A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review | Zendy

Simon B. Zeichner | Zendy; Naveen Raj | Zendy; Mike Cusnir | Zendy; Michael L. Francavilla | Zendy; Alicia Hirzel | Zendy

Open Access

A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review

Author(s) -

Simon B. Zeichner,

Naveen Raj,

Mike Cusnir,

Michael L. Francavilla,

Alicia Hirzel

Publication year - 2012

Publication title -

clinical medicine insights oncology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.601

H-Index - 26

ISSN - 1179-5549

DOI - 10.4137/cmo.s10178

Subject(s) - familial adenomatous polyposis , adenomatous polyposis coli , germline , germline mutation , genetics , cancer research , mutation , medicine , biology , colorectal cancer , cancer , gene

Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype.6 However, there is considerable variability in the expression of specific phenotypes within families and among individuals with identical mutations.7

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