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

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

PP38 Proteomic analysis of plasma from BRCA1/BRCA2 mutation carriers as modifier risk factor of breast cancer

2009 ◽  
Vol 7 (4) ◽  
pp. 15
Author(s):  
A.B. Custodio ◽  
P. Pérez-Segura ◽  
J.J. Zamorano ◽  
A.J. López-Farré ◽  
E. Olivera ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Proteomic Analysis ◽  
Brca2 Mutation ◽  
Mutation Carriers ◽  
Brca1 Brca2

scholarly journals A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Juliette Coignard ◽  
◽  
Michael Lush ◽  
Jonathan Beesley ◽  
Tracy A. O’Mara ◽  
...  
Keyword(s):  
Breast Cancer ◽  
General Population ◽  
Genome Wide Association Study ◽  
Brca2 Mutation ◽  
Risk Scores ◽  
Genetic Modifiers ◽  
Mutation Carriers ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Brca1 Brca2

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.

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

2016 ◽  
Vol 23 (10) ◽  
pp. 3232-3238 ◽  
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

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 ◽  
2014 ◽  
Vol 23 (6) ◽  
pp. 721-742 ◽  
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

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

2017 ◽  
Vol 109 (8) ◽  
Author(s):  
Marjanka K. Schmidt ◽  
Alexandra J. van den Broek ◽  
Rob A. E. M. Tollenaar ◽  
Vincent T. H. B. M. Smit ◽  
Pieter J. Westenend ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Cancer Survival ◽  
Brca2 Mutation ◽  
Breast Cancer Survival ◽  
Mutation Carriers ◽  
Brca1 Brca2

scholarly journals Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study

2015 ◽  
Vol 185 (1) ◽  
pp. 189-194 ◽  
Author(s):  
E. M. Walsh ◽  
M. P. Farrell ◽  
C. Nolan ◽  
F. Gallagher ◽  
R. Clarke ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Detection ◽  
Brca2 Mutation ◽  
Population Based ◽  
Breast Cancer Detection ◽  
Population Based Study ◽  
Mutation Carriers ◽  
Brca1 Brca2

scholarly journals Characteristics of breast cancer in BRCA1/BRCA2 mutation carriers and non-carriersfrom a genetic counseling unit in Croatia

2020 ◽  
Vol 48 (2-3) ◽  
pp. 54-60
Author(s):  
Snježana Ramić ◽  
◽  
Gabriela Alfier ◽  
Iva Kirac ◽  
Ivan Milas ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Brca2 Mutation ◽  
Significant Risk ◽  
Brca2 Gene ◽  
Cancer Risk Assessment ◽  
Luminal B ◽  
Mutation Carriers ◽  
Breast Cancer Risk Assessment ◽  
Brca1 Brca2

Breast cancer (BC) represents 25% of all malignancies in Croatian women, and in 18.8% of cases, it is diagnosed before the age of 50. Croatia launched BRCA testing of people at increased family risk. Hereditary BC is mainly caused by a pathogenic mutation in the BRCA1 or BRCA2 gene and is a significant risk factor for developing breast and ovarian cancer. The present study included 127 women diagnosed with BC, with a strong family history of BC and the known status of the germline mutations in the BRCA1/BRCA2 genes. The majority of women were BRCA1/2 mutation non-carriers, while 15.7% were BRCA1/2 mutation carriers, and 4% had a variant of unknown significance (VUS). BRCA1/2 mutation carriers were younger than non-carriers (median 38.5 years vs. 44 years) (P=.01) and had tumors of higher histological grade (P<.001). The intrinsic subtype of BC differs significantly depending on the type of mutation (P<.001). Triple-negative BC prevailed (87.5%) in BRCA1 mutation carriers, and 12.5% had a luminal B/HER2-negative BC. Four patients were BRCA2 mutation carriers, and two of them had luminal B/HER2-positive BC. Most BRCA1/2 non-carriers (69.2%) and all VUS-carriers have luminal B/HER2-negative BC. Our results show that BRCA1/2 mutation testing is essential for women with a family history burden. It is a piece of valuable information in breast cancer risk assessment and contributes to early diagnosis.

Effect of pregnancy as a risk factor for breast cancer inBRCA1/BRCA2 mutation carriers

2005 ◽  
Vol 117 (6) ◽  
pp. 988-991 ◽  
Author(s):  
Carey A. Cullinane ◽  
Jan Lubinski ◽  
Susan L. Neuhausen ◽  
Parviz Ghadirian ◽  
Henry T. Lynch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Brca2 Mutation ◽  
Mutation Carriers
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