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Article

Gonadal mosaicism and familial adenomatous polyposis.

Familial cancer - 1 Jan 2008

Schwab Angela L, Tuohy Thérèse M F, Condie Michelle, Neklason Deborah W, Burt Randall W

Abstract excerpt

De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X)...

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Source

Identifiers

PMID: 18026870
DOI: 10.1007/s10689-007-9169-1

Genes

APC
FAP

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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