Colon Cancer Family Registry Cohort

Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response.

Robert Carreras-Torres, Andre E Kim, Yi Lin, Virginia Díez-Obrero, Stephanie A Bien, Conghui Qu, Jun Wang, Niki Dimou, Elom K Aglago, Demetrius Albanes, Volker Arndt, James W Baurley, Sonja I Berndt, Stéphane Bézieau, D Timothy Bishop, Emmanouil Bouras, Hermann Brenner, Arif Budiarto, Peter T Campbell, Graham Casey

2023-03-06

BACKGROUND: Tobacco smoking is an established risk factor for colorectal cancer. However, genetically defined population subgroups..

Prognostic role of detailed colorectal location and tumor molecular features: analyses of 13,101 colorectal cancer patients including 2994 early-onset cases.

Tomotaka Ugai, Naohiko Akimoto, Koichiro Haruki, Tabitha A Harrison, Yin Cao, Conghui Qu, Andrew T Chan, Peter T Campbell, Sonja I Berndt, Daniel D Buchanan, Amanda J Cross, Brenda Diergaarde, Steven J Gallinger, Marc J Gunter, Sophia Harlid, Akihisa Hidaka, Michael Hoffmeister, Hermann Brenner, Jenny Chang-Claude, Li Hsu

2023-03-01

BACKGROUND: The pathogenic effect of colorectal tumor molecular features may be influenced by several factors, including those rel..

Body mass index and molecular subtypes of colorectal cancer.

Neil Murphy, Christina C Newton, Mingyang Song, Nikos Papadimitriou, Michael Hoffmeister, Amanda I Phipps, Tabitha A Harrison, Polly A Newcomb, Elom K Aglago, Sonja I Berndt, Hermann Brenner, Daniel D Buchanan, Yin Cao, Andrew T Chan, Xuechen Chen, Iona Cheng, Jenny Chang-Claude, Niki Dimou, David Drew, Alton B Farris

2023-02-08

BACKGROUND: Obesity is an established risk factor for colorectal cancer (CRC), but the evidence for the association is inconsisten..

DNA methylation profile in CpG-depleted regions uncovers a high-risk subtype of early-stage colorectal cancer.

Huichuan Yu, Xiaolin Wang, Liangliang Bai, Guannan Tang, Kelly T Carter, Ji Cui, Pinzhu Huang, Li Liang, Yanqing Ding, Muyan Cai, Meijin Huang, Huanliang Liu, Guangwen Cao, Steven Gallinger, Rish K Pai, Daniel D Buchanan, Aung Ko Win, Polly A Newcomb, Jianping Wang, William M Grady

2023-01-10

BACKGROUND: The current risk stratification system defined by clinicopathological features does not identify the risk of recurrenc..

Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.

Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Díez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-Ou Shu, Jirong Long, Qiuyin Cai

2023-01-01

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 1..

Quantitative Pathologic Analysis of Digitized Images of Colorectal Carcinoma Improves Prediction of Recurrence-Free Survival.

Reetesh K Pai, Imon Banerjee, Sameer Shivji, Suchit Jain, Douglas Hartman, Daniel D Buchanan, Mark A Jenkins, David F Schaeffer, Christophe Rosty, Julia Como, Amanda I Phipps, Polly A Newcomb, Andrea N Burnett-Hartman, Loic Le Marchand, Niloy J Samadder, Bhavik Patel, Carol Swallow, Noralane M Lindor, Steven J Gallinger, Robert C Grant

2022-12-01

BACKGROUND & AIMS: To examine whether quantitative pathologic analysis of digitized hematoxylin and eosin slides of colorectal car..

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study.

Emma Anthony, Jeanette C Reece, Elasma Milanzi, Jihoon E Joo, Sharelle Joseland, Mark Clendenning, Amanda Whelan, Susan Parry, Julie Arnold, Varnika Vijay, Nathan Atkinson, John L Hopper, Aung K Win, Mark A Jenkins, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Daniel D Buchanan, null Australasian Coloretal Cancer Family Registry, null Family Cancer Clinics of Australia

2022-11-26

OBJECTIVE: The unknown aetiology of Serrated Polyposis Syndrome (SPS) impedes risk prediction and prevention. We investigated risk..

Interactions between folate intake and genetic predictors of gene expression levels associated with colorectal cancer risk.

Cameron B Haas, Yu-Ru Su, Paneen Petersen, Xiaoliang Wang, Stephanie A Bien, Yi Lin, Demetrius Albanes, Stephanie J Weinstein, Mark A Jenkins, Jane C Figueiredo, Polly A Newcomb, Graham Casey, Loic Le Marchand, Peter T Campbell, Victor Moreno, John D Potter, Lori C Sakoda, Martha L Slattery, Andrew T Chan, Li Li

2022-11-07

Observational studies have shown higher folate consumption to be associated with lower risk of colorectal cancer (CRC). Understand..

A validation of models for prediction of pathogenic variants in mismatch repair genes.

Cathy Shyr, Amanda L Blackford, Theodore Huang, Jianfeng Ke, Nofal Ouardaoui, Lorenzo Trippa, Sapna Syngal, Chinedu Ukaegbu, Hajime Uno, Khedoudja Nafa, Zsofia K Stadler, Kenneth Offit, Christopher I Amos, Patrick M Lynch, Sining Chen, Francis M Giardiello, Daniel D Buchanan, John L Hopper, Mark A Jenkins, Melissa C Southey

2022-10-01

PURPOSE: Models used to predict the probability of an individual having a pathogenic homozygous or heterozygous variant in a misma..

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Pal Moller, Toni Seppala, James G Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship

2022-10-01

OBJECTIVE: To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC ..

Genome-Wide Interaction Analysis of Genetic Variants With Menopausal Hormone Therapy for Colorectal Cancer Risk.

Yu Tian, Andre E Kim, Stephanie A Bien, Yi Lin, Conghui Qu, Tabitha A Harrison, Robert Carreras-Torres, Virginia Díez-Obrero, Niki Dimou, David A Drew, Akihisa Hidaka, Jeroen R Huyghe, Kristina M Jordahl, John Morrison, Neil Murphy, Mireia Obón-Santacana, Cornelia M Ulrich, Jennifer Ose, Anita R Peoples, Edward A Ruiz-Narvaez

2022-08-08

BACKGROUND: The use of menopausal hormone therapy (MHT) may interact with genetic variants to influence colorectal cancer (CRC) ri..

Association between germline variants and somatic mutations in colorectal cancer.

Richard Barfield, Conghui Qu, Robert S Steinfelder, Chenjie Zeng, Tabitha A Harrison, Stefanie Brezina, Daniel D Buchanan, Peter T Campbell, Graham Casey, Steven Gallinger, Marios Giannakis, Stephen B Gruber, Andrea Gsur, Li Hsu, Jeroen R Huyghe, Victor Moreno, Polly A Newcomb, Shuji Ogino, Amanda I Phipps, Martha L Slattery

2022-06-17

Colorectal cancer (CRC) is a heterogeneous disease with evidence of distinct tumor types that develop through different somaticall..

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Peter Georgeson, Tabitha A Harrison, Bernard J Pope, Syed H Zaidi, Conghui Qu, Robert S Steinfelder, Yi Lin, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L Amitay, Sonja Berndt, Hermann Brenner, Peter T Campbell, Yin Cao, Andrew T Chan, Jenny Chang-Claude, Kimberly F Doheny, David A Drew

2022-06-06

Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorecta..

Large-scale Integrated Analysis of Genetics and Metabolomic Data Reveals Potential Links Between Lipids and Colorectal Cancer Risk.

Xiang Shu, Zhishan Chen, Jirong Long, Xingyi Guo, Yaohua Yang, Conghui Qu, Yoon-Ok Ahn, Qiuyin Cai, Graham Casey, Stephen B Gruber, Jeroen R Huyghe, Sun Ha Jee, Mark A Jenkins, Wei-Hua Jia, Keum Ji Jung, Yoichiro Kamatani, Dong-Hyun Kim, Jeongseon Kim, Sun-Seog Kweon, Loic Le Marchand

2022-06-01

BACKGROUND: The etiology of colorectal cancer is not fully understood. METHODS: Using genetic variants and metabolomics data inclu..

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Claire Palles, Hannah D West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E Grolleman, Erik AM Jansen, Helen Curley, Laura Chegwidden, Edward H Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg

2022-05-05

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline varian..

Beyond GWAS of Colorectal Cancer: Evidence of Interaction with Alcohol Consumption and Putative Causal Variant for the 10q24.2 Region

Kristina M Jordahl, Anna Shcherbina, Andre E Kim, Yu-Ru Su, Yi Lin, Jun Wang, Conghui Qu, Demetrius Albanes, Volker Arndt, James W Baurley, Sonja I Berndt, Stephanie A Bien, D Timothy Bishop, Emmanouil Bouras, Hermann Brenner, Daniel D Buchanan, Arif Budiarto, Peter T Campbell, Robert Carreras-Torres, Graham Casey

2022-05-01

BACKGROUND: Currently known associations between common genetic variants and colorectal cancer explain less than half of its herit..

Genetic Regulation of DNA Methylation Yields Novel Discoveries in GWAS of Colorectal Cancer

Richard Barfield, Jeroen R Huyghe, Mathieu Lemire, Xinyuan Dong, Yu-Ru Su, Stefanie Brezina, Daniel D Buchanan, Jane C Figueiredo, Steven Gallinger, Marios Giannakis, Andrea Gsur, Marc J Gunter, Heather Hampel, Tabitha A Harrison, John L Hopper, Thomas J Hudson, Christopher I Li, Victor Moreno, Polly A Newcomb, Rish K Pai

2022-05-01

BACKGROUND: Colorectal cancer has a strong epigenetic component that is accompanied by frequent DNA methylation (DNAm) alterations..

Diabetes mellitus in relation to colorectal tumor molecular subtypes: A pooled analysis of more than 9000 cases

Sophia Harlid, Bethany Van Guelpen, Conghui Qu, Bjorn Gylling, Elom K Aglago, Efrat L Amitay, Hermann Brenner, Daniel D Buchanan, Peter T Campbell, Yin Cao, Andrew T Chan, Jenny Chang-Claude, David A Drew, Jane C Figueiredo, Amy J French, Steven Gallinger, Marios Giannakis, Graham G Giles, Marc J Gunter, Michael Hoffmeister

2022-04-22

Diabetes is an established risk factor for colorectal cancer. However, colorectal cancer is a heterogeneous disease and it is not ..

Assessing the causal role of epigenetic clocks in the development of multiple cancers: a Mendelian randomization study.

Fernanda Morales Berstein, Daniel L McCartney, Ake T Lu, Konstantinos K Tsilidis, Emmanouil Bouras, Philip Haycock, Kimberley Burrows, Amanda I Phipps, Daniel D Buchanan, Iona Cheng, null PRACTICAL consortium, Richard M Martin, George Davey Smith, Caroline L Relton, Steve Horvath, Riccardo E Marioni, Tom G Richardson, Rebecca C Richmond

2022-03-29

BACKGROUND: Epigenetic clocks have been associated with cancer risk in several observational studies. Nevertheless, it is unclear ..

Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis

James Yarmolinsky, Virginia Diez-Obrero, Tom M Richardson, Marie E Pigeyre, Jennifer Y Sjaarda, Guillaume Pare, Venexia Walker, Emma Vincent, Vanessa Tan, Mireia Obon-Santacana, Demetrius K Albanes, Jochen Hampe, Andrea Gsur, Heather Hampel, Rish Pai, Mark I Jenkins, Steven Gallinger, Graham M Casey, Wei Zheng, Christopher Amos

2022-02-01

BACKGROUND: Epidemiological studies have reported conflicting findings on the potential adverse effects of long-term antihypertens..

Genetic variants associated with circulating C-reactive protein levels and colorectal cancer survival: Sex-specific and lifestyle factors specific associations

Yuhan Huang, Xinwei Hua, Julia D Labadie, Tabitha A Harrison, James Y Dai, Sara Lindstrom, Yi Lin, Sonja Berndt, Daniel D Buchanan, Peter T Campbell, Graham Casey, Steven J Gallinger, Marc J Gunter, Michael Hoffmeister, Mark A Jenkins, Lori C Sakoda, Robert E Schoen, Brenda Diergaarde, Martha L Slattery, Emily White

2022-01-13

Elevated blood levels of C-reactive protein (CRP) have been linked to colorectal cancer (CRC) survival. We evaluated genetic varia..

Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study

Alexi N Archambault, Jihyoun Jeon, Yi Lin, Minta Thomas, Tabitha A Harrison, D Timothy Bishop, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Jane C Figueiredo, Steven Gallinger, Stephen B Gruber, Marc J Gunter, Feng Guo, Michael Hoffmeister, Mark A Jenkins, Temitope O Keku, Loic Le Marchand, Li Li

2022-01-13

BACKGROUND: The incidence of colorectal cancer (CRC) among individuals aged younger than 50 years has been increasing. As screenin..

Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival

Julia D Labadie, Sevtap Savas, Tabitha A Harrison, Barb Banbury, Yuhan Huang, Daniel D Buchanan, Peter T Campbell, Steven J Gallinger, Graham G Giles, Marc J Gunter, Michael Hoffmeister, Li Hsu, Mark A Jenkins, Yi Lin, Shuji Ogino, Amanda Phipps, Martha L Slattery, Robert S Steinfelder, Wei Sun, Bethany Van Guelpen

2022-01-07

Identification of new genetic markers may improve the prediction of colorectal cancer prognosis. Our objective was to examine geno..

Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis

Ivan Borozan, Syed H Zaidi, Tabitha A Harrison, Amanda Phipps, Jiayin Zheng, Stephen Lee, Quang M Trinh, Robert S Steinfelder, Jeremy Adams, Barbara L Banbury, Sonja Berndt, Stefanie Brezina, Daniel D Buchanan, Susan Bullman, Yin Cao, Alton B Farris, Jane C Figueiredo, Marios Giannakis, Lawrence E Heisler, John L Hopper

2022-01-01

BACKGROUND: Fusobacterium nucleatum (F. nucleatum) activates oncogenic signaling pathways and induces inflammation to promote colo..

A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients.

Christopher Wills, Yazhou He, Matthew G Summers, Yi Lin, Amanda I Phipps, Katie Watts, Philip J Law, Nada A Al-Tassan, Timothy S Maughan, Richard Kaplan, Richard S Houlston, Ulrike Peters, Polly A Newcomb, Andrew T Chan, Daniel D Buchanan, Steve Gallinger, Loic L Marchand, Rish K Pai, Qian Shi, Steven R Alberts

2021-12-01

BACKGROUND: While genome-wide association studies (GWAS) have identified germline variants influencing the risk of developing colo..

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger

2021-11-01

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH un..

Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study

Aayah Nounu, Rebecca C Richmond, Isobel D Stewart, Praveen Surendran, Nicholas J Wareham, Adam Butterworth, Stephanie J Weinstein, Demetrius Albanes, John A Baron, John L Hopper, Jane C Figueiredo, Polly A Newcomb, Noralane M Lindor, Graham Casey, Elizabeth A Platz, Loic Le Marchand, Cornelia M Ulrich, Christopher I Li, Fraenzel JB van Dujinhoven, Andrea Gsur

2021-11-01

Salicylic acid (SA) has observationally been shown to decrease colorectal cancer (CRC) risk. Aspirin (acetylsalicylic acid, that r..

DNA methylation-based signature of CD8 tumor-infiltrating lymphocytes enables evaluation of immune response and prognosis in colorectal cancer

Qi Zou, Xiaolin Wang, Donglin Ren, Bang Hu, Guannan Tang, Yu Zhang, Meijin Huang, Rish K Pai, Daniel D Buchanan, Aung Ko Win, Polly A Newcomb, William M Grady, Huichuan Yu, Yanxin Luo

2021-09-01

BACKGROUND: Tumor-infiltrating lymphocytes (TILs), especially CD8+ TILs, can be used for predicting immunotherapy responsiveness a..

Genetically Predicted Circulating C-Reactive Protein Concentration and Colorectal Cancer Survival: A Mendelian Randomization Consortium Study

Xinwei Hua, James Y Dai, Sara Lindstrom, Tabitha A Harrison, Yi Lin, Steven R Alberts, Elizabeth Alwers, Sonja Berndt, Hermann Brenner, Daniel D Buchanan, Peter T Campbell, Graham Casey, Jenny Chang-Claude, Steven Gallinger, Graham G Giles, Richard M Goldberg, Marc J Gunter, Michael Hoffmeister, Mark A Jenkins, Amit D Joshi

2021-07-01

BACKGROUND: A positive association between circulating C-reactive protein (CRP) and colorectal cancer survival was reported in obs..

Genetic architectures of proximal and distal colorectal cancer are partly distinct

Jeroen R Huyghe, Tabitha A Harrison, Stephanie A Bien, Heather Hampel, Jane C Figueiredo, Stephanie L Schmit, David Conti, Sai Chen, Conghui Qu, Yi Lin, Richard Barfield, John A Baron, Amanda J Cross, Brenda Diergaarde, David Duggan, Sophia Harlid, Liher Imaz, Hyun Min Kang, David M Levine, Vittorio Perduca

2021-07-01

OBJECTIVE: An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision preventi..

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Mev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Finlay Macrae, Ingrid M Winship, Huw Thomas, Dafydd Gareth Evans, John Burn, Marc Greenblatt, Wouter H de Vos Tot Nederveen Cappel, Rolf H Sijmons, Maartje Nielsen, Lucio Bertario

2021-07-01

BACKGROUND: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mism..

Tetranucleotide and Low Microsatellite Instability Are Inversely Associated with the CpG Island Methylator Phenotype in Colorectal Cancer

Sabine Meessen, Nicola Currey, Zeenat Jahan, Hannah W Parker, Mark A Jenkins, Daniel D Buchanan, John L Hopper, Eva Segelov, Jane E Dahlstrom, Maija RJ Kohonen-Corish

2021-07-01

MSH3 gene or protein deficiency or loss-of-function in colorectal cancer can cause a DNA mismatch repair defect known as "elevated..

An integrated mass spectrometry imaging and digital pathology workflow for objective detection of colorectal tumours by unique atomic signatures

Bence Paul, Kai Kysenius, James B Hilton, Michael WM Jones, Robert W Hutchinson, Daniel D Buchanan, Christophe Rosty, Fred Fryer, Ashley Bush, Janet M Hergt, Jon D Woodhead, David P Bishop, Philip A Doble, Michelle M Hill, Peter J Crouch, Dominic J Hare

2021-06-29

Tumours are abnormal growths of cells that reproduce by redirecting essential nutrients and resources from surrounding tissue. Cha..

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Mark A Jenkins

2021-06-28

BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome..

Association Between Smoking and Molecular Subtypes of Colorectal Cancer

Xiaoliang Wang, Efrat Amitay, Tabitha A Harrison, Barbara L Banbury, Sonja Berndt, Hermann Brenner, Daniel D Buchanan, Peter T Campbell, Yin Cao, Andrew T Chan, Jenny Chang-Claude, Steven J Gallinger, Marios Giannakis, Graham G Giles, Marc J Gunter, John L Hopper, Mark A Jenkins, Yi Lin, Victor Moreno, Reiko Nishihara

2021-06-14

BACKGROUND: Smoking is associated with colorectal cancer (CRC) risk. Previous studies suggested this association may be restricted..

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer

Jihoon E Joo, Mark Clendenning, Ee Ming Wong, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Ingrid M Winship, Susan G Preston, Aung Ko Win, Pierre-Antoine Dugue, Harindra Jayasekara, Dallas English, Finlay A Macrae, John L Hopper, Mark A Jenkins, Roger L Milne, Graham G Giles, Melissa C Southey, Daniel D Buchanan

2021-06-01

We investigated aberrant DNA methylation (DNAm) changes and the contribution of ageing-associated methylomic drift and age acceler..

Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.

Konstantinos K Tsilidis, Nikos Papadimitriou, Niki Dimou, Dipender Gill, Sarah J Lewis, Richard M Martin, Neil Murphy, Georgios Markozannes, Verena Zuber, Amanda J Cross, Kimberley Burrows, David S Lopez, Timothy J Key, Ruth C Travis, Aurora Perez-Cornago, David J Hunter, Fränzel JB van Duijnhoven, Demetrius Albanes, Volker Arndt, Sonja I Berndt

2021-06-01

BACKGROUND: The literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer i..

Nongenetic Determinants of Risk for Early-Onset Colorectal Cancer

Alexi N Archambault, Yi Lin, Jihyoun Jeon, Tabitha A Harrison, D Timothy Bishop, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Jane C Figueiredo, Steven Gallinger, Stephen B Gruber, Marc J Gunter, Michael Hoffmeister, Mark A Jenkins, Temitope O Keku, Loic Le Marchand, Li Li, Victor Moreno, Polly A Newcomb

2021-05-20

BACKGROUND: Incidence of early-onset (younger than 50 years of age) colorectal cancer (CRC) is increasing in many countries. Thus,..

Causal Effects of Lifetime Smoking on Breast and Colorectal Cancer Risk: Mendelian Randomization Study

Niki Dimou, James Yarmolinsky, Emmanouil Bouras, Konstantinos K Tsilidis, Richard M Martin, Sarah J Lewis, Inger T Gram, Marije F Bakker, Hermann Brenner, Jane C Figueiredo, Renee T Fortner, Stephen B Gruber, Bethany van Guelpen, Li Hsu, Rudolf Kaaks, Sun-Seog Kweon, Yi Lin, Noralane M Lindor, Polly A Newcomb, Maria-Jose Sanchez

2021-05-01

BACKGROUND: Observational evidence has shown that smoking is a risk factor for breast and colorectal cancer. We used Mendelian ran..

Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer

Marco Matejcic, Hiba A Shaban, Melanie W Quintana, Fredrick R Schumacher, Christopher K Edlund, Leah Naghi, Rish K Pai, Robert W Haile, A Joan Levine, Daniel D Buchanan, Mark A Jenkins, Jane C Figueiredo, Gad Rennert, Stephen B Gruber, Li Li, Graham Casey, David Conti, Stephanie L Schmit

2021-05-01

BACKGROUND: Inherited susceptibility is an important contributor to colorectal cancer risk, and rare variants in key genes or path..

Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Toni T Seppala, Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Eivind Hovig, Maartje Nielsen, Rolf H Sijmons, Lucio Bertario, Bernardo Bonanni, Maria G Tibiletti, Giulia M Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann

2021-03-17

PURPOSE: This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecologi..

Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Xingyi Guo, Weiqiang Lin, Wanqing Wen, Jeroen Huyghe, Stephanie Bien, Qiuyin Cai, Tabitha Harrison, Zhishan Chen, Conghui Qu, Jiandong Bao, Jirong Long, Yuan Yuan, Fangqin Wang, Mengqiu Bai, Goncalo R Abecasis, Demetrius Albanes, Sonja Berndt, Stephane Bezieau, D Timothy Bishop, Hermann Brenner

2021-03-09

BACKGROUND AND AIMS: Susceptibility genes and the underlying mechanisms for the majority of risk loci identified by genome-wide as..

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer

Mark A Jenkins, Daniel D Buchanan, John Lai, Enes Makalic, Gillian S Dite, Aung K Win, Mark Clendenning, Ingrid M Winship, Richard B Hayes, Jeroen R Huyghe, Ulrike Peters, Steven Gallinger, Loic Le Marchand, Jane C Figueiredo, Rish K Pai, Polly A Newcomb, James M Church, Graham Casey, John L Hopper

2021-03-08

It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for peopl..

A Combined Proteomics and Mendelian Randomization Approach to Investigate the Effects of Aspirin-Targeted Proteins on Colorectal Cancer

Aayah Nounu, Alexander Greenhough, Kate J Heesom, Rebecca C Richmond, Jie Zheng, Stephanie J Weinstein, Demetrius Albanes, John A Baron, John L Hopper, Jane C Figueiredo, Polly A Newcomb, Noralane M Lindor, Graham Casey, Elizabeth A Platz, Loic Le Marchand, Cornelia M Ulrich, Christopher Li, Franzel JB van Duijnhoven, Andrea Gsur, Peter T Campbell

2021-03-01

BACKGROUND: Evidence for aspirin's chemopreventative properties on colorectal cancer (CRC) is substantial, but its mechanism of ac..

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Bernard J Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda B Spurdle, Finlay A Macrae, Aung K Win, John L Hopper, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

2021-02-18

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

Leila Dorling, Sara Carvalho, Jamie Allen, Anna Gonzalez-Neira, Craig Luccarini, Cecilia Wahlstrom, Karen A Pooley, Michael T Parsons, Cristina Fortuno, Qin Wang, Manjeet K Bolla, Joe Dennis, Renske Keeman, M Rosario Alonso, Nuria Alvarez, Belen Herraez, Victoria Fernandez, Rocio Nunez-Torres, Ana Osorio, Jeanette Valcich

2021-02-04

BACKGROUND: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with b..

Associations of Height With the Risks of Colorectal and Endometrial Cancer in Persons With Lynch Syndrome

Jesca GM Brouwer, Polly A Newcomb, Tanya M Bisseling, Jane C Figueiredo, John L Hopper, Mark A Jenkins, Jan J Koornstra, Noralane M Lindor, Hans FA Vasen, Aung K Win, Ellen Kampman, Franzel JB van Duijnhoven

2021-02-01

Persons with Lynch syndrome (LS - carrying a pathogenic mutation in a DNA mismatch repair gene) have an increased colorectal cance..

Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis

Richard Culliford, Alex J Cornish, Philip J Law, Susan M Farrington, Kimmo Palin, Mark A Jenkins, Graham Casey, Michael Hoffmeister, Hermann Brenner, Jenny Chang-Claude, Iva Kirac, Tim Maughan, Stefanie Brezina, Andrea Gsur, Jeremy P Cheadle, Lauri A Aaltonen, Malcom G Dunlop, Richard S Houlston

2021-01-07

BACKGROUND: Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of..

Association of Body Mass Index With Colorectal Cancer Risk by Genome-Wide Variants

Peter T Campbell, Yi Lin, Stephanie A Bien, Jane C Figueiredo, Tabitha A Harrison, Mark A Guinter, Sonja Berndt, Hermann Brenner, Andrew T Chan, Jenny Chang-Claude, Steven J Gallinger, Susan M Gapstur, Graham G Giles, Edward Giovannucci, Stephen B Gruber, Marc Gunter, Michael Hoffmeister, Eric J Jacobs, Mark A Jenkins, Loic Le Marchand

2021-01-01

BACKGROUND: Body mass index (BMI) is a complex phenotype that may interact with genetic variants to influence colorectal cancer ri..

Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

Caroline J Bull, Joshua A Bell, Neil Murphy, Eleanor Sanderson, George Davey Smith, Nicholas J Timpson, Barbara L Banbury, Demetrius Albanes, Sonja I Berndt, Stephane Bezieau, D Timothy Bishop, Hermann Brenner, Daniel D Buchanan, Andrea Burnett-Hartman, Graham Casey, Sergi Castellvi-Bel, Andrew T Chan, Jenny Chang-Claude, Amanda J Cross, Albert de la Chapelle

2020-12-17

BACKGROUND: Higher adiposity increases the risk of colorectal cancer (CRC), but whether this relationship varies by anatomical sub..

Genetic Variants in the Regulatory T cell-Related Pathway and Colorectal Cancer Prognosis

Sonja Neumeyer, Xinwei Hua, Petra Seibold, Lina Jansen, Axel Benner, Barbara Burwinkel, Niels Halama, Sonja I Berndt, Amanda I Phipps, Lori C Sakoda, Robert E Schoen, Martha L Slattery, Andrew T Chan, Manish Gala, Amit D Joshi, Shuji Ogino, Mingyang Song, Esther Herpel, Hendrik Blaker, Matthias Kloor

2020-12-01

BACKGROUND: High numbers of lymphocytes in tumor tissue, including T regulatory cells (Treg), have been associated with better col..

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Fadwa A Elsayed, Judith E Grolleman, Abiramy Ragunathan, Daniel D Buchanan, Tom van Wezel, Richarda M de Voer

2020-12-01

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Sigve Nakken, Eivind Hovig, Maartje Nielsen, Rolf H Sijmons, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann

2020-12-01

PURPOSE: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incid..

Circulating adipokine concentrations and risk of five obesity-related cancers: A Mendelian randomization study

Niki L Dimou, Nikos Papadimitriou, Daniela Mariosa, Mattias Johansson, Paul Brennan, Ulrike Peters, Stephen J Chanock, Mark Purdue, D Timothy Bishop, Manuela Gago-Dominquez, Graham G Giles, Victor Moreno, Elizabeth A Platz, Catherine M Tangen, Alicja Wolk, Wei Zheng, Xifeng Wu, Peter T Campbell, Edward Giovannucci, Yi Lin

2020-10-26

Obesity is considered a chronic inflammatory state characterized by continued secretion of adipokines and cytokines. Experimental ..

Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis

Gail P Jarvik, Xiaoliang Wang, Pierre Fontanillas, Esther Kim, Sirisak Chanprasert, Adam S Gordon, Lisa Bastarache, Kris V Kowdley, Tabitha Harrison, Elisabeth A Rosenthal, Ian B Stanaway, Stéphane Bézieau, Stephanie J Weinstein, Polly A Newcomb, Graham Casey, Elizabeth A Platz, Kala Visvanathan, Loic Le Marchand, Cornelia M Ulrich, Sheetal Hardikar

2020-10-22

Homozygotes for the higher penetrance hemochromatosis risk allele, HFE c.845G>A (p.Cys282Tyr, or C282Y), have been reported to be ..

Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies

Akihisa Hidaka, Tabitha A Harrison, Yin Cao, Lori C Sakoda, Richard Barfield, Marios Giannakis, Mingyang Song, Amanda Phipps, Jane C Figueiredo, Syed H Zaidi, Amanda E Toland, Efrat L Amitay, Sonja Berndt, Ivan Borozan, Andrew T Chan, Steven Gallinger, Marc J Gunter, Mark A Guinter, Sophia Harlid, Heather Hampel

2020-10-15

Protective associations of fruits, vegetables, and fiber intake with colorectal cancer risk have been shown in many, but not all e..

Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location

Julia D Labadie, Tabitha A Harrison, Barbara Banbury, Efrat L Amtay, Sonja Bernd, Hermann Brenner, Daniel D Buchanan, Peter T Campbell, Yin Cao, Andrew T Chan, Jenny Chang-Claude, Dallas English, Jane C Figueiredo, Steven J Gallinger, Graham G Giles, Marc J Gunter, Michael Hoffmeister, Li Hsu, Mark A Jenkins, Yi Lin

2020-10-01

BACKGROUND: Postmenopausal hormone therapy (HT) is associated with a decreased colorectal cancer (CRC) risk. As CRC is a heterogen..

The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program

Sibel Saya, Jon D Emery, James G Dowty, Jennifer G McIntosh, Ingrid M Winship, Mark A Jenkins

2020-10-01

Background In many countries, population colorectal cancer (CRC) screening is based on age and family history, though more precise..

Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

Nazlisadat Seyed Khoei, Mazda Jenab, Neil Murphy, Barbara L Banbury, Robert Carreras-Torres, Vivian Viallon, Tilman Kuehn, Bas Bueno-de-Mesquita, Krasimira Aleksandrova, Amanda J Cross, Elisabete Weiderpass, Magdalena Stepien, Andrew Bulmer, Anne Tjonneland, Marie-Christine Boutron-Ruault, Gianluca Severi, Franck Carbonnel, Verena Katzke, Heiner Boeing, Manuela M Bergmann

2020-09-03

BACKGROUND: Bilirubin, a byproduct of hemoglobin breakdown and purported anti-oxidant, is thought to be cancer preventive. We cond..

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

Minta Thomas, Lori C Sakoda, Michael Hoffmeister, Elisabeth A Rosenthal, Jeffrey K Lee, Franzel JB van Duijnhoven, Elizabeth A Platz, Anna H Wu, Christopher H Dampier, Albert de la Chapelle, Alicja Wolk, Amit D Joshi, Andrea Burnett-Hartman, Andrea Gsur, Annika Lindblom, Antoni Castells, Aung Ko Win, Bahram Namjou, Bethany Van Guelpen, Catherine M Tangen

2020-09-03

Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals at low and high risk of developin..

Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk

Xiaoliang Wang, Yu-Ru Su, Paneen S Petersen, Stephanie Bien, Stephanie L Schmit, David A Drew, Demetrius Albanes, Sonja Berndt, Hermann Brenner, Peter T Campbell, Graham Casey, Jenny Cheng-Claude, Steven Gallinger, Stephen B Gruber, Robert W Haile, Tabitha A Harrison, Michael Hoffmeister, Eric J Jacobs, Mark A Jenkins, Amit D Joshi

2020-09-01

BACKGROUND: Regular use of nonsteroidal anti-inflammatory drugs (NSAID) is associated with lower risk of colorectal cancer. Genome..

A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study

Xinyuan Dong, Yu-Ru Su, Richard Barfield, Stephanie A Bien, Qianchuan He, Tabitha A Harrison, Jeroen R Huyghe, Temitope O Keku, Noralane M Lindor, Clemens Schafmayer, Andrew T Chan, Stephen B Gruber, Mark A Jenkins, Charles Kooperberg, Ulrike Peters, Li Hsu

2020-08-01

Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various ..

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer

Zahra Montazeri, Xue Li, Christine Nyiraneza, Xiangyu Ma, Maria Timofeeva, Victoria Svinti, Xiangrui Meng, Yazhou He, Yacong Bo, Samuel Morgan, Sergi Castellvi-Bel, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Angel Carracedo, Antoni Castells, Timothy Bishop, Daniel Buchanan, Mark A Jenkins, Temitope O Keku, Annika Lindblom

2020-08-01

OBJECTIVE: To provide an understanding of the role of common genetic variations in colorectal cancer (CRC) risk, we report an upda..

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

Syed H Zaidi, Tabitha A Harrison, Amanda Phipps, Robert Steinfelder, Quang M Trinh, Conghui Qu, Barbara L Banbury, Peter Georgeson, Catherine S Grasso, Marios Giannakis, Jeremy B Adams, Elizabeth Alwers, Efrat L Amitay, Richard T Barfield, Sonja Berndt, Ivan Borozan, Hermann Brenner, Stefanie Brezina, Daniel D Buchanan, Yin Cao

2020-07-20

Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted seque..

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Yan Dora Zhang, Amber N Hurson, Haoyu Zhang, Parichoy Pal Choudhury, Douglas F Easton, Roger L Milne, Jacques Simard, Per Hall, Kyriaki Michailidou, Joe Dennis, Marjanka K Schmidt, Jenny Chang-Claude, Puya Gharahkhani, David Whiteman, Peter T Campbell, Michael Hoffmeister, Mark Jenkins, Ulrike Peters, Li Hsu, Stephen B Gruber

2020-07-03

Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the i..

Association Between Molecular Subtypes of Colorectal Tumors and Patient Survival, Based on Pooled Analysis of 7 International Studies

Amanda Phipps, Elizabeth Alwers, Tabitha Harrison, Barbara Banbury, Hermann Brenner, Peter T Campbell, Jenny Chang-Claude, Daniel Buchanan, Andrew T Chan, Alton B Farris, Jane C Figueiredo, Steven Gallinger, Graham G Giles, Mark Jenkins, Roger L Milne, Polly A Newcomb, Martha L Slattery, Mingyang Song, Shuji Ogino, Syed H Zaidi

2020-06-01

BACKGROUND AND AIMS: The heterogeneity among colorectal tumors is probably due to differences in developmental pathways and might ..

Potential impact of family history-based screening guidelines on the detection of early-onset colorectal cancer

Samir Gupta, Balambal Bharti, Dennis J Ahnen, Daniel D Buchanan, Iona C Cheng, Michelle Cotterchio, Jane C Figueiredo, Steven J Gallinger, Robert W Haile, Mark A Jenkins, Noralane M Lindor, Finlay A Macrae, Loic Le Marchand, Polly A Newcomb, Stephen N Thibodeau, Aung Ko Win, Maria Elena Martinez

2020-04-20

BACKGROUND: Initiating screening at an earlier age based on cancer family history is one of the primary recommended strategies for..

Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses

Neil Murphy, Robert Carreras-Torres, Mingyang Song, Andrew T Chan, Richard M Martin, Nikos Papadimitriou, Niki Dimou, Konstantinos K Tsilidis, Barbara Banbury, Kathryn E Bradbury, Jelena Besevic, Sabina Rinaldi, Elio Riboli, Amanda J Cross, Ruth C Travis, Claudia Agnoli, Demetrius Albanes, Sonja I Berndt, Stephane Bezieau, D Timothy Bishop

2020-04-01

BACKGROUND & AIMS: Human studies examining associations between circulating levels of insulin-like growth factor 1 (IGF1) and insu..

Cumulative Burden of Colorectal Cancer Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

Alexi N Archambault, Yu-Ru Su, Jihyoun Jeon, Minta Thomas, Yi Lin, David V Conti, Aung Ko Win, Lori C Sakoda, Iris Lansdorp-Vogelaar, Elisabeth FP Peterse, Ann G Zauber, David Duggan, Andreana N Holowatyj, Jeroen R Huyghe, Hermann Brenner, Michelle Cotterchio, Stephane Bezieau, Stephanie L Schmit, Christopher K Edlund, Melissa C Southey

2020-04-01

BACKGROUND & AIMS: Early-onset colorectal cancer (CRC, in persons younger than 50 years old) is increasing in incidence; yet, in t..

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

Nikhil K Khankari, Barbara L Banbury, Maria C Borges, Philip Haycock, Demetrius Albanes, Volker Arndt, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Peter T Campbell, Graham Casey, Andrew T Chan, Jenny Chang-Claude, David V Conti, Michelle Cotterchio, Dallas R English, Jane C Figueiredo, Graham G Giles, Edward L Giovannucci, Marc J Gunter

2020-04-01

BACKGROUND: Results from epidemiologic studies examining polyunsaturated fatty acids (PUFA) and colorectal cancer risk are inconsi..

Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk

Zhiyu Xia, Yu-Ru Su, Paneen Petersen, Lihong Qi, Andre E Kim, Jane C Figueiredo, Yi Lin, Hongmei Nan, Lori C Sakoda, Demetrius Albanes, Sonja I Berndt, Stephane Bezieau, Stephanie Bien, Daniel D Buchanan, Graham Casey, Andrew T Chan, David V Conti, David A Drew, Steven J Gallinger, W James Gauderman

2020-03-24

BACKGROUND: Body mass index (BMI) and diabetes are established risk factors for colorectal cancer (CRC), likely through perturbati..

Genetic Predictors of Circulating 25-Hydroxyvitamin D and Prognosis after Colorectal Cancer.

Sonja Neumeyer, Katja Butterbach, Barbara L Banbury, Sonja I Berndt, Peter T Campbell, Rowan T Chlebowski, Andrew T Chan, Edward L Giovannucci, Amit D Joshi, Shuji Ogino, Mingyang Song, Marjorie L McCullough, Haifa Maalmi, JoAnn E Manson, Lori C Sakoda, Robert E Schoen, Martha L Slattery, Emily White, Aung K Win, Jane C Figueiredo

2020-03-18

Background: Low serum 25-hydroxyvitamin D [25(OH)D] concentrations in patients with colorectal cancer have been consistently assoc..

A New Comprehensive Colorectal Cancer Risk Prediction Model Incorporating Family History, Personal Characteristics, and Environmental Factors

Yingye Zheng, Xinwei Hua, Aung K Win, Robert J MacInnis, Steven Gallinger, Loic Le Marchand, Noralane M Lindor, John A Baron, John L Hopper, James G Dowty, Antonis C Antoniou, Jiayin Zheng, Mark A Jenkins, Polly A Newcomb

2020-03-01

PURPOSE: Reducing colorectal cancer incidence and mortality through early detection would improve efficacy if targeted. We develop..

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

Shimelis Dejene Gemechu, Christine M van Vliet, Aung Ko Win, Jane C Figueiredo, Loic Le Marchand, Steven Gallinger, Polly A Newcomb, John L Hopper, Noralane M Lindor, Mark A Jenkins, James G Dowty

2020-02-27

Individuals who carry pathogenic mutations in DNA mismatch repair (MMR) genes have high risks of cancer, and small studies have su..

Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

Nikos Papadimitriou, Niki Dimou, Konstantinos K Tsilidis, Barbara Banbury, Richard M Martin, Sarah J Lewis, Nabila Kazmi, Timothy M Robinson, Demetrius Albanes, Krasimira Aleksandrova, Sonja I Berndt, D Timothy Bishop, Hermann Brenner, Daniel D Buchanan, Bas Bueno-de-Mesquita, Peter T Campbell, Sergi Castellvi-Bel, Andrew T Chan, Jenny Chang-Claude, Merete Ellingjord-Dale

2020-01-30

Physical activity has been associated with lower risks of breast and colorectal cancer in epidemiological studies; however, it is ..

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Bryony A Thompson, Rhiannon Walters, Michael T Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M Lindor, Sean V Tavtigian, Niels de Wind, Amanda B Spurdle, null InSiGHT Variant Interpretation Committee

2020-01-27

Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, inclu..

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

Barbara Pardini, Alda Corrado, Elisa Paolicchi, Giovanni Cugliari, Sonja Berndt, Stephane Bezieau, Stephanie A Bien, Hermann Brenner, Bette J Caan, Peter T Campbell, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Michelle Cotterchio, Manish Gala, Steven J Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister

2020-01-15

Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cance..

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppala, Sanne W ten Broeke, John-Paul Plazzer, Sigve Nakken, Christoph Engel, Stefan Aretz, Mark A Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Huw Thomas, D Gareth Evans, John Burn, Marc Greenblatt, Eivind Hovig, Wouter H de Vos Tot Nederveen Cappel, Rolf H Sijmons

2020-01-01

PURPOSE: Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely kno..

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

Alex J Cornish, Philip J Law, Maria Timofeeva, Kimmo Palin, Susan M Farrington, Claire Palles, Mark A Jenkins, Graham Casey, Hermann Brenner, Jenny Chang-Claude, Michael Hoffmeister, Iva Kirac, Tim Maughan, Stefanie Brezina, Andrea Gsur, Jeremy P Cheadle, Lauri A Aaltonen, Ian Tomlinson, Malcolm G Dunlop, Richard S Houlston

2020-01-01

BACKGROUND: Epidemiological studies have linked lifestyle, cardiometabolic, reproductive, developmental, and inflammatory factors ..

Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

S Ghazaleh Dashti, Wing Yan Li, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Finlay A Macrae, Graham G Giles, Sheetal Hardikar, Xinwei Hua, Stephen N Thibodeau, Jane C Figueiredo, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, John D Potter, Noralane M Lindor, John L Hopper

2019-11-12

BACKGROUND: Type 2 diabetes mellitus and high total cholesterol and triglycerides are known to be associated with increased colore..

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

Mark A Jenkins, Aung K Win, James G Dowty, Robert J MacInnis, Enes Makalic, Daniel F Schmidt, Gillian S Dite, Mirosl Kapuscinski, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Jon D Emery, Sibel Saya, Finlay A Macrae, Dennis J Ahnen, David Duggan, Jane C Figueiredo, Noralane M Lindor, Robert W Haile, John D Potter

2019-10-01

Before SNP-based risk can be incorporated in colorectal cancer (CRC) screening, the ability of these SNPs to estimate CRC risk for..

Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families

Yun-Hee Choi, Lajmi Lakhal-Chaieb, Agnieszka Krol, Bing Yu, Daniel Buchanan, Dennis Ahnen, Loic Le Marchand, Polly A Newcomb, Aung Ko Win, Mark Jenkins, Noralane M Lindor, Laurent Briollais

2019-07-01

BACKGROUND: The risk of cancers is well characterized in Lynch syndrome (LS) families but has been less studied in familial colore..

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Peter Georgeson, Michael D Walsh, Mark Clendenning, Simin Daneshvar, Bernard J Pope, Khalid Mahmood, Jihoon E Joo, Harindra Jayasekara, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

2019-07-01

BACKGROUND: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismat..

Global trends in colorectal cancer mortality: projections to the year 2035

Marzieh Araghi, Isabelle Soerjomataram, Mark Jenkins, James Brierley, Eva Morris, Freddie Bray, Melina Arnold

2019-06-15

Colorectal cancer (CRC) is the third most common cancer worldwide and the fourth most common cause of cancer death. Predictions of..

Mendelian randomization analysis of C-reactive protein on colorectal cancer risk

Xiaoliang Wang, James Y Dai, Demetrius Albanes, Volker Arndt, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Daniel D Buchanan, Katja Butterbach, Bette Caan, Graham Casey, Peter T Campbell, Andrew T Chan, Zhengyi Chen, Jenny Chang-Claude, Michelle Cotterchio, Douglas F Easton, Graham G Giles, Edward Giovannucci, William M Grady

2019-06-01

BACKGROUND: Chronic inflammation is a risk factor for colorectal cancer (CRC). Circulating C-reactive protein (CRP) is also modera..

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Philip J Law, Maria Timofeeva, Ceres Fernandez-Rozadilla, Aria Timofeeva, Peter Broderick, James Studd, Juan Fernandez-Tajes, Susan Farrington, Victoria Svinti, Claire Palles, Giulia Orlando, Amit Sud, Amy Holroyd, Steven Penegar, Evropi Theodoratou, Peter Vaughan-Shaw, Harry Campbell, Lina Zgaga, Caroline Hayward, Archie Campbell

2019-05-14

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome..

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Stephanie A Bien, Yu-Ru Su, David V Conti, Tabitha A Harrison, Conghui Qu, Xingyi Guo, Yingchang Lu, Demetrius Albanes, Paul L Auer, Barbara L Banbury, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Daniel D Buchanan, Bette J Caan, Peter T Campbell, Christopher S Carlson, Andrew T Chan, Jenny Chang-Claude, Sai Chen

2019-04-01

Genome-wide association studies have reported 56 independently associated colorectal cancer (CRC) risk variants, most of which are..

Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer

Yingchang Lu, Sun-Seog Kweon, Chizu Tanikawa, Wei-Hua Jia, Yong-Bing Xiang, Qiuyin Cai, Chenjie Zeng, Stephanie L Schmit, Aesun Shin, Keitaro Matsuo, Sun Ha Jee, Dong-Hyun Kim, Jeongseon Kim, Wanqing Wen, Jiajun Shi, Xingyi Guo, Bingshan Li, Nan Wang, Ben Zhang, Xinxiang Li

2019-04-01

BACKGROUND & AIMS: Genome-wide association studies (GWASs) have associated approximately 50 loci with risk of colorectal cancer (C..

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

Stephanie L Schmit, Christopher K Edlund, Fredrick R Schumacher, Jian Gong, Tabitha A Harrison, Jeroen R Huyghe, Chenxu Qu, Marilena Melas, David J Van den Berg, Hansong Wang, Stephanie Tring, Sarah J Plummer, Demetrius Albanes, M Henar Alonso, Christopher I Amos, Kristen Anton, Aaron K Aragaki, Volker Arndt, Elizabeth L Barry, Sonja I Berndt

2019-02-01

BACKGROUND: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorec..

Shared heritability and functional enrichment across six solid cancers

Xia Jiang, Hilary K Finucane, Fredrick R Schumacher, Stephanie L Schmit, Jonathan P Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B Kuchenbaecker, Joe Dennis, David V Conti, Graham Casey, Mia M Gaudet, Jeroen R Huyghe, Demetrius Albanes, Melinda C Aldrich, Angeline S Andrew, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou

2019-01-25

Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Us..

Discovery of common and rare genetic risk variants for colorectal cancer

Jeroen R Huyghe, Stephanie A Bien, Tabitha A Harrison, Hyun Min Kang, Sai Chen, Stephanie L Schmit, David V Conti, Conghui Qu, Jihyoun Jeon, Christopher K Edlund, Peyton Greenside, Michael Wainberg, Fredrick R Schumacher, Joshua D Smith, David M Levine, Sarah C Nelson, Nasa A Sinnott-Armstrong, Demetrius Albanes, M Henar Alonso, Kristin Anderson

2019-01-01

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 72..

Diagnostics for Pleiotropy in Mendelian Randomization Studies: Global and Individual Tests for Direct Effects

James Y Dai, Ulrike Peters, Xiaoyu Wang, Jonathan Kocarnik, Jenny Chang-Claude, Martha L Slattery, Andrew Chan, Mathieu Lemire, Sonja I Berndt, Graham Casey, Mingyang Song, Mark A Jenkins, Hermann Brenner, Aaron P Thrift, Emily White, Li Hsu

2018-12-01

Diagnosing pleiotropy is critical for assessing the validity of Mendelian randomization (MR) analyses. The popular MR-Egger method..

Physical activity and the risk of colorectal cancer in Lynch syndrome

S Ghazaleh Dashti, Aung Ko Win, Sheetal S Hardikar, Stephen E Glombicki, Sheila Mallenahalli, Selvi Thirumurthi, Susan K Peterson, Y Nancy You, Daniel D Buchanan, Jane C Figueiredo, Peter T Campbell, Steven Gallinger, Polly A Newcomb, John D Potter, Noralane M Lindor, Loic Le Marchand, Robert W Haile, John L Hopper, Mark A Jenkins, Karen M Basen-Engquist

2018-11-01

Greater physical activity is associated with a decrease in risk of colorectal cancer for the general population; however, little i..

Cancer Risks for PMS2-Associated Lynch Syndrome

Sanne W ten Broeke, Heleen M van der Klift, Carli MJ Tops, Stefan Aretz, Inge Bernstein, Daniel D Buchanan, Albert de la Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, Steven Gallinger, Encarna Gomez Garcia, Jane C Figueiredo, Robert Haile, Heather L Hampel, John L Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand, Tom GW Letteboer

2018-10-10

PURPOSE: Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associat..

Costs and outcomes of Lynch syndrome screening in the Australian colorectal cancer population

Dayna R Cenin, Steffie K Naber, Iris Lansdorp-Vogelaar, Mark A Jenkins, Daniel D Buchanan, David B Preen, Hooi C Ee, Peter O'Leary

2018-10-01

Background and Aim Individuals with Lynch syndrome (LS) are at increased risk of LS-related cancers including colorectal cancer (C..

Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline

Anaita Kanga-Parabia, Clara Gaff, Louisa Flander, Mark Jenkins, Louise A Keogh

2018-10-01

Unaffected relatives of individuals with Lynch syndrome can be offered predictive genetic testing to guide surveillance recommenda..

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome

Rish K Pai, Beth Dudley, Eve Karloski, Randall E Brand, Neil O'Callaghan, Christophe Rosty, Daniel D Buchanan, Mark A Jenkins, Stephen N Thibodeau, Amy J French, Noralane M Lindor, Reetesh K Pai

2018-10-01

Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome i..

Family history-based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios

Mary Dillon, Louisa Flander, Daniel D Buchanan, Finlay A Macrae, Jon D Emery, Ingrid M Winship, Alex Boussioutas, Graham G Giles, John L Hopper, Mark A Jenkins, Driss Ait Ouakrim

2018-08-01

BACKGROUND: The Australian National Bowel Cancer Screening Programme (NBCSP) was introduced in 2006. When fully implemented, the p..

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win

2018-08-01

BACKGROUND: Germ-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet u..

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Sonja Neumeyer, Barbara L Banbury, Volker Arndt, Sonja I Berndt, Stephane Bezieau, Stephanie A Bien, Dan D Buchanan, Katja Butterbach, Bette J Caan, Peter T Campbell, Graham Casey, Andrew T Chan, Stephen J Chanock, James Y Dai, Steven Gallinger, Edward L Giovannucci, Graham G Giles, William M Grady, Jochen Hampe, Michael Hoffmeister

2018-06-01

BACKGROUND: Substantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer..

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics

Yu-Ru Su, Chongzhi Di, Stephanie Bien, Licai Huang, Xinyuan Dong, Goncalo Abecasis, Sonja Berndt, Stephane Bezieau, Hermann Brenner, Bette Caan, Graham Casey, Jenny Chang-Claude, Stephen Chanock, Sai Chen, Charles Connolly, Keith Curtis, Jane Figueiredo, Manish Gala, Steven Gallinger, Tabitha Harrison

2018-05-03

Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants for many complex diseases; howe..

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

Tomas Tanskanen, Linda van den Berg, Niko Valimaki, Mervi Aavikko, Eivind Ness-Jensen, Kristian Hveem, Yvonne Wettergren, Elinor Bexe Lindskog, Neeme Tonisson, Andres Metspalu, Kaisa Silander, Giulia Orlando, Philip J Law, Sari Tuupanen, Alexandra E Gylfe, Ulrika A Hanninen, Tatiana Cajuso, Johanna Kondelin, Antti-Pekka Sarin, Eero Pukkala

2018-02-01

Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remain..

RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers

Lochlan J Fennell, Mark Clendenning, Diane M McKeone, Saara H Jamieson, Samanthy Balachandran, Jennifer Borowsky, John Liu, Futoshi Kawamata, Catherine E Bond, Christophe Rosty, Matthew E Burge, Daniel D Buchanan, Barbara A Leggett, Vicki LJ Whitehall

2018-01-01

The WNT signaling pathway is commonly altered during colorectal cancer development. The E3 ubiquitin ligase, RNF43, negatively reg..

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

Mark Clendenning, Alvin Huang, Harindra Jayasekara, Marie Lorans, Susan Preston, Neil O'Callaghan, Bernard J Pope, Finlay A Macrae, Ingrid M Winship, Roger L Milne, Graham G Giles, Dallas R English, John L Hopper, Aung K Win, Mark A Jenkins, Melissa C Southey, Christophe Rosty, Daniel D Buchanan

2018-01-01

In colorectal cancers (CRCs) with tumour mismatch repair (MMR) deficiency, genes involved in the host immune response that contain..

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort

Leon Raskin, Yan Guo, Liping Du, Mark Clendenning, Christophe Rosty, Noralane M Lindor, Stephen B Gruber, Daniel D Buchanan

2017-11-07

The underlying genetic cause of colorectal cancer (CRC) can be identified for 5-10% of all cases, while at least 20% of CRC cases ..

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Henry Rodriguez-Broadbent, Philip J Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hanninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Samuli Ripatti, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie

2017-06-15

While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, c..