Utilizing microsatellite instability and immunohistochemistry to clinically interpret a novel germline mismatch repair mutation of uncertain significance

From: 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Dallas, TX, USA 12-13 October 2010 Author details1-Cancer Genetics Program, William Beaumont Hospital, Royal Oak, Michigan, USAEMPTY Supplemental Information: Materials and methods/results Family X pr...

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Bibliographic Details
Published inHereditary cancer in clinical practice Vol. 9; no. Suppl 1; p. P9
Main Authors Ducaine, Whitney L, Dohany, Lindsay, Zekman, Richard, Zakalik, Dana
Format Journal Article
LanguageEnglish
Published London BioMed Central 01.01.2011
Subjects
Cancer
Meetings
Mutation
Poster Presentation
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Summary:From: 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Dallas, TX, USA 12-13 October 2010 Author details1-Cancer Genetics Program, William Beaumont Hospital, Royal Oak, Michigan, USAEMPTY Supplemental Information: Materials and methods/results Family X presented to our cancer genetics clinic with a previously identified MSH2 MMR gene variant of uncertain significance, 1227del12, detected in Sib 1, who was diagnosed with synchronous colon cancers at age 53.
ISSN:1897-4287
1731-2302
1897-4287
DOI:10.1186/1897-4287-9-S1-P9