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Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

Breast cancer research and treatment - 1 Dec 2024

Laitman Yael, Niskakoski Anni, Bernstein-Molho Rinal, Koskinen Lotta, Rabina Daniel, Koskenvuo Juha, Friedman Eitan

Abstract excerpt

PURPOSE: While cancer phenotypes in carriers of a single mutant allele in most major cancer susceptibility genes are well-established, there is a paucity of data on the phenotype of carriers of two pathogenic variants-double heterozygotes (DH) or homozygous carriers. Here, we describe the phenotype of carriers of homozygous and DH pathogenic sequence variants (PSVs) in major cancer susceptibility genes. METHODS:...

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Identifiers

PMID: 39102164
DOI: 10.1007/s10549-024-07454-z
PMCID: PMC11522137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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