Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

doi:10.1038/gim.2015.166

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Article

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2016

Susswein Lisa R, Marshall Megan L, Nusbaum Rachel, Vogel Postula Kristen J, Weissman Scott M, Yackowski Lauren, Vaccari Erica M, Bissonnette Jeffrey, Booker Jessica K, Cremona M Laura, Gibellini Federica, Murphy Patricia D, Pineda-Alvarez Daniel E, Pollevick Guido D, Xu Zhixiong, Richard Gabi, Bale Sherri, Klein Rachel T, Hruska Kathleen S, Chung Wendy K

Abstract excerpt

PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as well as more recently identified cancer genes (e.g., PALB2, BRIP1), many of which have increased but less well-defined penetrance. METHODS: Clinical...

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Identifiers

PMID: 26681312
DOI: 10.1038/gim.2015.166
PMCID: PMC4985612

Genes

BRCA1
BRIP1
MLH1
MSH2
PALB2

Provenance

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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