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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021

Tischkowitz Marc, Balmaña Judith, Foulkes William D, James Paul, Ngeow Joanne, Schmutzler Rita, Voian Nicoleta, Wick Myra J, Stewart Douglas R, Pal Tuya

Abstract excerpt

PURPOSE: PALB2 germline pathogenic variants are associated with increased breast cancer risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health-care professionals managing PALB2 heterozygotes are currently limited. METHODS: A workgroup of experts sought to outline management of PALB2 heterozygotes based on current evidence. Peer-reviewed publications from PubMed were...

Topics

Breast Neoplasms
Fanconi Anemia Complementation Group N Protein
Female
Genetic Predisposition to Disease
Genetics, Medical
Genomics
Germ Cells
Humans
Mastectomy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

United States

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Identifiers

PMID: 33976419
DOI: 10.1038/s41436-021-01151-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).PMID 33976419Read ↗

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