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Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.

Familial cancer - 26 Nov 2025

Rowell Blake, Roberts Maegan E, Brock Pamela L, Cooper Julia, Pearlman Rachel, Kalady Matthew F, Culp Stacey, Stanich Peter P, Baker Josie

Abstract excerpt

Genetic testing advancements have improved detection of hereditary polyposis syndromes. Many individuals with unexplained adenomatous polyposis previously underwent limited genetic testing and may benefit from updated testing to identify underlying hereditary polyposis syndromes. We aimed to evaluate the yield of updated testing in adenomatous polyposis cases with previously negative germline genetic testing....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41296145
DOI: 10.1007/s10689-025-00513-4

Genes

APC
ATM
AXIN2
PMS2
RAD51C

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