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Article

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Castéra Laurent, Harter Valentin, Muller Etienne, Krieger Sophie, Goardon Nicolas, Ricou Agathe, Rousselin Antoine, Paimparay Germain, Legros Angelina, Bruet Olivia, Quesnelle Céline, Domin Florian, San Chankannira, Brault Baptiste, Fouillet Robin, Abadie Caroline, Béra Odile, Berthet Pascaline, Frébourg Thierry, Vaur Dominique

Abstract excerpt

PURPOSE: Integration of gene panels in the diagnosis of hereditary breast and ovarian cancer (HBOC) requires a careful evaluation of the risk associated with pathogenic or likely pathogenic variants (PVs) detected in each gene. Here we analyzed 34 genes in 5131 suspected HBOC index cases by next-generation sequencing. METHODS: Using the Exome Aggregation Consortium data sets plus 571 individuals from the French...

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Identifiers

PMID: 29988077
DOI: 10.1038/s41436-018-0005-9

Genes

PALB2
BRCA1
BRCA2
BRIP1
ATM
BARD1
CHEK2
MSH6

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