RISK FACTORS, SCREENING, PROPHYLAXIS AND OUTCOMES IN INDIVIDUALS FROM BREAST CANCER FAMILIES: KCONFAB FOLLOW-UP STUDY
Grant number: 288704
Having a strong family history of breast cancer is one of the most important risk factors for the disease. Two major genes, BRCA1 and BRCA2, have been identified which, when abnormal, result in an inherited tendency towards developing breast cancer. Women with a strong family history of breast cancer can undergo testing for these gene abnormalities via Family Cancer Centres around Australia. However, once a gene abnormality is found, little is known about the best ways to prevent cancer or detect it early. The Kathleen Cuningham Consortium for Research into Familial Aspects of Breast Cancer (kConFab) has been recruiting families with exceptionally strong histories of breast cancer since 1997..View full description
Related publications (65)
Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort.
Robert J MacInnis, Julia A Knight, Wendy K Chung, Roger L Milne, Alice S Whittemore, Richard Buchsbaum, Yuyan Liao, Nur Zeinomar, Gillian S Dite, Melissa C Southey, David Goldgar, Graham G Giles, Allison W Kurian, null kConFab Investigators, Irene L Andrulis, Esther M John, Mary B Daly, Saundra S Buys, Kelly-Anne Phillips, John L Hopper
BACKGROUND: Clinical guidelines often use predicted lifetime risk from birth to define criteria for making decisions regarding bre..
Survival from breast cancer in women with a BRCA2 mutation by treatment
D Gareth Evans, Kelly-Anne Phillips, Roger L Milne, Robert Fruscio, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Tomasz Huzarski, Zerin Hyder, Claire Forde, Kelly Metcalfe, Leigha Senter, Jeffrey Weitzel, Nadine Tung, Dana Zakalik, Maria Ekholm, Ping Sun, Steven A Narod
BACKGROUND: The impact of various breast-cancer treatments on patients with a BRCA2 mutation has not been studied. We sought to es..
Breast Cancer Chemoprevention: Use and Views of Australian Women and Their Clinicians
Courtney Macdonald, Christobel M Saunders, Louise A Keogh, Morgan Hunter, Danielle Mazza, Sue-Anne Mclachlan, Sandra C Jones, Stephanie Nesci, Michael L Friedlander, John L Hopper, Jon D Emery, Martha Hickey, Roger L Milne, Kelly-Anne Phillips
Guidelines endorse the use of chemoprevention for breast cancer risk reduction. This study examined the barriers and facilitators ..
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium
Hongyan Li, Mary Beth Terry, Antonis C Antoniou, Kelly-Anne Phillips, Karin Kast, Thea M Mooij, Christoph Engel, Catherine Nogues, Dominique Stoppa-Lyonnet, Christine Lasset, Pascaline Berthet, Veronique Mari, Olivier Caron, Daniel Barrowdale, Debra Frost, Carole Brewer, D Gareth Evans, Louise Izatt, Lucy Side, Lisa Walker
BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effect..
Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk
Rebecca D Kehm, Jeanine M Genkinger, Robert J MacInnis, Esther M John, Kelly-Anne Phillips, Gillian S Dite, Roger L Milne, Nur Zeinomar, Yuyan Liao, Julia A Knight, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Kristen D Whitaker, Michael Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis
Although physical activity is associated with lower breast cancer risk for average-risk women, it is not known if this association..
Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC)
Nur Zeinomar, Julia A Knight, Jeanine M Genkinger, Kelly-Anne Phillips, Mary B Daly, Roger L Milne, Gillian S Dite, Rebecca D Kehm, Yuyan Liao, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Esther M John
BACKGROUND: Alcohol consumption and cigarette smoking are associated with an increased risk of breast cancer (BC), but it is uncle..
Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort
Nur Zeinomar, Kelly-Anne Phillips, Mary B Daly, Roger L Milne, Gillian S Dite, Robert J MacInnis, Yuyan Liao, Rebecca D Kehm, Julia A Knight, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Esther M John
Benign breast disease (BBD) is an established breast cancer (BC) risk factor, but it is unclear whether the magnitude of the assoc..
Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study
Rebecca D Kehm, John L Hopper, Esther M John, Kelly-Anne Phillips, Robert J MacInnis, Gillian S Dite, Roger L Milne, Yuyan Liao, Nur Zeinomar, Julia A Knight, Melissa C Southey, Linda Vahdat, Naomi Kornhauser, Tessa Cigler, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon
BACKGROUND: The use of aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) has been associated with reduced breast ca..
10-year performance of four models of breast cancer risk:a validation study
Mary Beth Terry, Yuyan Liao, Alice S Whittemore, Nicole Leoce, Richard Buchsbaum, Nur Zeinotnar, Gillian S Dite, Wendy K Chung, Julia A Knight, Melissa C Southey, Roger L Milne, David Goldgar, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Esther M John
BACKGROUND: Independent validation is essential to justify use of models of breast cancer risk prediction and inform decisions abo..
Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC)
John L Hopper, Gillian S Dite, Robert J MacInnis, Yuyan Liao, Nur Zeinomar, Julia A Knight, Melissa C Southey, Roger L Milne, Wendy K Chung, Graham G Giles, Jeanine M Genkinger, Sue-Anne McLachlan, Michael L Friedlander, Antonis C Antoniou, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Mary B Daly
BACKGROUND: The association between body mass index (BMI) and risk of breast cancer depends on time of life, but it is unknown whe..
Does stress increase risk of breast cancer? A 15-year prospective study
Phyllis Butow, Melanie Price, Joseph Coll, Katherine Tucker, Bettina Meiser, Roger Milne, Judith Wilson, Louise Heiniger, Brandi Baylock, Tracey Bullen, Prue Weideman, Kelly-Anne Phillips
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Body mass index and breast cancer survival: a Mendelian randomization analysis
Qi Guo, Stephen Burgess, Constance Turman, Manjeet K Bolla, Qin Wang, Michael Lush, Jean Abraham, Kristiina Aittomaki, Irene L Andrulis, Carmel Apicella, Volker Arndt, Myrto Barrdahl, Javier Benitez, Christine D Berg, Carl Blomqvist, Stig E Bojesen, Bernardo Bonanni, Judith S Brand, Hermann Brenner, Annegien Broeks
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Risk of uterine cancer for BRCA1 and BRCA2 mutation carriers
YC Lee, RL Milne, S Lheureux, M Friedlander, SA McLachlan, KL Martin, MQ Bernardini, C Smith, S Picken, S Nesci, JL Hopper, KA Phillips
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Antoinette Hollestelle, Frederieke H van der Baan, Andrew Berchuck, Sharon E Johnatty, Katja K Aben, Bjarni A Agnarsson, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Carmel Apicella, Volker Arndt, Norbert Arnold, Banu K Arun, Brita Arver, Alan Ashworth, Laura Baglietto, Rosemary Balleine
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Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk
Xingyi Guo, Jirong Long, Chenjie Zeng, Kyriaki Michailidou, Maya Ghoussaini, Manjeet K Bolla, Qin Wang, Roger L Milne, Xiao-Ou Shu, Qiuyin Cai, Jonathan Beesley, Siddhartha P Kar, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, William Blot, Natalia Bogdanova
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Comparative microRNA profiling of sporadic and BRCA1 associated basal-like breast cancers
Max Yan, Kristy Shield-Artin, David Byrne, Siddhartha Deb, Nic Waddell, Izhak Haviv, Stephen B Fox
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Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Nguyen-Dumont Tu, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, null Shankaracharya, Chad D Huff, Jonathan Ellis
UNLABELLED: Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer fam..
Misperceptions of ovarian cancer risk in women at increased risk for hereditary ovarian cancer
Bettina Meiser, Melanie A Price, Phyllis N Butow, Belinda Rahman, Kathy Tucker, Benjamin Cheah, Adrian Bickerstaffe, John Hopper, Kelly-Anne Phillips
This study assessed the sociodemographic, medical and psychological predictors of accuracy of perceived risk in women at increased..
Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast
Elinor Sawyer, Rebecca Roylance, Christos Petridis, Mark N Brook, Salpie Nowinski, Efterpi Papouli, Olivia Fletcher, Sarah Pinder, Andrew Hanby, Kelly Kohut, Patricia Gorman, Michele Caneppele, Julian Peto, Isabel dos Santos Silva, Nichola Johnson, Ruth Swann, Miriam Dwek, Katherine-Anne Perkins, Cheryl Gillett, Richard Houlston
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and ..
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
D Agarwal, S Pineda, K Michailidou, J Herranz, G Pita, LT Moreno, MR Alonso, J Dennis, Q Wang, MK Bolla, KB Meyer, P Menendez-Rodriguez, D Hardisson, M Mendiola, A Gonzalez-Neira, A Lindblom, S Margolin, A Swerdlow, A Ashworth, N Orr
BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 a..
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Nichola Johnson, Frank Dudbridge, Nick Orr, Lorna Gibson, Michael E Jones, Minouk J Schoemaker, Elizabeth J Folkerd, Ben P Haynes, John L Hopper, Melissa C Southey, Gillian S Dite, Carmel Apicella, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Femke Atsma, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann
INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22..
Diagnostic Chest X-Rays and Breast Cancer Risk before Age 50 Years for BRCA1 and BRCA2 Mutation Carriers
Esther M John, Valerie McGuire, Duncan Thomas, Robert Haile, Hilmi Ozcelik, Roger L Milne, Anna Felberg, Dee W West, Alexander Miron, Julia A Knight, Mary Beth Terry, Mary Daly, Saundra S Buys, Irene L Andrulis, John L Hopper, Melissa C Southey, Graham G Giles, Carmel Apicella, Heather Thorne, Alice S Whittemore
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Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors
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Psychosocial factors and uptake of risk-reducing salpingo-oophorectomy in women at high risk for ovarian cancer
Bettina Meiser, Melanie A Price, Phyllis N Butow, Janan Karatas, Judy Wilson, Louise Heiniger, Brandi Baylock, Margaret Charles, Sue-Anne McLachlan, Kelly-Anne Phillips
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High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer
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UNLABELLED: What's known on the subject? and What does the study add? The risk of developing aggressive prostate cancer is increas..
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
Kristen N Stevens, Xianshu Wang, Zachary Fredericksen, Vernon S Pankratz, Mark H Greene, Irene L Andrulis, Mads Thomassen, Maria Caligo, Katherine L Nathanson, Anna Jakubowska, Ana Osorio, Ute Hamann, Andrew K Godwin, Dominique Stoppa-Lyonnet, Melissa Southey, Saundra S Buys, Christian F Singer, Thomas VO Hansen, Adalgeir Arason, Kenneth Offit
Several common germline variants identified through genome-wide association studies of breast cancer risk in the general populatio..
9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
Helen Warren, Frank Dudbridge, Olivia Fletcher, Nick Orr, Nichola Johnson, John L Hopper, Carmel Apicella, Melissa C Southey, Maryam Mahmoodi, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Linda M Braaf, Kenneth R Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Peter A Fasching, Matthias W Beckmann, Arif B Ekici
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A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
Yuan C Ding, Lesley McGuffog, Sue Healey, Eitan Friedman, Yael Laitman, null Shani-Paluch-Shimon, Bella Kaufman, Annelie Liljegren, Annika Lindblom, Hakan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, Susan M Domchek, Katherine L Nathanson, Timothy R Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda
BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and br..
11q13 is a susceptibility locus for hormone receptor positive breast cancer
Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K Humphreys, Jean Wang, John L Hopper, Gillian S Dite, Carmel Apicella, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L Milne, M Pilar Zamora, Jose Ignacio Arias Perez
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, ..
Enhanced RAD21 cohesin expression confers poor prognosis in BRCA2 and BRCAX, but not BRCA1 familial breast cancers
Max Yan, Huiling Xu, Nic Waddell, Kristy Shield-Artin, Izhak Haviv, Michael J McKay, Stephen B Fox
INTRODUCTION: The RAD21 gene encodes a key component of the cohesin complex, which is essential for chromosome segregation, and to..
Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
Christopher A Maxwell, Javier Benitez, Laia Gomez-Baldo, Ana Osorio, Nuria Bonifaci, Ricardo Fernandez-Ramires, Sylvain V Costes, Elisabet Guino, Helen Chen, Gareth JR Evans, Pooja Mohan, Isabel Catala, Anna Petit, Helena Aguilar, Alberto Villanueva, Alvaro Aytes, Jordi Serra-Musach, Gad Rennert, Flavio Lejbkowicz, Paolo Peterlongo
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcin..
Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers
Jonathan Beesley, Hilda A Pickett, Sharon E Johnatty, Alison M Dunning, Xiaoqing Chen, Jun Li, Kyriaki Michailidou, Yi Lu, David N Rider, Rachel T Palmieri, Michael D Stutz, Diether Lambrechts, Evelyn Despierre, Sandrina Lambrechts, Ignace Vergote, Jenny Chang-Claude, Stefan Nickels, Alina Vrieling, Dieter Flesch-Janys, Shan Wang-Gohrke
Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ..
Adequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancer
BE Kiely, ML Friedlander, RL Milne, L Stanhope, P Russell, MA Jenkins, P Weideman, SA McLachlan, P Grant, JL Hopper, KA Phillips
The aim of this study was to describe the type of risk-reducing gynaecologic surgery (RRGS) and the extent of pathological evaluat..
Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2
Tu Nguyen-Dumont, Lars P Jordheim, Jocelyne Michelon, Nathalie Forey, Sandrine McKay-Chopin, Olga Sinilnikova, Florence Le Calvez-Kelm, Melissa C Southey, Sean V Tavtigian, Fabienne Lesueur
BACKGROUND: The gene CHEK2 encodes a checkpoint kinase playing a key role in the DNA damage pathway. Though CHEK2 has been identif..
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
A Osorio, RL Milne, R Alonso, G Pita, P Peterlongo, A Teule, KL Nathanson, SM Domchek, T Rebbeck, A Lasa, I Konstantopoulou, FB Hogervorst, S Verhoef, MF van Dooren, A Jager, MGEM Ausems, CM Aalfs, CJ van Asperen, M Vreeswijk, Q Waisfisz
BACKGROUND: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic ..
Nuclear and cytoplasmic expressions of ER beta 1 and ER beta 2 are predictive of response to therapy and alters prognosis in familial breast cancers
Max Yan, Mukta Rayoo, Elena A Takano, Stephen B Fox
Estrogen receptor (ER) α has been studied extensively in familial breast cancers but there are limited data on ERβ and its isoform..
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers
KA Schrader, S Masciari, N Boyd, C Salamanca, J Senz, DN Saunders, E Yorida, S Maines-Bandiera, P Kaurah, N Tung, ME Robson, PD Ryan, OI Olopade, SM Domchek, J Ford, C Isaacs, P Brown, J Balmana, AR Razzak, P Miron
BACKGROUND: Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs ex..
Predictors of breast cancer screening behavior in women with a strong family history of the disease
Melanie A Price, Phyllis N Butow, Margaret Charles, Tracey Bullen, Bettina Meiser, Joanne M McKinley, Sue-Anne McLachlan, Kelly-Anne Phillips
This study applied the self-regulation model to examine cognitive and emotional predictors of screening in unaffected women with a..
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Nic Waddell, Jeremy Arnold, Sibylle Cocciardi, Leonard da Silva, Anna Marsh, Joan Riley, Cameron N Johnstone, Mohammed Orloff, Guillaume Assie, Charis Eng, Lynne Reid, Patricia Keith, Max Yan, Stephen Fox, Peter Devilee, Andrew K Godwin, Frans BL Hogervorst, Fergus Couch, Sean Grimmond, James M Flanagan
Extensive expression profiling studies have shown that sporadic breast cancer is composed of five clinically relevant molecular su..
Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival
Elizabeth M Azzato, Jonathan Tyrer, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Ruediger Schulz-Wendtland, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Roger L Milne, Jose Ignacio Arias, Primitiva Menendez, Javier Benitez, Jenny Chang-Claude, Rebecca Hein, Shan Wang-Gohrke, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist
BACKGROUND: Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account..
A BRCA1 promoter variant (rs11655505) and breast cancer risk
Paolo Verderio, Sara Pizzamiglio, Melissa C Southey, Amanda B Spurdle, John L Hopper, Xiaoqing Chen, Jonathan Beesley, Rita K Schmutzler, Christoph Engel, Barbara Burwinkel, Peter Bugert, Filomena Ficarazzi, Siranoush Manoukian, Monica Barile, Barbara Wappenschmidt, Georgia Chenevix-Trench, Paolo Radice, Paolo Peterlongo
BACKGROUND: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C-->T) i..
Use of DNA-Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients
Logan C Walker, Bryony A Thompson, Nic Waddell, Sean M Grimmond, Amanda B Spurdle
A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility..
A PALB2 mutation associated with high risk of breast cancer
Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper
NTRODUCTION: As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PA..
Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors
Jeremy M Arnold, David YH Choong, Ella R Thompson, Nic Waddell, Geoffrey J Lindeman, Jane E Visvader, Ian G Campbell, Georgia Chenevix-Trench
Heterozygous somatic mutations of the transcription factor, GATA-3, have recently been reported in approximately 5% breast of tumo..
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
A Osorio, RL Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, AB Spurdle, J Beesley, X Chen, S Healey, SL Neuhausen, YC Ding, FJ Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to ..
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development.
Jianjun Liu, Kartiki Vasant Desai, Yuqing Li, Shakeela Banu, Yew Kok Lee, Dianbo Qu, Tuomas Heikkinen, Kirsimari Aaltonen, Taru A Muranen, Tasneem Shabbir Kajiji, Carine Bonnard, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, John L Hopper, Melissa C Southey, Hiltrud Brauch, null GENICA Consortium, Georgia Chenevix-Trench, Jonathan Beesley
UNLABELLED: Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease ..
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
Sean V Tavtigian, Peter J Oefner, Davit Babikyan, Anne Hartmann, Sue Healey, Florence Le Calvez-Kelm, Fabienne Lesueur, Graham B Byrnes, Shu-Chun Chuang, Nathalie Forey, Corinna Feuchtinger, Lydie Gioia, Janet Hall, Mia Hashibe, Barbara Herte, Sandrine McKay-Chopin, Alun Thomas, Maxime P Vallee, Catherine Voegele, Penelope M Webb
The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, t..
Expression of the forkhead box transcription factor FOXP1 is associated with oestrogen receptor alpha, oestrogen receptor beta and improved survival in familial breast cancers
M Rayoo, M Yan, EA Takano, GJ Bates, PJ Brown, AH Banham, SB Fox
BACKGROUND: The role of FOXP1 in sporadic breast cancers has been widely studied but its role in familial breast cancers is yet un..
BRCA1 tumours correlate with a HIF-1 alpha phenotype and have a poor prognosis through modulation of hydroxylase enzyme profile expression
M Yan, M Rayoo, EA Takano, H Thorne, SB Fox
BACKGROUND: There are limited data regarding the hypoxia pathway in familial breast cancers. We therefore performed a study of hyp..
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
Sharon E Johnatty, Fergus J Couch, Zachary Fredericksen, Robert Tarrell, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Daphne Gschwantler-Kaulich, Christian F Singer, Christine Fuerhauser, Anneliese Fink-Retter, Susan M Domchek, Katherine L Nathanson, Vernon S Pankratz, Noralane M Lindor, Andrew K Godwin, Maria A Caligo, John Hopper, Melissa C Southey, Graham G Giles
GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of pro..
No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
Amanda B Spurdle, Andrew J Deans, David Duffy, David E Goldgar, Xiaoqing Chen, Jonathan Beesley, Douglas F Easton, Antonis C Antoniou, Susan Peock, Margaret Cook, Katherine L Nathanson, Susan M Domchek, Grant A MacArthur, Georgia Chenevix-Trench
The p27(kip1) protein functions as an inhibitor of cyclin dependent kinase-2, and shows loss of expression in a large percentage o..
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis
Sharon E Johnatty, Jonathan Beesley, Xiaoqing Chen, John L Hopper, Melissa C Southey, Graham G Giles, David E Goldgar, Georgia Chenevix-Trench, Amanda B Spurdle
BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested tha..
The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women
James G Dowty, Felicity Lose, Mark A Jenkins, Jiun-Horng Chang, XiaoQing Chen, Jonathan Beesley, Gillian S Dite, Melissa C Southey, Graham B Byrnes, Andrea Tesoriero, Graham G Giles, John L Hopper, Amanda B Spurdle
RAD51D is a homolog of the RAD51 protein, which is known to be an important component of the DNA repair pathway. A rare missense v..
Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers
Logan C Walker, Nic Waddell, Anette Ten Haaf, Sean Grimmond, Amanda B Spurdle
Germline mutations in BRCA1 or BRCA2 confer an increased lifetime risk of developing breast or ovarian cancer, but variable penetr..
Is MSH2 a breast cancer susceptibility gene?
EE Ming Wong, Andrea A Tesoriero, Gulietta M Pupo, Margaret RE McCredie, Graham G Giles, John L Hopper, Graham J Mann, David E Goldgar, Melissa C Southey
Mutations in the DNA mismatch repair gene MSH2 lead to increased replication error and microsatellite instability and account for ..
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle
The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profile..
Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
Sharon E Johnatty, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, John L Hopper, David L Duffy, Georgia Chenevix-Trench
Association studies aimed at identifying breast cancer susceptibility variants in the progesterone receptor (PGR) gene have been p..
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
Antonis C Antoniou, Amanda B Spurdle, Olga M Sinilnikova, Sue Healey, Karen A Pooley, Rita K Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Wera Hofmann, Christian Sutter, Dieter Niederacher, Helmut Deissler, Trinidad Caldes, Kati Kampjarvi, Heli Nevanlinna, Jacques Simard, Jonathan Beesley, Xiaoqing Chen
Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified..
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
Montserrat Garcia-Closas, Per Hall, Heli Nevanlinna, Karen Pooley, Jonathan Morrison, Douglas A Richesson, Stig E Bojesen, Borge G Nordestgaard, Christen K Axelsson, Jose I Arias, Roger L Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, Pilar Zamora, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Yon-Dschun Ko, Thomas Bruening
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast gr..
BRCA1 promoter methylation in peripheral blood DNA of mutation negative familial breast cancer patients with a BRCA1 tumour phenotype
Cameron Snell, Michael Krypuy, Ee Ming Wong, Maurice B Loughrey, Alexander Dobrovic
INTRODUCTION: Individuals with germline mutations in the BRCA1 gene have an elevated risk of developing breast cancer, and often d..
An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2(CIMBA)
Georgia Chenevix-Trench, Roger L Milne, Antonis C Antoniou, Fergus J Couch, Douglas F Easton, David E Goldgar
BRCA1 and BRCA2 mutations exhibit variable penetrance that is likely to be accounted for, in part, by other genetic factors among ..
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Paul K Lovelock, Amanda B Spurdle, Myth TS Mok, Daniel J Farrugia, Sunil R Lakhani, Sue Healey, Stephen Arnold, Daniel Buchanan, Fergus J Couch, Beric R Henderson, David E Goldgar, Sean V Tavtigian, Georgia Chenevix-Trench, Melissa A Brown
INTRODUCTION: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in t..
Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study
K-A Phillips, MA Jenkins, GJ Lindeman, SA McLachlan, JM McKinley, PC Weideman, JL Hopper, ML Friedlander
This study prospectively evaluated the utilization of cancer risk management strategies in a multi-institutional cohort of BRCA1 a..