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Article

Additional germline findings from a tumor profiling program.

BMC medical genomics - 9 Aug 2018

Stjepanovic Neda, Stockley Tracy L, Bedard Philippe L, McCuaig Jeanna M, Aronson Melyssa, Holter Spring, Semotiuk Kara, Leighl Natasha B, Jang Raymond, Krzyzanowska Monika K, Oza Amit M, Gupta Abha, Elser Christine, Ahmed Lailah, Wang Lisa, Kamel-Reid Suzanne, Siu Lillian L, Kim Raymond H

Abstract excerpt

BACKGROUND: Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for the return of additional germline results, and describe various gMAV scenarios delivered through a clinical genetics service. METHODS: Tumor profiling was offered to 1960 advanced cancer...

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Identifiers

PMID: 30092803
DOI: 10.1186/s12920-018-0383-5
PMCID: PMC6085686

Genes

SMARCB1

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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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