The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome-Reference-Cited by-同舟云学术

The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome

Published:2019-03-18 Issue:5 Volume:49 Page:477-480
ISSN:1465-3621
Container-title:Japanese Journal of Clinical Oncology
language:en
Short-container-title:

Author:

Ito Tetsuya¹,Yamaguchi Tatsuro²^ORCID,Wakatsuki Tomokazu³,Suzuki Tsuyoshi¹,Eguchi Hidetaka⁴,Okazaki Yasushi⁴,Yamamoto Gou³,Tachikawa Tetsuhiko³,Kawakami Satoru⁵,Sasaki Astushi⁶,Akagi Kiwamu³,Ishida Hideyuki¹

Affiliation:

1. Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan

2. Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan

3. Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan

4. Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine, Tokyo, Japan

5. Department of Urology, Saitama Medical Center, Saitama Medical University, Saitama, Japan

6. Department of Pathology, Saitama Medical University, Moroyama, Saitama, Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Saitama Medical University Research Center

Publisher

Oxford University Press (OUP)

Subject

Cancer Research,Radiology, Nuclear Medicine and imaging,Oncology,General Medicine

Link

http://academic.oup.com/jjco/article-pdf/49/5/477/28543953/hyz031.pdf

Reference14 articles.

1. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer);Hampel;N Engl J Med,2005

2. Update on Lynch syndrome genomics;Peltomäki;Fam Cancer,2016

3. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database;Thompson;Nat Genet,2014

4. Assessment of the InSiGHT interpretation criteria for the clinical classification of 24 MLH1 and MSH2 gene variants;Tricarico;Hum Mutat,2017

5. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability;Umar;J Natl Cancer Inst,2004

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