Breast Cancer Survival of BRCA1/BRCA2 Mutation Carriers in a Hospital-Based Cohort of Young Women

AbstractBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

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Analysis of plasma proteome from BRCA1/BRCA2 mutation carriers as modifier risk factor of breast cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2010.28.15_suppl.1549 ◽

2010 ◽

Vol 28 (15_suppl) ◽

pp. 1549-1549

Author(s):

A. Custodio ◽

P. Pérez-Segura ◽

J. Zamorano ◽

A. López-Farrã ◽

E. Olivera ◽

...

Keyword(s):

Breast Cancer ◽

Risk Factor ◽

Brca2 Mutation ◽

Plasma Proteome ◽

Mutation Carriers ◽

Brca1 Brca2

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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)

British Journal of Cancer ◽

10.1038/sj.bjc.6605416 ◽

2009 ◽

Vol 101 (12) ◽

pp. 2048-2054 ◽

Cited By ~ 11

Author(s):

A Osorio ◽

◽

R L Milne ◽

G Pita ◽

P Peterlongo ◽

...

Keyword(s):

Breast Cancer ◽

Brca2 Mutation ◽

Brca1 And Brca2 ◽

Mutation Carriers ◽

Risk Modifier ◽

Brca1 Brca2

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Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis

Journal of Huazhong University of Science and Technology [Medical Sciences] ◽

10.1007/s11596-015-1481-7 ◽

2015 ◽

Vol 35 (5) ◽

pp. 629-634 ◽

Cited By ~ 2

Author(s):

Jun Shao ◽

Jie Yang ◽

Jun-nai Wang ◽

Long Qiao ◽

Wei Fan ◽

...

Keyword(s):

Breast Cancer ◽

Systematic Review ◽

Familial Breast Cancer ◽

Cancer Survival ◽

Meta Analysis ◽

Brca2 Mutation ◽

Breast Cancer Survival

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Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer

Annals of Surgical Oncology ◽

10.1245/s10434-016-5328-7 ◽

2016 ◽

Vol 23 (10) ◽

pp. 3232-3238 ◽

Cited By ~ 20

Author(s):

Akiko Chiba ◽

Tanya L. Hoskin ◽

Emily J. Hallberg ◽

Jodie A. Cogswell ◽

Courtney N. Heins ◽

...

Keyword(s):

Breast Cancer ◽

Decision Making ◽

Brca2 Mutation ◽

Genetic Mutation ◽

Surgical Decision ◽

Mutation Carriers ◽

Brca1 Brca2 ◽

Surgical Decision Making

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Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis

The Breast ◽

10.1016/j.breast.2014.10.005 ◽

2014 ◽

Vol 23 (6) ◽

pp. 721-742 ◽

Cited By ~ 36

Author(s):

Esther Molina-Montes ◽

Beatriz Pérez-Nevot ◽

Marina Pollán ◽

Emilio Sánchez-Cantalejo ◽

Jaime Espín ◽

...

Keyword(s):

Breast Cancer ◽

Systematic Review ◽

Contralateral Breast Cancer ◽

Meta Analysis ◽

Brca2 Mutation ◽

Cumulative Risk ◽

Contralateral Breast ◽

Second Primary ◽

Mutation Carriers ◽

Brca1 Brca2

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Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a BRCA1 or BRCA2 Mutation

Journal of Clinical Oncology ◽

10.1200/jco.2012.47.7893 ◽

2013 ◽

Vol 31 (31) ◽

pp. 3914-3919 ◽

Cited By ~ 43

Author(s):

Adriana Valentini ◽

Amy Finch ◽

Jan Lubiński ◽

Tomasz Byrski ◽

Parviz Ghadirian ◽

...

Keyword(s):

Breast Cancer ◽

Young Women ◽

Invasive Breast Cancer ◽

Age Of Onset ◽

Brca2 Mutation ◽

Premenopausal Women ◽

Mutation Carriers ◽

Multicenter Survey ◽

Resumption Of Menses

Purpose To determine the likelihood of long-term amenorrhea after treatment with chemotherapy in women with breast cancer who carry a BRCA1 or BRCA2 mutation. Patients and Methods We conducted a multicenter survey of 1,954 young women with a BRCA1 or BRCA2 mutation who were treated for breast cancer. We included premenopausal women who were diagnosed with invasive breast cancer between 26 and 47 years of age. We determined the age of onset of amenorrhea after breast cancer for women who were and were not treated with chemotherapy, alone or with tamoxifen. We considered chemotherapy-induced amenorrhea to have occurred when the patient experienced ≥ 2 years of amenorrhea, commencing within 2 years of initiating chemotherapy, with no resumption of menses. Results Of the 1,426 women who received chemotherapy, 35% experienced long-term amenorrhea. Of the 528 women who did not receive chemotherapy, 5.3% developed long-term amenorrhea. The probabilities of chemotherapy-induced amenorrhea were 7.2% for women diagnosed before age 30 years, 33% for women age 31 to 44 years, and 79% for women diagnosed after age 45 years (P trend < .001). The probability of induced amenorrhea was higher for women who received tamoxifen than for those who did not (52% v 29%; P < .001). Conclusion Age at treatment and use of tamoxifen are important predictors of chemotherapy-induced amenorrhea in women who carry a BRCA1 or BRCA2 mutation. The risk of induced long-term amenorrhea does not seem to be greater among mutation carriers than among women who do not carry a mutation.

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