Nature Search

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

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
ResearchOpen Access07 Sept 2016
Nature Communications

Volume: 7, P: 1-22
PTEN germ-line mutations in juvenile polyposis coli

Sylviane Olschwang
Olga M. Serova-Sinilnikova
Gilbert M Lenoir
Correspondence01 Jan 1998
Nature Genetics

Volume: 18, P: 12-14
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

Fergus J. Couch
Karoline B. Kuchenbaecker
Antonis C. Antoniou
ResearchOpen Access27 Apr 2016
Nature Communications

Volume: 7, P: 1-13
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Stig E Bojesen
Karen A Pooley
Alison M Dunning
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 371-384
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Alison Dunning, Stacey Edwards and colleagues analyze 3,872 common variants across the ESR1 locus in 118,816 women. They find five independent variants within regulatory regions that associate with different breast cancer–related phenotypes and regulate the expression of ESR1, RMND1 and CCDC170.

Alison M Dunning
Kyriaki Michailidou
Stacey L Edwards
Research29 Feb 2016
Nature Genetics

Volume: 48, P: 374-386
Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Georgia Chenevix-Trench and colleagues report meta-analyses of genome-wide association studies identifying six loci newly associated with epithelial ovarian cancer (EOC). They also test variants at the 12 known and 6 new EOC susceptibility loci for association in BRCA1 and BRCA2 mutation carriers.

Karoline B Kuchenbaecker
Susan J Ramus
Georgia Chenevix-Trench
Research12 Jan 2015
Nature Genetics

Volume: 47, P: 164-171
Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

Amandine I Garcia
Monique Buisson
Sylvie Mazoyer
Research20 Jan 2016
European Journal of Human Genetics

Volume: 24, P: 1324-1329
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

Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.

Antonis C Antoniou
Xianshu Wang
Fergus J Couch
Research19 Sept 2010
Nature Genetics

Volume: 42, P: 885-892
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

Nancy Hamel
Bing-Jian Feng
William D Foulkes
Research01 Dec 2010
European Journal of Human Genetics

Volume: 19, P: 300-306
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2

Search

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

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

PTEN germ-line mutations in juvenile polyposis coli

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

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

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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