Breast Cancer Family Registry Cohort

Risks of non-breast, non-ovarian cancers for BRCA1 and BRCA2 pathogenic variant carriers: a prospective cohort study

R Yang, RJ MacInnis, RL Milne, T Nguyen-Dumont, WF Maxwell, JM Genkinger, G Glendon, EA Ross, IL Andrulis, SV Colonna, M Daly, EM John, AW Kurian, MB Terry, JL Hopper, MC Southey, KA Phillips, S Li

2026-12-01

Background: The non-breast non-ovarian cancers associated with BRCA1 and BRCA2 pathogenic variants (PVs) are controversial. We aim..

Clarifying risk-factor associations with quantitative breast tumor features: a pooled analysis of 24 studies.

Daniel Adams, Amber N Hurson, Thomas U Ahearn, Irene L Andrulis, Antonis C Antoniou, Päivi Auvinen, Anita Bane, Sabine Behrens, Amy Berrington de Gonzalez, Katarzyna Białkowska, Clara Bodelon, Manjeet K Bolla, Maria Borrero, Hermann Brenner, Ian W Brock, Annegien Broeks, Nicola J Camp, Melissa H Cessna, Stephen J Chanock, Georgia Chenevix-Trench

2026-07-24

BACKGROUND: Breast cancer is etiologically heterogeneous, but which risk factors differ in their associations across tumor subtype..

Deep learning analysis of breast cancer histology predicts ATM pathogenic variant carrier status.

Nicolas M Viart, Lucie Thibault, Tristan Lazard, Séverine Eon-Marchais, Yue Jiao, Laetitia Fuhrmann, Dorothée Le Gal, Eve Cavaciuti, Marie-Gabrielle Dondon, Juana Beauvallet, Marina De Brot, Joanne Ngeow, Soo-Hwang Teo, Maria Isabel Achatz, Elizabeth Santana Dos Santos, Fergus J Couch, Dominique Stoppa-Lyonnet, Melissa C Southey, Anne Vincent-Salomon, Thomas Walter

2026-06-15

We performed deep learning analysis of histopathological whole-slide (full-face) images (WSI) to predict ATM pathogenic or likely ..

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

A Billaud, G Figlioli, C Mooser, I Casamassima, V Azzoni, J Srivatsa, M Colombo, L Caleca, TU Ahearn, IL Andrulis, AC Antoniou, MW Beckmann, S Behrens, M Bermisheva, NV Bogdanova, MK Bolla, B Bonanni, T Brüning, NJ Camp, A Campbell

2026-02-01

The breast cancer risk conferred by germline protein truncating variants (PTVs) in known and putative breast cancer genes has been..

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

M Zanti, DG O’Mahony, MT Parsons, L Dorling, J Dennis, NJ Boddicker, W Chen, C Hu, M Naven, K Yiangou, TU Ahearn, CB Ambrosone, IL Andrulis, AC Antoniou, PL Auer, C Baynes, C Bodelon, NV Bogdanova, SE Bojesen, MK Bolla

2025-12-01

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinic..

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

DR Barnes, JP Tyrer, J Dennis, G Leslie, MK Bolla, M Lush, AM Aeilts, K Aittomäki, N Andrieu, IL Andrulis, H Anton-Culver, A Arason, BK Arun, J Balmaña, EV Bandera, RB Barkardottir, LPV Berger, A Berrington de Gonzalez, P Berthet, K Białkowska

2025-12-01

Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 million variants..

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women

PJ Ho, CKY Loo, RJY Lim, MH Goh, M Abubakar, TU Ahearn, IL Andrulis, NN Antonenkova, KJ Aronson, A Augustinsson, S Behrens, C Bodelon, NV Bogdanova, MK Bolla, KD Brantley, H Brenner, H Byers, NJ Camp, JE Castelao, MH Cessna

2025-11-01

Background: Breast cancer polygenic risk scores (PRS) and traditional risk models (e.g., the Gail model [Gail]) are known to contr..

Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants

RL O'Reilly, P Harraka, J Burke, D Belluoccio, P Yeh, K Howlett, K Behrouzfar, A Rewse, H Tsimiklis, GG Giles, JL Hopper, KJ Bubb, SJ Nicholls, RL Milne, MC Southey

2025-08-01

Targeted gene panel sequencing that measures genomic variation at different depths has potential diagnostic application. A targete..

Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2

KA Phillips, J Kotsopoulos, SM Domchek, MB Terry, JA Chamberlain, JK Bassett, AM Aeilts, IL Andrulis, SS Buys, W Cui, MB Daly, AF Eisen, WD Foulkes, ML Friedlander, J Gronwald, JL Hopper, EM John, BY Karlan, RH Kim, AW Kurian

2025-02-01

PURPOSE It is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline BRCA1 o..

Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk

RJ MacInnis, MA Jenkins, RL Milne, EM John, MB Daly, IL Andrulis, SV Colonna, KA Phillips, K Investigators, LL Le Marchand, PA Newcomb, AI Phipps, SL Schmit, FA Macrae, DD Buchanan, S Gallinger, RK Pai, NJ Samadder, GG Giles, MC Southey

2025-02-01

Menopausal users of hormone replacement therapy (HRT) are at increased breast cancer risk and decreased colorectal cancer (CRC) ri..

Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile

NM Viart, AL Renault, S Eon-Marchais, Y Jiao, L Fuhrmann, SM El Houdigui, D Le Gal, E Cavaciuti, MG Dondon, J Beauvallet, V Raynal, D Stoppa-Lyonnet, A Vincent-Salomon, N Andrieu, MC Southey, F Lesueur

2025-01-01

Background: The ataxia-telangiectasia mutated (ATM) kinase phosphorylates and activates several downstream targets that are essent..

Physical Activity during Adolescence and Early Adulthood and Breast Cancer Risk before Age 40 Years

RD Kehm, JM Genkinger, JA Knight, RJ MacInnis, Y Liao, S Li, PC Weideman, WK Chung, AW Kurian, SV Colonna, IL Andrulis, SS Buys, MB Daly, EM John, JL Hopper, MB Terry

2025-01-01

Background: Breast cancer incidence is increasing in women under age 40, underscoring the need for research on breast cancer risk ..

Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses

S Li, GS Dite, RJ MacInnis, M Bui, TL Nguyen, VFC Esser, Z Ye, JG Dowty, E Makalic, J Sung, GG Giles, MC Southey, JL Hopper

2024-12-01

A polygenic risk score (PRS) combines the associations of multiple genetic variants that could be due to direct causal effects, in..

Germline copy number variants and endometrial cancer risk

CE Stylianou, GAR Wiggins, VL Lau, J Dennis, AN Shelling, M Wilson, P Sykes, F Amant, D Annibali, W De Wispelaere, DF Easton, PA Fasching, DM Glubb, EL Goode, D Lambrechts, PDP Pharoah, RJ Scott, E Tham, I Tomlinson, MK Bolla

2024-12-01

Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of..

Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk

Jasmine A McDonald, Yuyan Liao, Julia A Knight, Esther M John, Allison W Kurian, Mary Daly, Saundra S Buys, Yun Huang, Caren J Frost, Irene L Andrulis, Sarah V Colonna, Michael L Friedlander, John L Hopper, Wendy K Chung, Jeanine M Genkinger, Robert J MacInnis, Mary Beth Terry, Kathleen Cuningham Foundation Consortium investigators

2024-08-01

IMPORTANCE: Few studies have investigated whether the associations between pregnancy-related factors and breast cancer (BC) risk d..

Disentangling the relationships of body mass index and circulating sex hormone concentrations in mammographic density using Mendelian randomization

CB Haas, H Chen, T Harrison, S Fan, M Gago-Dominguez, JE Castelao, MK Bolla, Q Wang, J Dennis, K Michailidou, AM Dunning, DF Easton, AC Antoniou, P Hall, K Czene, IL Andrulis, AM Mulligan, RL Milne, PA Fasching, L Haeberle

2024-07-01

Purpose: Mammographic density phenotypes, adjusted for age and body mass index (BMI), are strong predictors of breast cancer risk...

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

K Kast, EM John, JL Hopper, N Andrieu, C Noguès, E Mouret-Fourme, C Lasset, JP Fricker, P Berthet, V Mari, L Salle, MK Schmidt, MGEM Ausems, EBG Garcia, I van de Beek, MR Wevers, DG Evans, M Tischkowitz, F Lalloo, J Cook

2023-12-01

Introduction: Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It ..

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

H Levi, S Carmi, S Rosset, R Yerushalmi, A Zick, T Yablonski-Peretz, Q Wang, MK Bolla, J Dennis, K Michailidou, M Lush, T Ahearn, IL Andrulis, H Anton-Culver, AC Antoniou, V Arndt, A Augustinsson, P Auvinen, LB Freeman, M Beckmann

2023-12-01

Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC)..

Polymorphisms in genes of melatonin biosynthesis and signaling support the light-at-night hypothesis for breast cancer

Katharina Wichert, Reiner Hoppe, Katja Ickstadt, Thomas Behrens, Stefan Winter, Robert Herold, Claudia Terschueren, Wing-Yee Lo, Pascal Guenel, Therese Truong, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Irene L Andrulis, Hermann Brenner, Jenny Chang-Claude, Angela Cox, Simon S Cross

2023-10-01

Light-at-night triggers the decline of pineal gland melatonin biosynthesis and secretion and is an IARC-classified probable breast..

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Maria Zanti, Denise G O'Mahony, Michael T Parsons, Hongyan Li, Joe Dennis, Kristiina Aittomakkiki, Irene L Andrulis, Hoda Anton-Culver, Kristan J Aronson, Annelie Augustinsson, Heiko Becher, Stig E Bojesen, Manjeet K Bolla, Hermann Brenner, Melissa A Brown, Saundra S Buys, Federico Canzian, Sandrine M Caputo, Jose E Castelao, Jenny Chang-Claude

2023-09-14

A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significan..

A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

Pooja K Middha, Xiaoliang Wang, Sabine Behrens, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Annelie Augustinsson, Thais Baert, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Javier Benitez, Stig E Bojesen

2023-08-09

Background: Genome-wide studies of gene–environment interactions (G×E) may identify variants associated with disease risk in conju..

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

A Morra, MAC Schreurs, IL Andrulis, H Anton-Culver, A Augustinsson, MW Beckmann, S Behrens, SE Bojesen, MK Bolla, H Brauch, A Broeks, SS Buys, NJ Camp, JE Castelao, MH Cessna, J Chang-Claude, WK Chung, KK Sahlberg, AL Børresen-Dale, IT Gram

2023-08-01

Background: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) ..

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

G Figlioli, A Billaud, Q Wang, MK Bolla, J Dennis, M Lush, A Kvist, MA Adank, TU Ahearn, NN Antonenkova, P Auvinen, S Behrens, M Bermisheva, NV Bogdanova, SE Bojesen, B Bonanni, T Brüning, NJ Camp, A Campbell, JE Castelao

2023-07-01

FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described..

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

JMN Lopes Cardozo, IL Andrulis, SE Bojesen, T Dörk, DM Eccles, PA Fasching, MJ Hooning, R Keeman, H Nevanlinna, EJT Rutgers, DF Easton, P Hall, PDP Pharoah, LJ Van 't Veer, MK Schmidt, TU Ahearn, H Anton-Culver, V Arndt, PL Auer, A Augustinsson

2023-04-01

PURPOSEA polygenic risk score (PRS) consisting of 313 common genetic variants (PRS313) is associated with risk of breast cancer an..

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli, Amandine Billaud, Thomas U Ahearn, Natalia N Antonenkova, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Marinus J Blok, Natalia V Bogdanova, Bernardo Bonanni, Barbara Burwinkel, Nicola J Camp, Archie Campbell, Jose E Castelao, Melissa H Cessna, Stephen J Chanock, Kamila Czene, Peter Devilee

2023-01-01

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer ..

Rare germline copy number variants (CNVs) and breast cancer risk

J Dennis, JP Tyrer, LC Walker, K Michailidou, L Dorling, MK Bolla, Q Wang, TU Ahearn, IL Andrulis, H Anton-Culver, NN Antonenkova, V Arndt, KJ Aronson, LEB Freeman, MW Beckmann, S Behrens, J Benitez, M Bermisheva, NV Bogdanova, SE Bojesen

2022-12-01

Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not ..

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

SC Dixon-Suen, SJ Lewis, RM Martin, DR English, T Boyle, GG Giles, K Michailidou, MK Bolla, Q Wang, J Dennis, M Lush, A Investigators, TU Ahearn, CB Ambrosone, IL Andrulis, H Anton-Culver, V Arndt, KJ Aronson, A Augustinsson, P Auvinen

2022-09-06

Objectives Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but..

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

I Grootes, R Keeman, FM Blows, RL Milne, GG Giles, AJ Swerdlow, PA Fasching, M Abubakar, IL Andrulis, H Anton-Culver, MW Beckmann, C Blomqvist, SE Bojesen, MK Bolla, B Bonanni, I Briceno, B Burwinkel, NJ Camp, JE Castelao, JY Choi

2022-09-01

Background: Predict Breast (www.predict.nhs.uk) is an online prognostication and treatment benefit tool for early invasive breast ..

Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations

AM Geczik, JS Ferris, MB Terry, IL Andrulis, SS Buys, MB Daly, JL Hopper, EM John, AW Kurian, MC Southey, Y Liao, JM Genkinger

2022-08-01

Purpose: The American Cancer Society (ACS) published an updated Guideline for Cancer Prevention (ACS Guideline) in 2020. Research ..

Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC)

Z Ye, S Li, GS Dite, TL Nguyen, RJ MacInnis, IL Andrulis, SS Buys, MB Daly, EM John, AW Kurian, JM Genkinger, WK Chung, KA Phillips, H Thorne, IM Winship, RL Milne, PA Dugue, MC Southey, GG Giles, M Beth Terry

2022-03-01

We considered whether weight is more informative than body mass index (BMI) = weight/height2 when predicting breast cancer risk fo..

Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

N Mavaddat, L Dorling, S Carvalho, J Allen, A González-Neira, R Keeman, MK Bolla, J Dennis, Q Wang, TU Ahearn, IL Andrulis, MW Beckmann, S Behrens, J Benitez, M Bermisheva, C Blomqvist, NV Bogdanova, SE Bojesen, I Briceno, T Brüning

2022-01-01

IMPORTANCE Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precis..

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

A Morra, M Escala-Garcia, J Beesley, R Keeman, S Canisius, TU Ahearn, IL Andrulis, H Anton-Culver, V Arndt, PL Auer, A Augustinsson, LE Beane Freeman, H Becher, MW Beckmann, S Behrens, SE Bojesen, MK Bolla, H Brenner, T Brüning, SS Buys

2021-12-01

Background: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival t..

Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk

RD Kehm, RJ MacInnis, EM John, Y Liao, AW Kurian, JM Genkinger, JA Knight, SV Colonna, WK Chung, R Milne, N Zeinomar, GS Dite, MC Southey, GG Giles, SA McLachlan, KD Whitaker, ML Friedlander, PC Weideman, G Glendon, S Nesci

2021-12-01

Background: Recreational physical activity (RPA) is associated with improved survival after breast cancer (BC) in average-risk wom..

Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort

RJ MacInnis, JA Knight, WK Chung, RL Milne, AS Whittemore, R Buchsbaum, Y Liao, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, AW Kurian, IL Andrulis, EM John, MB Daly, SS Buys, KA Phillips, JL Hopper, MB Terry

2021-06-01

Background: Clinical guidelines often use predicted lifetime risk from birth to define criteria for making decisions regarding bre..

Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

A Morra, AY Jung, S Behrens, R Keeman, TU Ahearn, H Anton-Culver, V Arndt, A Augustinsson, PK Auvinen, LE Beane Freeman, H Becher, MW Beckmann, C Blomqvist, SE Bojesen, MK Bolla, H Brenner, I Briceno, SY Brucker, NJ Camp, D Campa

2021-04-01

Background: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subt..

Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk

PM Kapoor, N Mavaddat, PP Choudhury, AN Wilcox, S Lindström, S Behrens, K Michailidou, J Dennis, MK Bolla, Q Wang, A Jung, Z Abu-Ful, T Ahearn, IL Andrulis, H Anton-Culver, V Arndt, KJ Aronson, PL Auer, LEB Freeman, H Becher

2021-03-01

We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for ..

Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

V Silvestri, G Leslie, DR Barnes, BA Agnarsson, K Aittomäki, E Alducci, IL Andrulis, RB Barkardottir, A Barroso, D Barrowdale, J Benitez, B Bonanni, A Borg, SS Buys, T Caldés, MA Caligo, C Capalbo, I Campbell, WK Chung, KBM Claes

2020-08-01

Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the..

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

RD Kehm, JM Genkinger, RJ MacInnis, EM John, KA Phillips, GS Dite, RL Milne, N Zeinomar, Y Liao, JA Knight, MC Southey, WK Chung, GG Giles, SA McLachlan, KD Whitaker, M Friedlander, PC Weideman, G Glendon, S Nesci, K Investigators

2020-01-01

Although physical activity is associated with lower breast cancer risk for average-risk women, it is not known if this association..

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..

Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort

N Zeinomar, KA Phillips, MB Daly, RL Milne, GS Dite, RJ MacInnis, Y Liao, RD Kehm, JA Knight, MC Southey, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, EM John

2019-07-15

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

RD Kehm, JL Hopper, EM John, KA Phillips, RJ MacInnis, GS Dite, RL Milne, Y Liao, N Zeinomar, JA Knight, MC Southey, L Vahdat, N Kornhauser, T Cigler, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon

2019-04-18

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

MB Terry, Y Liao, AS Whittemore, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, EM John

2019-04-01

Background: Independent validation is essential to justify use of models of breast cancer risk prediction and inform decisions abo..

Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk

MB Terry, MB Daly, KA Phillips, X Ma, N Zeinomar, N Leoce, GS Dite, RJ MacInnis, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, PC Weideman, G Glendon, R Buchsbaum, IL Andrulis, EM John, SS Buys

2019-03-01

There remains debate about whether risk-reducing salpingo-oophorectomy (RRSO), which reduces ovarian cancer risk, also reduces bre..

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..

Cost-effectiveness of population-based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 mutation testing in unselected general population women

R Manchanda, S Patel, VS Gordeev, AC Antoniou, S Smith, A Lee, JL Hopper, RJ MacInnis, C Turnbull, SJ Ramus, SA Gayther, PDP Pharoah, U Menon, I Jacobs, R Legood

2018-07-01

Background: The cost-effectiveness of population-based panel testing for high- and moderate-penetrance ovarian cancer (OC)/breast ..

Height and breast cancer risk: Evidence from prospective studies and mendelian randomization

B Zhang, XO Shu, RJ Delahanty, C Zeng, K Michailidou, MK Bolla, Q Wang, J Dennis, W Wen, J Long, C Li, AM Dunning, J Chang-Claude, M Shah, BJ Perkins, K Czene, H Darabi, M Eriksson, SE Bojesen, BG Nordestgaard

2015-11-01

Background: Epidemiological studies have linked adult height with breast cancer risk in women. However, the magnitude of the assoc..

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

FR Day, KS Ruth, DJ Thompson, KL Lunetta, N Pervjakova, DI Chasman, L Stolk, HK Finucane, P Sulem, B Bulik-Sullivan, T Esko, AD Johnson, CE Elks, N Franceschini, C He, E Altmaier, JA Brody, LL Franke, J EHuffman, MF Keller

2015-11-01

Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanis..

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..

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park

2015-02-01

Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficie..

Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

P Peterlongo, J Chang-Claude, KB Moysich, A Rudolph, RK Schmutzler, J Simard, P Soucy, RA Eeles, DF Easton, U Hamann, S Wilkening, B Chen, MA Rookus, MK Schmidt, FH Van Der Baan, AB Spurdle, LC Walker, F Lose, AT Maia, M Montagna

2015-01-01

Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The in..

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

M Jamshidi, R Fagerholm, S Khan, K Aittomäki, K Czene, H Darabi, J Li, IL Andrulis, J Chang-Claude, P Devilee, PA Fasching, K Michailidou, MK Bolla, J Dennis, Q Wang, Q Guo, V Rhenius, S Cornelissen, A Rudolph, JA Knight

2015-01-01

In breast cancer, constitutive activation of NF-κB has been reported, however, the impact of genetic variation of the pathway on p..

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, 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..