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Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

Familial cancer - 1 Oct 2018

West Allison H, Blazer Kathleen R, Stoll Jessica, Jones Matthew, Weipert Caroline M, Nielsen Sarah M, Kupfer Sonia S, Weitzel Jeffrey N, Olopade Olufunmilayo I

Abstract excerpt

Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance...

Topics

Adult
Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Checkpoint Kinase 2
Cross-Sectional Studies
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mastectomy

Middle Aged

Pancreatic Neoplasms

Pedigree

Physicians

Source

Open in PubMed Open full text

Identifiers

PMID: 29445900
DOI: 10.1007/s10689-018-0070-x
PMCID: PMC6092249

Genes

ATM
CHEK2

Provenance

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

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Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.PMID 29445900Read ↗

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