Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis-Reference-Cited by-同舟云学术

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis

Published:2019-01-02 Issue:2 Volume:18 Page:203-209
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Sutcliffe Erin G.^ORCID,Bartenbaker Thompson Amanda,Stettner Amy R.,Marshall Megan L.,Roberts Maegan E.,Susswein Lisa R.,Wang Ying,Klein Rachel T.,Hruska Kathleen S.,Solomon Benjamin D.

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-018-00116-2.pdf

Reference34 articles.

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2. Goodenberger M, Lindor NM (2011) Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol 45:488–500. https://doi.org/10.1097/MCG.0b013e318206489c

3. Farrington SM, Tenesa A, Barnetson R et al (2005) Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 77:112–119. https://doi.org/10.1086/431213

4. Balaguer F, Castellví-Bel S, Castells A et al (2007) Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol Off Clin Pract J Am Gastroenterol Assoc 5:379–387. https://doi.org/10.1016/j.cgh.2006.12.025

5. Morak M, Laner A, Bacher U et al (2010) MUTYH-associated polyposis—variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. Clin Genet 78:353–363. https://doi.org/10.1111/j.1399-0004.2010.01478.x

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