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Article

Interpretation of constitutional cancer predisposition gene variants in 14 765 individuals in the 100 000 Genomes Project cancer arm: a retrospective cohort analysis.

The Lancet. Oncology - 1 Apr 2026

Whitworth James, Wang Valerie Yawen, Black Daniella, Davies Helen Ruth, Degasperi Andrea, Prepelita Diana, Nik-Zainal Serena

Abstract excerpt

BACKGROUND: Cancer predisposition due to constitutional (germline) genetic variants in high-risk or moderate-risk cancer predisposition genes presents clinical opportunities for risk mitigation. Focusing genetic testing only on patients who are most likely to be positive for germline variants might enhance the clinical utility of positive results, but this approach could fail to assess the rate and pattern of...

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Identifiers

PMID: 41926963
DOI: 10.1016/S1470-2045(25)00766-1

Genes

BRCA2
CHEK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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