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Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.

Breast cancer research and treatment - 1 Feb 2021

Shani Hagit, Bernstein-Molho Rinat, Laitman Yael, Netzer Iris, Friedman Eitan

Abstract excerpt

PURPOSE: The co-occurrence or double heterozygosity of pathogenic/likely pathogenic sequence variants (P/LPSVs) in major cancer susceptibility genes has rarely been reported. Such co-occurrence raises the issues of accurate genetic counseling, preferred recommended surveillance scheme, and the use of preimplantation genetic diagnosis (PGD). METHODS: A clinical report of an Ashkenazi Jewish (AJ) family with co...

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PMID: 33449224
DOI: 10.1007/s10549-020-06084-5

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