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

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

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-...

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Veröffentlicht in:Nature communications 2020-04, Vol.11 (1), p.1640-1640, Article 1640
Hauptverfasser: 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.
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Sprache:eng
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45/23
692/308/2056
692/420/2489/68
692/699/67/1517/1709
Adult
Aged
Aged, 80 and over
BRCA1 protein
Chi-square test
Cohort Studies
Cystadenocarcinoma, Serous - genetics
Cystadenocarcinoma, Serous - pathology
Deoxyribonucleic acid
DNA
DNA repair
Enrichment
Exome
Exome Sequencing
Female
Genes
Genetic Heterogeneity
Genetic Predisposition to Disease
Heritability
Heterogeneity
Humanities and Social Sciences
Humans
Loss of Function Mutation
Middle Aged
multidisciplinary
Mutation
Ovarian cancer
Ovarian carcinoma
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Proteins
Science
Science (multidisciplinary)
Statistical tests
Young Adult
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Beschreibung
Zusammenfassung: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 variants in the cases ( p  
ISSN:2041-1723
2041-1723
DOI:10.1038/s41467-020-15461-z