scholarly journals Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population

2015 ◽  
Vol 9 (6) ◽  
pp. 2787-2790 ◽  
Author(s):  
FRÉDÉRIC ANCOT ◽  
SUZANNA L. ARCAND ◽  
ANNE-MARIE MES-MASSON ◽  
DIANE M. PROVENCHER ◽  
PATRICIA N. TONIN
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca2 Mutation ◽  
Founder Population ◽  
French Canadian ◽  
Cancer Syndrome ◽  
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.

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

scholarly journals Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers

2016 ◽  
Vol 115 (10) ◽  
pp. 1174-1178 ◽  
Author(s):  
Leendert H Zaaijer ◽  
Helena C van Doorn ◽  
Marian J E Mourits ◽  
Marc van Beurden ◽  
Joanne A de Hullu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca2 Mutation ◽  
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 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

2012 ◽  
Vol 21 (4) ◽  
pp. 645-657 ◽  
Author(s):  
Fergus J. Couch ◽  
Mia M. Gaudet ◽  
Antonis C. Antoniou ◽  
Susan J. Ramus ◽  
Karoline B. Kuchenbaecker ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Ovarian Cancer Risk ◽  
Common Variants ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

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
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