Nih Australian Breast Cancer Family Registry Southey-Hopper

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

H Jayasekara, RJ MacInnis, JA Chamberlain, GS Dite, NM Leoce, JG Dowty, A Bickerstaffe, AK Win, RL Milne, GG Giles, MB Terry, DM Eccles, MC Southey, JL 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..

Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry

CM Scott, EM Wong, JHE Joo, PA Dugué, CH Jung, N O'Callaghan, J Dowty, GG Giles, JL Hopper, MC Southey

2018-12-01

Breast cancers arising in women carrying a germline mutation in BRCA1 are typically high-grade, early-onset and have distinct morp..

Gene–environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

M Barrdahl, A Rudolph, JL Hopper, MC Southey, A Broeks, PA Fasching, MW Beckmann, M Gago-Dominguez, JE Castelao, P Guénel, T Truong, SE Bojesen, SM Gapstur, MM Gaudet, H Brenner, V Arndt, H Brauch, U Hamann, A Mannermaa, D Lambrechts

2017-11-01

Investigating the most likely causal variants identified by fine-mapping analyses may improve the power to detect gene–environment..

Testing for gene-environment interactions using a prospective family cohort design: Body mass index in early and later adulthood and risk of breast cancer

GS Dite, RJ MacInnis, A Bickerstaffe, JG Dowty, RL Milne, AC Antoniou, P Weideman, C Apicella, GG Giles, MC Southey, MA Jenkins, KA Phillips, A Ko Win, MB Terry, JL Hopper

2017-03-15

The ability to classify people according to their underlying genetic susceptibility to a disease is increasing with new knowledge,..

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

MC Southey, DE Goldgar, R Winqvist, K Pylkäs, F Couch, M Tischkowitz, WD Foulkes, J Dennis, K Michailidou, EJ van Rensburg, T Heikkinen, H Nevanlinna, JL Hopper, T Dörk, KBM Claes, J Reis-Filho, ZL Teo, P Radice, I Catucci, P Peterlongo

2016-12-01

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Popula..

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

A Hollestelle, FH Van Der Baan, A Berchuck, SE Johnatty, KK Aben, BA Agnarsson, K Aittomäki, E Alducci, IL Andrulis, H Anton-Culver, NN Antonenkova, AC Antoniou, C Apicella, V Arndt, N Arnold, BK Arun, B Arver, A Ashworth, L Baglietto, R Balleine

2016-05-01

Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microR..

Breast cancer risk prediction using clinical models and 77 independent risk-associated SNPs for women aged under 50 years: Australian breast cancer family registry

GS Dite, RJ Macinnis, A Bickerstaffe, JG Dowty, R Allman, C Apicella, RL Milne, H Tsimiklis, KA Phillips, GG Giles, MB Terry, MC Southey, JL Hopper

2016-02-01

Background: The extent to which clinical breast cancer risk prediction models can be improved by including information on known su..

Identification of novel genetic markers of breast cancer survival

Q Guo, MK Schmidt, P Kraft, S Canisius, C Chen, S Khan, J Tyrer, MK Bolla, Q Wang, J Dennis, K Michailidou, M Lush, S Kar, J Beesley, AM Dunning, M Shah, K Czene, H Darabi, M Eriksson, D Lambrechts

2015-05-01

Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be be..

Common germline polymorphisms associated with breast cancer-specific survival

A Pirie, Q Guo, P Kraft, S Canisius, DM Eccles, N Rahman, H Nevanlinna, C Chen, S Khan, J Tyrer, MK Bolla, Q Wang, J Dennis, K Michailidou, M Lush, AM Dunning, M Shah, K Czene, H Darabi, M Eriksson

2015-04-22

© 2015 Pirie et al. Introduction: Previous studies have identified common germline variants nominally associated with breast cance..

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

A Rudolph, RL Milne, T Truong, JA Knight, P Seibold, D Flesch-Janys, S Behrens, U Eilber, MK Bolla, Q Wang, J Dennis, AM Dunning, M Shah, HR Munday, H Darabi, M Eriksson, JS Brand, J Olson, CM Vachon, E Hallberg

2015-03-15

A large genotyping project within the Breast Cancer Association Consortium (BCAC) recently identified 41 associations between sing..

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

null Wei-Yu Lin, NJ Camp, M Ghoussaini, J Beesley, K Michailidou, JL Hopper, C Apicella, MC Southey, J Stone, MK Schmidt, A Broeks, LJ Van't Veer, EJ Th Rutgers, K Muir, A Lophatananon, S Stewart-Brown, P Siriwanarangsan, PA Fasching, L Haeberle, AB Ekici

2015-01-01

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the..

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

KS Purrington, S Slettedahl, MK Bolla, K Michailidou, K Czene, H Nevanlinna, SE Bojesen, IL Andrulis, A Cox, P Hall, J Carpenter, D Yannoukakos, C A. Haiman, PA Fasching, A Mannermaa, R Winqvist, H Brenner, A Lindblom, G Chenevix-Trench, J Benitez

2014-11-15

Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candi..

MicroRNA related polymorphisms and breast cancer risk

S Khan, D Greco, K Michailidou, RL Milne, TA Muranen, T Heikkinen, K Aaltonen, J Dennis, MK Bolla, J Liu, P Hall, A Irwanto, K Humphreys, J Li, K Czene, J Chang-Claude, R Hein, A Rudolph, P Seibold, D Flesch-Janys

2014-11-12

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect t..

Breast-cancer risk in families with mutations in PALB2

AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomäki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi

2014-11-01

BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifet..

Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry

ME Work, EM John, IL Andrulis, JA Knight, Y Liao, AM Mulligan, MC Southey, GG Giles, GS Dite, C Apicella, H Hibshoosh, JL Hopper, MB Terry

2014-03-04

Background:Oestrogen receptor (ER)- and progesterone receptor (PR)-negative (ER-PR-) breast cancer is associated with poorer progn..

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age

H Ahsan, J Halpern, MG Kibriya, BL Pierce, L Tong, E Gamazon, V McGuire, A Felberg, J Shi, F Jasmine, S Roy, R Brutus, M Argos, S Melkonian, J Chang-Claude, I Andrulis, JL Hopper, EM John, K Malone, G Ursin

2014-01-01

Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. ..

Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

E Sawyer, R Roylance, C Petridis, MN Brook, S Nowinski, E Papouli, O Fletcher, S Pinder, A Hanby, K Kohut, P Gorman, M Caneppele, J Peto, I dos Santos Silva, N Johnson, R Swann, M Dwek, KA Perkins, C Gillett, R Houlston

2014-01-01

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and ..

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

N Johnson, F Dudbridge, N Orr, L Gibson, ME Jones, MJ Schoemaker, EJ Folkerd, BP Haynes, JL Hopper, MC Southey, GS Dite, C Apicella, MK Schmidt, A Broeks, LJ Van't Veer, F Atsma, K Muir, A Lophatananon, PA Fasching, MW Beckmann

2014-01-01

Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22..

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

A Schoeps, A Rudolph, P Seibold, AM Dunning, RL Milne, SE Bojesen, A Swerdlow, I Andrulis, H Brenner, S Behrens, N Orr, M Jones, A Ashworth, J Li, H Cramp, D Connley, K Czene, H Darabi, SJ Chanock, J Lissowska

2014-01-01

Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association ..

Rare mutations in RINT1 predispose carriers to breast and lynch syndrome-Spectrum cancers

DJ Park, K Tao, F Le Calvez-Kelm, T Nguyen-Dumont, N Robinot, F Hammet, F Odefrey, H Tsimiklis, ZL Teo, LB Thingholm, EL Young, C Voegele, A Lonie, BJ Pope, TC Roane, R Bell, H Hu, null Shankaracharya, CD Huff, J Ellis

2014-01-01

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-se..

Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey

2013-07-09

Background:Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high br..

Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model

GS Dite, M Mahmoodi, A Bickerstaffe, F Hammet, RJ Macinnis, H Tsimiklis, JG Dowty, C Apicella, KA Phillips, GG Giles, MC Southey, JL Hopper

2013-06-01

It has been shown that, for women aged 50 years or older, the discriminatory accuracy of the Breast Cancer Risk Prediction Tool (B..

Risk of pancreatic cancer in breast cancer families from the breast cancer family registry

E Mocci, RL Milne, EY Mendez-Villamil, JL Hopper, EM John, IL Andrulis, WK Chung, M Daly, SS Buys, N Malats, DE Goldgar

2013-05-01

Background: Increased risk of pancreatic cancer has been reported in breast cancer families carrying BRCA1and BRCA2 mutations; how..

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

M Garcia-Closas, FJ Couch, S Lindstrom, K Michailidou, MK Schmidt, MN Brook, N Orr, SK Rhie, E Riboli, HS Feigelson, L Le Marchand, JE Buring, D Eccles, P Miron, PA Fasching, H Brauch, J Chang-Claude, J Carpenter, AK Godwin, H Nevanlinna

2013-04-01

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women..

Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

S Nickels, T Truong, R Hein, K Stevens, K Buck, S Behrens, U Eilber, M Schmidt, L Häberle, A Vrieling, M Gaudet, J Figueroa, N Schoof, AB Spurdle, A Rudolph, PA Fasching, JL Hopper, E Makalic, DF Schmidt, MC Southey

2013-03-27

Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with li..

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

FJ Gracia-Aznarez, V Fernandez, G Pita, P Peterlongo, O Dominguez, M de la Hoya, M Duran, A Osorio, L Moreno, A Gonzalez-Neira, JM Rosa-Rosa, O Sinilnikova, S Mazoyer, J Hopper, C Lazaro, M Southey, F Odefrey, S Manoukian, I Catucci, T Caldes

2013-02-08

The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustai..

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

FJ Couch, J Cunningham, K Stevens, X Wang, L McGuffog, A Lee, KB Kuchenbaecker, D Barrowdale, J Dennis, E Dicks, S Peock, D Frost, S Ellis, E Fineberg, R Platte, DF Easton, AC Antoniou, Z Miedzybrodzka, H Gregory, P Morrison

2013-01-01

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modif..

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

MM Gaudet, KB Kuchenbaecker, J Vijai, RJ Klein, T Kirchhoff, L McGuffog, D Barrowdale, AM Dunning, A Lee, J Dennis, S Healey, E Dicks, P Soucy, OM Sinilnikova, VS Pankratz, X Wang, RC Eldridge, DC Tessier, D Vincent, F Bacot

2013-01-01

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to dat..

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

F Le Calvez-Kelm, J Oliver, F Damiola, N Forey, N Robinot, G Durand, C Voegele, MP Vallée, G Byrnes, null Breast Cancer Family Registry, JL Hopper, MC Southey, IL Andrulis, EM John, SV Tavtigian, F Lesueur

2012-12-27

Background: Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved i..

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

A Siddiq, FJ Couch, GK Chen, S Lindström, D Eccles, RC Millikan, K Michailidou, DO Stram, L Beckmann, SK Rhie, CB Ambrosone, K Aittomäki, P Amiano, C Apicella, L Baglietto, EV Bandera, MW Beckmann, CD Berg, L Bernstein, C Blomqvist

2012-12-15

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susc..

Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

BL Brewster, F Rossiello, JD French, SL Edwards, M Wong, A Wronski, P Whiley, N Waddell, X Chen, B Bove, null KconFab, JL Hopper, EM John, I Andrulis, M Daly, S Volorio, L Bernard, B Peissel, S Manoukian, M Barile

2012-12-01

Mutations in the BRCA1 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited..

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

KN Stevens, X Wang, Z Fredericksen, VS Pankratz, MH Greene, IL Andrulis, M Thomassen, M Caligo, KL Nathanson, A Jakubowska, A Osorio, U Hamann, AK Godwin, D Stoppa-Lyonnet, M Southey, SS Buys, CF Singer, TVO Hansen, A Arason, K Offit

2012-11-01

Several common germline variants identified through genome-wide association studies of breast cancer risk in the general populatio..

Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry

GS Dite, E Makalic, DF Schmidt, GG Giles, JL Hopper, MC Southey

2012-08-28

Introduction: We hypothesised that breast cancer risk for relatives of women with early-onset breast cancer could be predicted by ..

Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

R Hein, M Maranian, JL Hopper, MK Kapuscinski, MC Southey, DJ Park, MK Schmidt, A Broeks, FBL Hogervorst, HB Bueno-de-Mesquit, KR Muir, A Lophatananon, S Rattanamongkongul, P Puttawibul, PA Fasching, A Hein, AB Ekici, MW Beckmann, O Fletcher, N Johnson

2012-08-07

The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide ..

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

YC Ding, L McGuffog, S Healey, E Friedman, Y Laitman, SP Shimon, B Kaufman, A Liljegren, A Lindblom, H Olsson, U Kristoffersson, M Stenmark-Askmalm, B Melin, SM Domchek, KL Nathanson, TR Rebbeck, A Jakubowska, J Lubinski, K Jaworska, K Durda

2012-08-01

Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and br..

Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry

ME Work, IL Andrulis, EM John, JL Hopper, Y Liao, FF Zhang, JA Knight, DW West, RL Milne, GG Giles, TA Longacre, F O'Malley, AM Mulligan, MC Southey, H Hibshoosh, MB Terry

2012-08-01

Epidemiologic studies of histologic types of breast cancer including mucinous, medullary, and tubular carcinomas have primarily re..

11q13 is a susceptibility locus for hormone receptor positive breast cancer

D Lambrechts, T Truong, C Justenhoven, MK Humphreys, J Wang, JL Hopper, GS Dite, C Apicella, MC Southey, MK Schmidt, A Broeks, S Cornelissen, R van Hien, E Sawyer, I Tomlinson, M Kerin, N Miller, RL Milne, MP Zamora, JIA Pérez

2012-07-01

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, ..

Rare mutations in XRCC2 increase the risk of breast cancer

DJ Park, F Lesueur, T Nguyen-Dumont, M Pertesi, F Odefrey, F Hammet, SL Neuhausen, EM John, IL Andrulis, MB Terry, M Daly, S Buys, F Le Calvez-Kelm, A Lonie, BJ Pope, H Tsimiklis, C Voegele, FM Hilbers, N Hoogerbrugge, A Barroso

2012-04-06

An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutation..

19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

KN Stevens, Z Fredericksen, CM Vachon, X Wang, S Margolin, A Lindblom, H Nevanlinna, D Greco, K Aittomak̈i, C Blomqvist, J Chang-Claude, A Vrieling, D Flesch-Janys, HP Sinn, S Wang-Gohrke, S Nickels, H Brauch, YD Ko, HP Fischer, RK Schmutzler

2012-04-01

The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associat..

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

SJ Ramus, AC Antoniou, KB Kuchenbaecker, P Soucy, J Beesley, X Chen, L McGuffog, OM Sinilnikova, S Healey, D Barrowdale, A Lee, M Thomassen, AM Gerdes, TA Kruse, UB Jensen, AB Skytte, MA Caligo, A Liljegren, A Lindblom, H Olsson

2012-04-01

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association ..

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

H Warren, F Dudbridge, O Fletcher, N Orr, N Johnson, JL Hopper, C Apicella, MC Southey, M Mahmoodi, MK Schmidt, A Broeks, S Cornelissen, LM Braaf, KR Muir, A Lophatananon, A Chaiwerawattana, S Wiangnon, PA Fasching, MW Beckmann, AB Ekici

2012-01-01

Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). M..

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Andrew Lee, Daniel Barrowdale, Sue Healey, Olga M Sinilnikova, Maria A Caligo, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Richard Rosenquist, Per Karlsson, Kate Nathanson, Susan Domchek, Tim Rebbeck

2012-01-01

INTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 m..

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

FJ Couch, MM Gaudet, AC Antoniou, SJ Ramus, KB Kuchenbaecker, P Soucy, J Beesley, X Chen, X Wang, T Kirchhoff, L McGuffog, D Barrowdale, A Lee, S Healey, OM Sinilnikova, IL Andrulis, H Ozcelik, AM Mulligan, M Thomassen, AM Gerdes

2012-01-01

Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast ..

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: Results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA)

N Mavaddat, D Barrowdale, IL Andrulis, SM Domchek, D Eccles, H Nevanlinna, SJ Ramus, A Spurdle, M Robson, M Sherman, AM Mulligan, FJ Couch, C Engel, L McGuffog, S Healey, OM Sinilnikova, MC Southey, MB Terry, D Goldgar, F O'Malley

2012-01-01

Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger ..

The role of genetic breast cancer susceptibility variants as prognostic factors

PA Fasching, PDP Pharoah, A Cox, H Nevanlinna, SE Bojesen, T Karn, A Broeks, FE Van Leeuwen, LJ Van't Veer, R Udo, AM Dunning, D Greco, K Aittomäki, C Blomqvist, M Shah, BG Nordestgaard, H Flyger, JL Hopper, MC Southey, C Apicella

2012-01-01

Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) ris..

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

CMT Greenwood, AD Paterson, L Linton, IL Andrulis, C Apicella, A Dimitromanolakis, V Kriukov, LJ Martin, A Salleh, E Samiltchuk, RV Parekh, MC Southey, EM John, JL Hopper, NF Boyd, JM Rommens

2011-12-21

Introduction: Mammographic breast density is a highly heritable (h²> 0.6) and strong risk factor for breast cancer. We..

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

KN Stevens, M Garcia-Closas, Z Fredericksen, M Kosel, VS Pankratz, JL Hopper, GS Dite, C Apicella, MC Southey, MK Schmidt, A Broeks, LJ Van T Veer, RAEM Tollenaar, PA Fasching, MW Beckmann, A Hein, AB Ekici, N Johnson, J Peto, I Dos Santos Silva

2011-12-06

Background: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and hav..

Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium

JD Figueroa, M Garcia-Closas, M Humphreys, R Platte, JL Hopper, MC Southey, C Apicella, F Hammet, MK Schmidt, A Broeks, RAEM Tollenaar, LJ Van't Veer, PA Fasching, MW Beckmann, AB Ekici, R Strick, J Peto, IDS Silva, O Fletcher, N Johnson

2011-12-01

A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast..

Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: Findings from the breast cancer family registry

AW Kurian, GD Gong, EM John, DA Johnston, A Felberg, DW West, A Miron, IL Andrulis, JL Hopper, JA Knight, H Ozcelik, GS Dite, C Apicella, MC Southey, AS Whittemore

2011-12-01

Purpose: Women with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian canc..

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

DG Cox, J Simard, D Sinnett, Y Hamdi, P Soucy, M Ouimet, L Barjhoux, C Verny-Pierre, L McGuffog, S Healey, C Szabo, MH Greene, PL Mai, IL Andrulis, G Glendon, T Selander, N Weerasooriya, M Thomassen, AM Gerdes, MA Caligo

2011-12-01

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in ..

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer

DJ Park, FA Odefrey, F Hammet, GG Giles, L Baglietto, null Abcfs, null McCs, JL Hopper, DF Schmidt, E Makalic, OM Sinilnikova, DE Goldgar, MC Southey

2011-12-01

We are interested in the characterisation of previously undescribed contributions to the heritable component of human cancers. To ..

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

AM Mulligan, FJ Couch, D Barrowdale, SM Domchek, D Eccles, H Nevanlinna, SJ Ramus, M Robson, M Sherman, AB Spurdle, B Wappenschmidt, A Lee, L McGuffog, S Healey, OM Sinilnikova, R Janavicius, TV Hansen, FC Nielsen, B Ejlertsen, A Osorio

2011-11-02

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated wi..

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

CA Maxwell, J Benítez, L Gómez-Baldó, A Osorio, N Bonifaci, R Fernández-Ramires, SV Costes, E Guinó, H Chen, GJR Evans, P Mohan, I Català, A Petit, H Aguilar, A Villanueva, A Aytes, J Serra-Musach, G Rennert, F Lejbkowicz, P Peterlongo

2011-11-01

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcin..

7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

RL Milne, J Lorenzo-Bermejo, B Burwinkel, N Malats, JI Arias, M Pilar Zamora, J Benítez, MK Humphreys, M García-Closas, SJ Chanock, J Lissowska, ME Sherman, A Mannermaa, V Kataja, VM Kosma, H Nevanlinna, T Heikkinen, K Aittomäki, C Blomqvist, H Anton-Culver

2011-10-01

Background Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism..

The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: An example from the breast cancer family registry

RL Milne, EM John, JA Knight, GS Dite, MC Southey, GG Giles, C Apicella, DW West, IL Andrulis, AS Whittemore, JL Hopper

2011-10-01

Background: A previous Australian population-based breast cancer case-control study found indirect evidence that control participa..

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium

A Broeks, MK Schmidt, ME Sherman, FJ Couch, JL Hopper, GS Dite, C Apicella, LD Smith, F Hammet, MC Southey, LJ Van't Veer, R De Groot, VTHBM Smit, PA Fasching, MW Beckmann, S Jud, AB Ekici, A Hartmann, A Hein, R Schulz-Wendtland

2011-08-15

Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk asso..

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

AC Antoniou, C Kartsonaki, OM Sinilnikova, P Soucy, L McGuffog, S Healey, A Lee, P Peterlongo, S Manoukian, B Peissel, D Zaffaroni, E Cattaneo, M Barile, V Pensotti, B Pasini, R Dolcetti, G Giannini, AL Putignano, L Varesco, P Radice

2011-08-01

Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast can..

Rare variants in the ATM gene and risk of breast cancer

DE Goldgar, S Healey, JG Dowty, L Da Silva, X Chen, AB Spurdle, MB Terry, MJ Daly, SM Buys, MC Southey, I Andrulis, EM John, KK Khanna, JL Hopper, PJ Oefner, S Lakhani, G Chenevix-Trench

2011-07-25

Introduction: The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a protein kinase that plays a significant role ..

A role for XRCC2 gene polymorphisms in breast cancer risk and survival

WY Lin, NJ Camp, LA Cannon-Albright, K Allen-Brady, S Balasubramanian, MWR Reed, JL Hopper, C Apicella, GG Giles, MC Southey, RL Milne, JI Arias-Perez, P Menendez-Rodriguez, J Benitez, M Grundmann, N Dubrowinskaja, TW Park-Simon, T Dork, M Garcia-Closas, J Figueroa

2011-07-01

Background: The XRCC2 gene is a key mediator in the homologous recombination repair of DNA double strand breaks. It is hypothesise..

Morphological predictors of BRCA1 germline mutations in young women with breast cancer

MC Southey, SJ Ramus, JG Dowty, LD Smith, AA Tesoriero, EEM Wong, GS Dite, MA Jenkins, GB Byrnes, I Winship, KA Phillips, GG Giles, JL Hopper

2011-03-15

Background:Knowing a young woman with newly diagnosed breast cancer has a germline BRCA1 mutation informs her clinical management ..

Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies

XR Yang, J Chang-Claude, EL Goode, FJ Couch, H Nevanlinna, RL Milne, M Gaudet, MK Schmidt, A Broeks, A Cox, PA Fasching, R Hein, AB Spurdle, F Blows, K Driver, D Flesch-Janys, J Heinz, P Sinn, A Vrieling, T Heikkinen

2011-02-02

Background Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progeste..

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: A report from The Breast Cancer Family Registry

LD Smith, AA Tesoriero, EM Wong, SJ Ramus, FP O'Malley, AM Mulligan, MB Terry, RT Senie, RM Santella, EM John, IL Andrulis, H Ozcelik, MB Daly, AK Godwin, SS Buys, S Fox, DE Goldgar, GG Giles, JL Hopper, MC Southey

2011-01-31

Introduction: Selecting women affected with breast cancer who are most likely to carry a germline mutation in BRCA1 and applying t..

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

SJ Ramus, C Kartsonaki, SA Gayther, PDP Pharoah, OM Sinilnikova, J Beesley, X Chen, L McGuffog, S Healey, FJ Couch, X Wang, Z Fredericksen, P Peterlongo, S Manoukian, B Peissel, D Zaffaroni, G Roversi, M Barile, A Viel, A Allavena

2011-01-19

Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Alth..

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast cancer family registry case-control mutation-screening study

F Le Calvez-Kelm, F Lesueur, F Damiola, M Vallée, C Voegele, D Babikyan, G Durand, N Forey, S McKay-Chopin, N Robinot, T Nguyen-Dumont, A Thomas, GB Byrnes, JL Hopper, MC Southey, IL Andrulis, EM John, SV Tavtigian

2011-01-18

Introduction: Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. Ho..

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

RL Milne, EL Goode, M García-Closas, FJ Couch, G Severi, R Hein, Z Fredericksen, N Malats, MP Zamora, JIA Pérez, J Benítez, T Dörk, P Schürmann, JH Karstens, P Hillemanns, A Cox, IW Brock, G Elliot, SS Cross, S Seal

2011-01-01

Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, p..

Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer

EM Wong, MC Southey, SB Fox, MA Brown, JG Dowty, MA Jenkins, GG Giles, JL Hopper, A Dobrovic

2011-01-01

Women carrying germline mutations in BRCA1 are at a substantially elevated risk of breast cancer and their tumors typically have d..

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

2011-01-01

Background: Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs ex..

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: A combined case-control study

RL Milne, MM Gaudet, AB Spurdle, PA Fasching, FJ Couch, J Benítez, JI Arias Pérez, MP Zamora, N Malats, I dos Santos Silva, LJ Gibson, O Fletcher, N Johnson, H Anton-Culver, A Ziogas, J Figueroa, L Brinton, ME Sherman, J Lissowska, JL Hopper

2010-12-31

Introduction: Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine ho..

A PALB2 mutation associated with high risk of breast cancer

MC Southey, ZL Teo, JG Dowty, FA Odefrey, DJ Park, M Tischkowitz, N Sabbaghian, C Apicella, GB Byrnes, I Winship, L Baglietto, GG Giles, DE Goldgar, WD Foulkes, JL Hopper

2010-12-23

Introduction: As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (P..

Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations

GS Dite, AS Whittemore, JA Knight, EM John, RL Milne, IL Andrulis, MC Southey, MRE McCredie, GG Giles, A Miron, AI Phipps, DW West, JL Hopper

2010-09-28

Background:Little is known regarding cancer risks for relatives of women with very early-onset breast cancer.Methods:We studied 22..

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

O Fletcher, N Johnson, I Dos Santos Silva, A Ashworth, H Nevanlinna, T Heikkinen, K Aittomäki, C Blomqvist, B Burwinkel, CR Bartram, A Meindl, RK Schmutzler, A Cox, I Brock, G Elliott, MWR Reed, MC Southey, L Smith, AB Spurdle, JL Hopper

2010-09-01

Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants ..

Past recreational physical activity, body size, and all-cause mortality following breast cancer diagnosis: Results from the breast cancer family registry

THM Keegan, RL Milne, IL Andrulis, ET Chang, M Sangaramoorthy, KA Phillips, GG Giles, PJ Goodwin, C Apicella, JL Hopper, AS Whittemore, EM John

2010-09-01

Few studies have considered the joint association of body mass index (BMI) and physical activity, two modifiable factors, with all..

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian breast cancer family study

J Mouchawar, C Korch, T Byers, TM Pitts, E Li, MRE McCredie, GG Giles, JL Hopper, MC Southey

2010-06-15

Although germline TP53 mutations have been identified in women with breast cancer from families meeting Li-Fraumeni criteria, thei..

A BRCA1 promoter variant (rs11655505) and breast cancer risk

P Verderio, S Pizzamiglio, MC Southey, AB Spurdle, JL Hopper, X Chen, J Beesley, RK Schmutzler, C Engel, B Burwinkel, P Bugert, F Ficarazzi, S Manoukian, M Barile, B Wappenschmidt, G Chenevix-Trench, P Radice, P Peterlongo

2010-04-01

Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) inc..

Family-based association study of IGF1 microsatellites and height, weight, and body mass index

G Fehringer, H Ozcelik, JA Knight, AD Paterson, GS Dite, GG Giles, MC Southey, IL Andrulis, JL Hopper, NF Boyd

2010-04-01

Height, weight, and body mass index (BMI) are partly heritable, known to be associated with chronic diseases, and are linked to ci..

Socio-economic Status and Survival from breast cancer for young, Australian, urban women

KI Morley, RL Milne, GG Giles, MC Southey, C Apicella, JL Hopper, KA Phillips

2010-04-01

Objective: To estimate the association between measures of socio-economic status (SES) and breast cancer (BC) survival for young, ..

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

AC Antoniou, X Wang, ZS Fredericksen, L McGuffog, R Tarrell, OM Sinilnikova, S Healey, J Morrison, C Kartsonaki, T Lesnick, M Ghoussaini, D Barrowdale, S Peock, M Cook, C Oliver, D Frost, D Eccles, DG Evans, R Eeles, L Izatt

2010-01-01

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide assoc..

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

2009-12-01

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

J Liu, KV Desai, Y Li, S Banu, YK Lee, D Qu, T Heikkinen, K Aaltonen, TA Muranen, TS Kajiji, C Bonnard, K Aittomäki, K von Smitten, C Blomqvist, JL Hopper, MC Southey, H Brauch, G Chenevix-Trench, J Beesley, AB Spurdle

2009-12-01

Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease development,..

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

AC Antoniou, OM Sinilnikova, L McGuffog, S Healey, H Nevanlinna, T Heikkinen, J Simard, AB Spurdle, J Beesley, X Chen, SL Neuhausen, YC Ding, FJ Couch, X Wang, Z Fredericksen, P Peterlongo, B Peissel, B Bonanni, A Viel, L Bernard

2009-11-15

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associat..

Family-based genetic association study of insulin-like growth factor i microsatellite markers and premenopausal breast cancer risk

G Fehringer, NF Boyd, JA Knight, AD Paterson, GS Dite, GG Giles, MC Southey, IL Andrulis, JL Hopper, H Ozcelik

2009-11-01

Several studies suggest that higher circulating insulin-like growth factor I (IGF-I) levels are associated with premenopausal brea..

Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

SV Tavtigian, PJ Oefner, D Babikyan, A Hartmann, S Healey, F Le Calvez-Kelm, F Lesueur, GB Byrnes, SC Chuang, N Forey, C Feuchtinger, L Gioia, J Hall, M Hashibe, B Herte, S McKay-Chopin, A Thomas, MP Vallée, C Voegele, PM Webb

2009-10-09

The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, t..

Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry

ET Chang, RL Milne, KA Phillips, JC Figueiredo, M Sangaramoorthy, THM Keegan, IL Andrulis, JL Hopper, PJ Goodwin, FP O'Malley, N Weerasooriya, C Apicella, MC Southey, ML Friedlander, GG Giles, AS Whittemore, DW West, EM John

2009-09-01

Although having a family history of breast cancer is a well established breast cancer risk factor, it is not known whether it infl..

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

SE Johnatty, FJ Couch, Z Fredericksen, R Tarrell, AB Spurdle, J Beesley, X Chen, D Gschwantler-Kaulich, CF Singer, C Fuerhauser, A Fink-Retter, SM Domchek, KL Nathanson, VS Pankratz, NM Lindor, AK Godwin, MA Caligo, J Hopper, MC Southey, GG Giles

2009-09-01

GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of pro..

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: An open resource for collaborative research

SL Neuhausen, H Ozcelik, MC Southey, EM John, AK Godwin, W Chung, J Iriondo-Perez, A Miron, RM Santella, A Whittemore, IL Andrulis, SS Buys, MB Daly, JL Hopper, D Seminara, RT Senie, MB Terry

2009-07-01

The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of bre..

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

RL Milne, J Benítez, H Nevanlinna, T Heikkinen, K Aittomäki, C Blomqvist, JI Arias, MP Zamora, B Burwinkel, CR Bartram, A Meindl, RK Schmutzler, A Cox, I Brock, G Elliott, MWR Reed, MC Southey, L Smith, AB Spurdle, JL Hopper

2009-07-01

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of su..

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

T Nguyen-Dumont, F Le Calvez-Kelm, N Forey, S McKay-Chopin, S Garritano, L Gioia-Patricola, D De Silva, R Weigel, S Sangrajrang, F Lesueur, SV Tavtigian

2009-06-01

Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence v..

Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry

KA Phillips, RL Milne, DW West, PJ Goodwin, GG Giles, ET Chang, JC Figueiredo, ML Friedlander, THM Keegan, G Glendon, C Apicella, FP O'Malley, MC Southey, IL Andrulis, EM John, JL Hopper

2009-06-01

Studies have examined the prognostic relevance of reproductive factors before breast cancer diagnosis, but most have been small an..

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

S Ahmed, G Thomas, M Ghoussaini, CS Healey, MK Humphreys, R Platte, J Morrison, M Maranian, KA Pooley, R Luben, D Eccles, DG Evans, O Fletcher, N Johnson, I Dos Santos Silva, J Peto, MR Stratton, N Rahman, K Jacobs, R Prentice

2009-05-01

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fra..

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A multi-center cohort study

TR Rebbeck, AC Antoniou, TC Llopis, H Nevanlinna, K Aittomäki, J Simard, AB Spurdle, FJ Couch, LHM Pereira, MH Greene, IL Andrulis, B Pasche, V Kaklamani, U Hamann, C Szabo, S Peock, M Cook, PA Harrington, A Donaldson, AM Male

2009-05-01

Background The transforming growth factor β-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P var..

The BARD1 Cys557Ser polymorphism and breast cancer risk: An Australian case-control and family analysis

SE Johnatty, J Beesley, X Chen, JL Hopper, MC Southey, GG Giles, DE Goldgar, G Chenevix-Trench, AB Spurdle

2009-05-01

BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested tha..

Association of ESR1 gene tagging SNPs with breast cancer risk

AM Dunning, CS Healey, C Baynes, AT Maia, S Scollen, A Vega, R Rodríguez, NL Barbosa-Morais, BAJ Ponder, YL Low, S Bingham, CA Haiman, L Le Marchand, A Broeks, MK Schmidt, J Hopper, M Southey, MW Beckmann, PA Fasching, J Peto

2009-03-13

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variant..

Predictors of mammographic density: Insights gained from a novel regression analysis of a twin study

GS Dite, LC Gurrin, GB Byrnes, J Stone, A Gunasekara, MRE McCredie, DR English, GG Giles, J Cawson, RA Hegele, AM Chiarelli, MJ Yaffe, NF Boyd, JL Hopper

2008-12-01

Understanding which factors influence mammographically dense and nondense areas is important because percent mammographic density ..

The RAD51D E233G variant and breast cancer risk: Population-based and clinic-based family studies of Australian women

JG Dowty, F Lose, MA Jenkins, JH Chang, XQ Chen, J Beesley, GS Dite, MC Southey, GB Byrnes, A Tesoriero, GG Giles, JL Hopper, AB Spurdle

2008-11-01

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..

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

F Hammet, J George, AA Tesoriero, MA Jenkins, C Schroen, L Smith, A Grabosch-Meehan, G Dite, MRE McCredie, GG Giles, SV Tavtigian, JL Hopper, MC Southey

2008-05-01

A systematic approach to analysing gene-gene interactions: Polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk

AB Spurdle, JH Chang, GB Byrnes, X Chen, GS Dite, MRE McCredie, GG Giles, MC Southey, G Chenevix-Trench, JL Hopper

2007-04-01

Objective: We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to..

BRCA1 promoter deletions in young women with breast cancer and a strong family history: A population-based study

LD Smith, AA Tesoriero, SJ Ramus, G Dite, SG Royce, GG Giles, MRE McCredie, JL Hopper, MC Southey

2007-03-01

Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer wer..

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the breast cancer family registry

JL Bernstein, S Teraoka, MC Southey, MA Jenkins, IL Andrulis, JA Knight, EM John, R Lapinski, AL Wolitzer, AS Whittemore, D West, D Seminara, ER Olson, AB Spurdle, G Chenevix-Trench, GG Giles, JL Hopper, P Concannon

2006-11-01

The ATM gene variants segregating in ataxia-telangiectasia families are associated with increased breast cancer risk, but the cont..

Determinants of preferences for genetic counselling in Jewish women

C Apicella, SJ Peacock, L Andrews, K Tucker, A Bankier, MB Daly, JL Hopper

2006-06-01

Introduction: Patient preferences are central to the economic appraisal of health services. Cancer genetic services are relatively..

The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

AB Spurdle, AC Antoniou, L Kelemen, H Holland, S Peock, MR Cook, PL Smith, MH Greene, J Simard, M Plourde, MC Southey, AK Godwin, J Beck, A Miron, MB Daly, RM Santella, JL Hopper, EM John, IL Andrulis, F Durocher

2006-01-01

This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying..

Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk

B Kuschel, G Chenevix-Trench, AB Spurdle, X Chen, JL Hopper, GG Giles, M McCredie, J Chang-Claude, CS Gregory, NE Day, DF Easton, BAJ Ponder, AM Dunning, PDP Pharoah

2005-07-01

A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. T..

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

AB Spurdle, AC Antoniou, DL Duffy, N Pandeya, L Kelemen, X Chen, S Peock, MR Cook, PL Smith, DM Purdie, B Newman, GS Dite, C Apicella, MC Southey, GG Giles, JL Hopper, G Chenevix-Trench, DF Easton

2005-01-01

INTRODUCTION: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9-32 glutamines. Women with germl..

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

AB Spurdle, JL Hopper, X Chen, MRE McCredie, GG Giles, B Newman, G Chenevix-Trench, KK Khanna

2002-12-01

Background: There is evidence that certain mutations in the double-strand break repair pathway ataxia-telangiectasia mutated gene ..

Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women

AB Spurdle, JL Hopper, X Chen, MRE McCredie, GG Giles, B Newman, G Chenevix-Trench

2002-09-21

A C to T transition within the 3′ untranslated region of the prohibitin gene alters mRNA function, and an association between the ..

Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

IL Andrulis, H Anton-Culver, J Beck, B Bove, J Boyd, S Buys, AK Godwin, JL Hopper, F Li, SL Neuhausen, H Ozcelik, D Peel, RM Santella, MC Southey, NJ Van Orsouw, DJ Venter, J Vijg, AS Whittemore

2002-06-27

A number of methods are used for mutational analysis of BRCA1, a large multi-exon gene. A comparison was made of five methods to d..

Dominant negative ATM mutations in breast cancer families

G Chenevix-Trench, AB Spurdle, M Gatei, H Kelly, A Marsh, X Chen, K Donn, M Cummings, D Nyholt, MA Jenkins, C Scott, GM Pupo, T Dörk, R Bendix, J Kirk, K Tucker, MRE McCredie, JL Hopper, J Sambrook, GJ Mann

2002-02-06

Background: The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive diso..

The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years

AB Spurdle, JL Hopper, X Chen, GS Dite, J Cui, MRE McCredie, GG Giles, S Ellis-Steinborner, DJ Venter, B Newman, MC Southey, G Chenevix-Trench

2002-01-01

The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, a..

The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women

AB Spurdle, JL Hopper, X Chen, MRE McCredie, GG Giles, DJ Venter, MC Southey, G Chenevix-Trench

2002-01-01

An Alu insertion polymorphism of the progesterone receptor (PR) was reported recently to be associated with a reduced risk of brea..

After BRCA1 and BRCA2 - What next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer

J Cui, AC Antoniou, GS Dite, MC Southey, DJ Venter, DF Easton, GG Giles, MRE McCredie, JL Hopper

2001-01-01

Mutations in BRCA1 and BRCA2 that cause a dominantly inherited high risk of female breast cancer seem to explain only a small prop..

Segregation analyses of 1,476 population-based Australian families affected by prostate cancer

J Cui, MP Staples, JL Hopper, DR English, MRE McCredie, GG Giles

2001-01-01

Segregation analyses aim to detect genetic factors that have a major effect on an individual's risk of disease and to describe the..

The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women

AB Spurdle, X Chen, G Chenevix-Trench, JL Hopper, GS Dite, MRE McCredie, GG Giles, DJ Venter, MC Southey, DM Purdie

2001-01-01

The enzyme 5α-reductase type II (SRD5A2) converts testosterone to its more active form 5α-dihydroxytestosterone. The 3′ untranslat..