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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

Catherine M Phelan
Karoline B Kuchenbaecker
Paul D P Pharoah
Research27 Mar 2017
Nature Genetics

Volume: 49, P: 680-691
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
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes

Integrative analyses of whole-blood gene expression and splicing QTLs with protein, metabolite and lipid QTLs from the same individuals shed light on the shared genetic architecture of molecular traits and health outcomes.

Alex Tokolyi
Elodie Persyn
Dirk S. Paul
ResearchOpen Access04 Mar 2025
Nature Genetics

Volume: 57, P: 616-625
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
Amendments and CorrectionsOpen Access08 Sept 2025
Nature Communications

Volume: 16, P: 1-2
Engineering structural variants to interrogate genome function

Structural variations (SVs) impact gene expression, genome stability and disease susceptibility. This Review discusses recent advances in genome-engineering tools that enable precise SV generation and highlights the challenges that remain.

Jonas Koeppel
Juliane Weller
Leopold Parts
Reviews12 Nov 2024
Nature Genetics

Volume: 56, P: 2623-2635

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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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

The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes

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

Engineering structural variants to interrogate genome function

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