Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

doi:10.1016/j.ajhg.2018.04.013

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Article

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American journal of human genetics - 5 Jul 2018

Whitworth James, Smith Philip S, Martin Jose-Ezequiel, West Hannah, Luchetti Andrea, Rodger Faye, Clark Graeme, Carss Keren, Stephens Jonathan, Stirrups Kathleen, Penkett Chris, Mapeta Rutendo, Ashford Sofie, Megy Karyn, Shakeel Hassan, Ahmed Munaza, Adlard Julian, Barwell Julian, Brewer Carole, Casey Ruth T, Armstrong Ruth, Cole Trevor, Evans Dafydd Gareth, Fostira Florentia, Greenhalgh Lynn, Hanson Helen, Henderson Alex, Hoffman Jonathan, Izatt Louise, Kumar Ajith, Kwong Ava, Lalloo Fiona, Ong Kai Ren, Paterson Joan, Park Soo-Mi, Chen-Shtoyerman Rakefet, Searle Claire, Side Lucy, Skytte Anne-Bine, Snape Katie, Woodward Emma R, Tischkowitz Marc D, Maher Eamonn R

Abstract excerpt

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three...

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Identifiers

PMID: 29909963
DOI: 10.1016/j.ajhg.2018.04.013
PMCID: PMC6037202

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