Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.

doi:10.1158/1078-0432.CCR-21-2861

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Article

Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.

Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Jun 2022

Bychkovsky Brittany L, Li Tianyu, Sotelo Jilliane, Tayob Nabihah, Mercado Joanna, Gomy Israel, Chittenden Anu, Kane Sarah, Stokes Samantha, Hughes Melissa E, Kim Ji Seok, Umeton Renato, Awad Mark M, Konstantinopoulos Panagiotis A, Yurgelun Matthew B, Wolpin Brian M, Taplin Mary-Ellen, Newmark Randall E, Johnson Bruce E, Lindeman Neal I, MacConaill Laura E, Garber Judy E, Lin Nancy U

Abstract excerpt

PURPOSE: Tumor-only genomic testing can uncover somatic and germline pathogenic variants [pathogenic/likely pathogenic (P/LP)] in cancer predisposition genes. We describe the prevalence of P/LPs in BRCA1/2 and PALB2 (B1B2P2) across malignancies and the frequency of clinical germline testing (CGT) in patients with P/LPs in B1B2P2 identified on tumor-only testing. EXPERIMENTAL DESIGN: Among 7,575 patients with...

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PMID: 35363308
DOI: 10.1158/1078-0432.CCR-21-2861
PMCID: PMC9167798

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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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