Search Results - "Barrowdale, D"
-
1
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease
Published in British journal of cancer (18-03-2014)“…Background: Prostate cancer (PrCa) is one of the most common diseases to affect men worldwide and among the leading causes of cancer-related death. The purpose…”
Get full text
Journal Article -
2
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
Published in Nature genetics (01-10-2010)“…Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193…”
Get full text
Journal Article -
3
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Published in Breast cancer research : BCR (25-04-2015)“…Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA…”
Get full text
Journal Article -
4
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Published in Human mutation (01-04-2012)“…Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome‐wide association study (GWAS) identified six…”
Get full text
Journal Article -
5
Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer
Published in British journal of cancer (25-06-2013)“…Background: Pedigrees with multiple genotyped family members have been underutilised in breast cancer (BC) genetic-association studies. We developed a…”
Get full text
Journal Article -
6
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Published in Nature genetics (01-06-2020)“…Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype 1 – 3 . To identify novel loci, we performed a genome-wide…”
Get full text
Journal Article -
7
Breast-Cancer Risk in Families with Mutations in PALB2
Published in The New England journal of medicine (07-08-2014)“…A multinational study of 154 families with PALB2 mutations shows that mutation carriers have a 14% risk of breast cancer by 50 years of age and a 35% risk by…”
Get full text
Journal Article -
8
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Published in Human mutation (01-05-2018)“…The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in…”
Get full text
Journal Article -
9
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Published in Cancer epidemiology, biomarkers & prevention (01-01-2012)“…Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should…”
Get full text
Journal Article -
10
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Published in PLoS genetics (2013)“…BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a…”
Get full text
Journal Article -
11
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Published in JNCI : Journal of the National Cancer Institute (01-01-2022)“…Abstract Background Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the…”
Get full text
Journal Article -
12
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
Published in Breast cancer research : BCR (16-01-2020)“…The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have…”
Get full text
Journal Article -
13
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Published in Cancer research (Chicago, Ill.) (01-02-2020)“…Pathogenic sequence variants (PSV) in or ( ) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in were associated…”
Get full text
Journal Article -
14
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
Published in Breast cancer research : BCR (09-02-2016)“…BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the…”
Get full text
Journal Article -
15
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium
Published in Cancer epidemiology, biomarkers & prevention (01-02-2020)“…Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very…”
Get full text
Journal Article -
16
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Published in Genetics in medicine (01-09-2021)“…Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS 313 ) and contralateral…”
Get full text
Journal Article -
17
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Published in JNCI : Journal of the National Cancer Institute (01-04-2019)“…BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies…”
Get full text
Journal Article -
18
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Published in Breast cancer research : BCR (01-01-2014)“…The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no…”
Get full text
Journal Article -
19
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
Published in PLoS genetics (01-03-2013)“…Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through…”
Get full text
Journal Article -
20
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Published in British journal of cancer (16-07-2019)“…Background Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among…”
Get full text
Journal Article