Now showing items 10-29 of 36

• Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers ﻿

(2010-11-29)
Abstract Introduction Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide ...
• Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor positive breast cancer through FGF10 and MRPS30 regulation ﻿

(Elsevier (Cell Press), 2016)
Genome-wide association studies (GWAS) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine-mapping of this locus using data from 104,660 subjects from 50 ...
• Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 ﻿

Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
• Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. ﻿

(2015-12-18)
• Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus ﻿

(Public Library of Science, 2016-08-24)
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
• Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk ﻿

(Oxford Journals, 2014-11-06)
Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or ...
• Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers ﻿

(Public Library of Science, 2016-07-27)
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ mutation ...
• Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer ﻿

(Wiley, 2016)
Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ...
• Five endometrial cancer risk loci identified through genome-wide association analysis ﻿

(Nature Publishing Group, 2016-05-02)
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ...
• Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus ﻿

(Nature Publishing Group, 2016)
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
• Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk ﻿

(Massachusetts Medical Society, 2015-06-04)
Advances in sequencing technology have made multigene testing, or “panel testing,” a practical option when looking for genetic variants that may be associated with a risk of breast cancer. In June 2013, the U.S. Supreme ...
• Genetic modifiers of CHEK2*1100delC-associated breast cancer risk ﻿

(Nature Publishing Group, 2016-10-06)
Purpose: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ...
• Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. ﻿

(Wiley, 2018-05)
Epidemiological, biological and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis ...
• Genetic risk score Mendelian randomization shows obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer ﻿

(American Association for Cancer Research, 2016-08-22)
$\textbf{Background:}$ The strongest known risk factor for endometrial cancer (EC) is obesity. To determine whether single nucleotide polymorphisms (SNPs) associated with increased body mass index (BMI) or waist-hip ratio ...
• Genetic variation in the immunosuppression pathway genes and breast cancer: a pooled analysis of 42,510 cases and 40,577 controls from the Breast ﻿

(Springer, 2015-11-30)
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothesized that genetic variation in the immunosuppression pathway genes may be implicated in ...
• Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent ﻿

(Public Library of Science, 2016-08-23)
$\textbf{Background}$ Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal ...
• Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. ﻿

(NPG, 2015-03-09)
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
• Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk ﻿

(Oxford University Press, 2014-08-28)
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
• Identification of four novel susceptibility loci for estrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome wide significant associations (P<5x10-8) with estrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer ...
• Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ﻿

(Nature Publishing Group, 2016-04-27)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10$^{−8}$) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated ...