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 Breast Cancer Detection Among Irish BRCA1 & BRCA2 Mutation Carriers

2012 ◽  
Vol 23 ◽  
pp. ix469-ix470
Author(s):  
E. Walsh ◽  
M. Farrell ◽  
R. Clarke ◽  
C. Nolan ◽  
M.J. Kennedy ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Detection ◽  
Brca2 Mutation ◽  
Breast Cancer Detection ◽  
Mutation Carriers ◽  
Brca1 Brca2

BRCA1/BRCA2 mutation profile and phenotypic features of male breast cancer: a population-based study in Italy

2008 ◽  
Vol 6 (9) ◽  
pp. 42
Author(s):  
P. Rizzolo ◽  
M. Falchetti ◽  
R. Lupi ◽  
K. Ceccarelli ◽  
V. Silvestri ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Brca2 Mutation ◽  
Population Based ◽  
Male Breast ◽  
Population Based Study ◽  
Mutation Profile ◽  
Phenotypic Features ◽  
Brca1 Brca2

scholarly journals Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers

2017 ◽  
Vol 163 (3) ◽  
pp. 565-571 ◽  
Author(s):  
Julia Krammer ◽  
Katja Pinker-Domenig ◽  
Mark E. Robson ◽  
Mithat Gönen ◽  
Blanca Bernard-Davila ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Detection ◽  
Brca2 Mutation ◽  
Breast Cancer Detection ◽  
Tumor Characteristics ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

scholarly journals Influence of tumour stage at breast cancer detection on survival in modern times: population based study in 173 797 patients

BMJ ◽  
2015 ◽  
pp. h4901 ◽  
Author(s):  
Sepideh Saadatmand ◽  
Reini Bretveld ◽  
Sabine Siesling ◽  
Madeleine M A Tilanus-Linthorst
Keyword(s):  
Breast Cancer ◽  
Cancer Detection ◽  
Population Based ◽  
Breast Cancer Detection ◽  
Tumour Stage ◽  
Population Based Study ◽  
Modern Times

scholarly journals Population-Based Study of the Risk of Second Primary Contralateral Breast Cancer Associated With Carrying a Mutation in BRCA1 or BRCA2

2010 ◽  
Vol 28 (14) ◽  
pp. 2404-2410 ◽  
Author(s):  
Kathleen E. Malone ◽  
Colin B. Begg ◽  
Robert W. Haile ◽  
Ake Borg ◽  
Patrick Concannon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Invasive Breast Cancer ◽  
Contralateral Breast Cancer ◽  
Brca2 Mutation ◽  
Population Based ◽  
Contralateral Breast ◽  
Mutation Carriers ◽  
Brca2 Mutations ◽  
Brca1 Brca2 ◽  
Cumulative Risks

Purpose Women with breast cancer diagnosed early in life comprise a substantial portion of those tested for BRCA1/BRCA2 mutations; however, little information is available on the subsequent risks of contralateral breast cancer in mutation carriers. This study assessed the risk of subsequent contralateral breast cancer associated with carrying a BRCA1 or BRCA2 mutation. Patients and Methods In this nested case-control study, patients with contralateral breast cancer diagnosed 1 year or more after a first primary breast cancer (n = 705) and controls with unilateral breast cancer (n = 1,398) were ascertained from an underlying population-based cohort of 52,536 women diagnosed with a first invasive breast cancer before age 55 years. Interviews and medical record reviews were used to collect risk factor and treatment histories. All women were tested for BRCA1/BRCA2 mutations. Relative (rate ratios) and absolute (5- and 10-year cumulative) risks of developing contralateral breast cancer following a first invasive breast cancer were computed. Results Compared with noncarriers, BRCA1 and BRCA2 mutation carriers had 4.5-fold (95% CI, 2.8- to 7.1-fold) and 3.4-fold (95% CI, 2.0- to 5.8-fold) increased risks of contralateral breast cancer, respectively. The relative risk of contralateral breast cancer for BRCA1 mutation carriers increased as age of first diagnosis decreased. Age-specific cumulative risks are provided for clinical guidance. Conclusion The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation. These findings have important clinical relevance regarding the assessment of BRCA1/BRCA2 status in patients with breast cancer and the counseling and clinical management of patients found to carry a mutation.

scholarly journals Population-Based Study of Changing Breast Cancer Risk in Icelandic BRCA2 Mutation Carriers, 1920–2000

2006 ◽  
Vol 98 (2) ◽  
pp. 116-122 ◽  
Author(s):  
Laufey Tryggvadottir ◽  
Helgi Sigvaldason ◽  
Gudridur H. Olafsdottir ◽  
Jon G. Jonasson ◽  
Thorvaldur Jonsson ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Population Based ◽  
Population Based Study ◽  
Mutation Carriers

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.

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