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

Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.

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Autores principales: Deepak N. Subramanian, Magnus Zethoven, Simone McInerny, James A. Morgan, Simone M. Rowley, Jue Er Amanda Lee, Na Li, Kylie L. Gorringe, Paul A. James, Ian G. Campbell
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/a521a39eb0dc4d439f6807027b6fe81f
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Sumario:Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may account for some of this missing heritability.