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Article

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature communications - 2 Apr 2020

Subramanian Deepak N, Zethoven Magnus, McInerny Simone, Morgan James A, Rowley Simone M, Lee Jue Er Amanda, Li Na, Gorringe Kylie L, James Paul A, Campbell Ian G

Abstract excerpt

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequencing data from 516 BRCA1/2-negative women with HGSOC, focusing on genes enriched with rare, protein-coding loss-of-function (LoF) variants. Overall, there is a significant enrichment of rare protein-coding LoF...

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Aged, 80 and over
Cohort Studies
Cystadenocarcinoma, Serous
Exome
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Heterogeneity

Loss of Function Mutation

Ovarian Neoplasms

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Identifiers

PMID: 32242007
DOI: 10.1038/s41467-020-15461-z
PMCID: PMC7118163

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