ENABLING PERSONALISED RISK ASSESSMENT FOR COLORECTAL CANCER

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

Mark A Jenkins

2021-07-01

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

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

2021-05-01

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

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..

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..

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..

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..

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..

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..

Early-Age-of-Onset Colorectal Carcinoma: An Emerging Public Health Issue

Aung Ko Win, Garrett Friedman, Jose Guillem

2020-01-01

The etiology of colorectal cancer (CRC) is complex and appears to involve a combination of underlying genetic susceptibility, soma..

Pathways to a cancer-free future: a protocol for modelled evaluations to minimise the future burden of colorectal cancer in Australia

Eleonora Feletto, Jie-Bin Lew, Joachim Worthington, Emily He, Michael Caruana, Katherine Butler, Harriet Hui, Natalie Taylor, Emily Banks, Karen Barclay, Kate Broun, Alison Butt, Rob Carter, Jeff Cuff, Anita Dessaix, Hooi Ee, Jon Emery, Ian M Frayling, Paul Grogan, Carol Holden

2020-01-01

INTRODUCTION: With almost 50% of cases preventable and the Australian National Bowel Cancer Screening Program in place, colorectal..

Mortality after breast cancer as a function of time since diagnosis by estrogen receptor status and age at diagnosis

Harindra Jayasekara, Robert J MacInnis, James A Chamberlain, Gillian S Dite, Nicole M Leoce, James G Dowty, Adrian Bickerstaffe, Aung Ko Win, Roger L Milne, Graham G Giles, Mary Beth Terry, Diana M Eccles, Melissa C Southey, John L Hopper

2019-12-15

Our aim was to estimate how long-term mortality following breast cancer diagnosis depends on age at diagnosis, tumor estrogen rece..

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..

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..

Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018)

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, Liselotte van Hest, John L Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loic Le Marchand

2019-03-20

This corrects the article "Cancer Risks for PMS2-Associated Lynch Syndrome" in volume 36 on page 2961.

Early-life exposure to sibling modifies the relationship between CD14 polymorphisms and allergic sensitization

Melisa YZ Lau, Shyamali C Dharmage, John A Burgess, Aung K Win, Adrian J Lowe, Caroline J Lodge, Jennifer Perret, Jennie Hui, Paul S Thomas, Graham Giles, Bruce R Thompson, Michael J Abramson, E Haydn Walters, Melanie C Matheson, Katrina J Allen, Geza Benke, James G Dowty, Bircan Erbas, Iain H Feather, Peter A Frith

2019-03-01

BACKGROUND: Markers of microbial exposure are thought to be associated with risk of allergic sensitization; however, the associati..

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..

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..

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..

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..

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..

The international mismatch repair consortium

MA Jenkins, JC Reece, AK Win

2018-01-01

The International Mismatch Repair Consortium (IMRC) is a collaboration of clinicians and scientists who have agreed to pool and an..

Long-Term Weight Loss After Colorectal Cancer Diagnosis Is Associated With Lower Survival: The Colon Cancer Family Registry

Jonathan M Kocarnik, Xinwei Hua, Sheetal Hardikar, Jamaica Robinson, Noralane M Lindor, Aung Ko Win, John L Hopper, Jane C Figueiredo, John D Potter, Peter T Campbell, Steven Gallinger, Michelle Cotterchio, Scott V Adams, Stacey A Cohen, Amanda I Phipps, Polly A Newcomb

2017-12-01

BACKGROUND: Body weight is associated with colorectal cancer (CRC) risk and survival, but to the authors' knowledge, the impact of..

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

Melissa S DeRycke, Shanaka Gunawardena, Jessica R Balcom, Angela M Pickart, Lindsey A Waltman, Amy J French, Shannon McDonnell, Shaun M Riska, Zachary C Fogarty, Melissa C Larson, Sumit Middha, Bruce W Eckloff, Yan W Asmann, Matthew J Ferber, Robert W Haile, Steven Gallinger, Mark Clendenning, Christophe Rosty, Aung K Win, Daniel D Buchanan

2017-09-01

BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes..

Germline miRNA DNA Variants and the Risk of Colorectal Cancer by Subtype

Noralane M Lindor, Melissa C Larson, Melissa S DeRycke, Shannon K McDonnell, Saurabh Baheti, Zachary C Fogarty, Aung Ko Win, John D Potter, Daniel D Buchanan, Mark Clendenning, Polly A Newcomb, Graham Casey, Steven Gallinger, Loic Le Marchand, John L Hopper, Mark A Jenkins, Ellen L Goode, Stephen N Thibodeau

2017-03-01

MicroRNAs (miRNAs) regulate up to one-third of all protein-coding genes including genes relevant to cancer. Variants within miRNAs..

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Stine V Eriksen, Michael D Walsh, Rhiannon J Walters, Stephen N Thibodeau, Jenna Stewart, Susan Preston, Aung Ko Win, Louisa Flander, Driss Ait Ouakrim, Finlay A Macrae, Alex Boussioutas, Ingrid M Winship, Graham G Giles, John L Hopper, Melissa C Southey, Dallas English, Mark A Jenkins

2017-02-01

BACKGROUND AND AIM: Tumor testing of colorectal cancers (CRC) for mismatch repair (MMR) deficiency is an effective approach to ide..

SNP rs16906252C > T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer

Joice Kuroiwa-Trzmielina, Fan Wang, Robert W Rapkins, Robyn L Ward, Daniel D Buchanan, Aung Ko Win, Mark Clendenning, Christophe Rosty, Melissa C Southey, Ingrid M Winship, John L Hopper, Mark A Jenkins, Jake Olivier, Nicholas J Hawkins, Megan P Hitchins

2016-12-15

PURPOSE: Methylation of the MGMT promoter is the major cause of O6-methylguanine methyltransferase deficiency in cancer and has be..