An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

doi:10.1002/humu.23375

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An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

Human mutation - 1 Mar 2018

Ellison Gillian, Ahdesmäki Miika, Luke Sally, Waring Paul M, Wallace Andrew, Wright Ronnie, Röthlisberger Benno, Ludin Katja, Merkelbach-Bruse Sabine, Heydt Carina, Ligtenberg Marjolijn J L, Mensenkamp Arjen R, de Castro David Gonzalez, Jones Thomas, Vivancos Ana, Kondrashova Olga, Pauwels Patrick, Weyn Christine, Hahnen Eric, Hauke Jan, Soong Richie, Lai Zhongwu, Dougherty Brian, Carr T Hedley, Johnson Justin, Mills John, Barrett J Carl

Abstract excerpt

Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than germline testing as the majority of samples are formalin-fixed paraffin embedded (FFPE), the tumor genome is complex, and the allelic fraction of somatic variants can be low. We collaborated with 10 laboratories testing...

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PMID: 29215764
DOI: 10.1002/humu.23375
PMCID: PMC5838520

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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