O16: Expanded germline cancer predisposition testing increases diagnostic yield across cancer types

Genetics in Medicine Open 2026 Open access

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Authors: Qiliang Ding, Rhianna M. Urban, Megan Bishop, Megan A. Holdren, Darcy J. Huismann, Carrie A. Lahner, Matthew C. Manninen, Zhiyv Niu, Kevin C. Halling, Katherine B. Geiersbach, Sounak Gupta, Benjamin R. Kipp
+1 more Wei Shen
DOI: 10.1016/j.gimo.2026.104302
Cited by: 0

Abstract

Germline predisposition accounts for about 10-20% of all cancer cases, eg, hereditary breast and ovarian cancer (HBOC) linked to BRCA1/2, and Lynch syndrome associated with mismatch repair (MMR) genes. However, pathogenic variants in additional genes can cause overlapping cancer risks. Expanded germline testing may therefore reveal clinically relevant variants beyond the gene(s) of interest of single-gene testing or limited panels. This study evaluates the diagnostic utility and variant burden of expanded germline testing for hereditary cancer in a cohort of more than 4,000 patients.

Fields of Study & Subjects

BRCA gene mutations in cancer Genetic factors in colorectal cancer Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104302–104302
Publication date
1 January 2026
Language
EN