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Breast cancer phenotypes in carriers of pathogenic POT1 variants.

Familial cancer - 10 Jul 2026

Hadar Tal, Abu Shtaya Aasem, Bernstein-Molho Rinat, Eskin-Schwartz Marina, Kedar Inbal, Peretz-Yablonsky Tamar, Shkedi-Rafid Shiri, Yerushalmi Rinat, Zick Aviad, Reznick-Levi Gili, Allweis Tanir, Goldberg Yael

Abstract excerpt

Germline pathogenic variants (PVs) in POT1, one of the shelterin complex genes, correlate with tumor predisposition, primarily with melanoma, hematologic malignancies, sarcoma, papillary thyroid carcinoma and glioma. Breast cancer (BC) risk has not been shown to be elevated. We analyzed BC occurrence and features in a cohort of 29 female PV heterozygotes, of whom 13/29 (45%) were diagnosed with BC. Data regarding...

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Source

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Identifiers

PMID: 42430004
DOI: 10.1007/s10689-026-00589-6
PMCID: PMC13354631

Genes

POT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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