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Article

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2014

Shirts Brian H, Jacobson Angela, Jarvik Gail P, Browning Brian L

Abstract excerpt

PURPOSE: Up to half of unique genetic variants in genomic evaluations of familial cancer risk will be rare variants of uncertain significance. Classification of rare variants will be an ongoing issue as genomic testing becomes more common. METHODS: We modified standard power calculations to explore sample sizes necessary to classify and estimate relative disease risk for rare variant frequencies (0.001-0.00001)...

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Identifiers

PMID: 24357849
DOI: 10.1038/gim.2013.187
PMCID: PMC4063879

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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