Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome-Reference-Cited by-同舟云学术

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Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome

Published:2016-12-21 Issue:3 Volume:16 Page:357-361
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Mork Maureen E.,Rodriguez Andrea,Taggart Melissa W.,Rodriguez-Bigas Miguel A.,Lynch Patrick M.,Bannon Sarah A.,You Y. Nancy,Vilar Eduardo

Funder

Feinberg Family Fund

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

http://link.springer.com/article/10.1007/s10689-016-9960-y/fulltext.html

Reference12 articles.

1. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76(1):1–18. doi: 10.1111/j.1399-0004.2009.01230.x

2. Moller P, Seppala T, Bernstein I et al (2015) Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. doi: 10.1136/gutjnl-2015-309675

3. You YN, Vilar E (2013) Classifying MMR variants: time for revised nomenclature in Lynch syndrome. Clin Cancer Res 19(9):2280–2282. doi: 10.1158/1078-0432.CCR-13-0392

4. Rodriguez-Soler M, Perez-Carbonell L, Guarinos C et al (2013) Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology 144(5):926–932 e1. doi: 10.1053/j.gastro.2013.01.044 (quiz e13–14)

5. Haraldsdottir S, Hampel H, Tomsic J et al (2014) Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 147(6):1308–1316 e1. doi: 10.1053/j.gastro.2014.08.041

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3. The Largest Chinese Cohort Study Indicates Homologous Recombination Pathway Gene Mutations as Another Major Genetic Risk Factor for Colorectal Cancer with Heterogeneous Clinical Phenotypes;Research;2023-01

4. Lynch syndrome caused by a novel deletion of the promoter and exons 1–13 of MLH1 gene;Cancer Genetics;2022-04

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