CDH1 pathogenic variants and cancer risk in an unselected patient population.

doi:10.1007/s10689-021-00257-x

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Article

CDH1 pathogenic variants and cancer risk in an unselected patient population.

Familial cancer - 1 Apr 2022

Bar-Mashiah Ariel, Soper Emily R, Cullina Sinead, Belbin Gillian M, Kenny Eimear E, Lucas Aimee L, Abul-Husn Noura S

Abstract excerpt

CDH1 pathogenic variants confer a markedly elevated lifetime risk of developing diffuse gastric cancer (DGC) and lobular breast cancer (LBC). The aim of this study was to evaluate the prevalence and clinical impact of CDH1 pathogenic variants in the unselected and ancestrally diverse BioMe Biobank. We evaluated exome sequence data from 30,223 adult BioMe participants to identify CDH1 positive individuals, defined...

Topics

Adult
Antigens, CD
Cadherins
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Male
Middle Aged
Risk
Stomach Neoplasms
Exome Sequencing

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Identifiers

PMID: 33886068
DOI: 10.1007/s10689-021-00257-x
PMCID: PMC8531152

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