A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome-Reference-Cited by-同舟云学术

A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

Published:2016-07-12 Issue:1 Volume:14 Page:
ISSN:1897-4287
Container-title:Hereditary Cancer in Clinical Practice
language:en
Short-container-title:Hered Cancer Clin Pract

Author:

Rashid Muhammad U.,Naeemi Humaira,Muhammad Noor,Loya Asif,Yusuf Muhammed A.,Lubiński Jan,Jakubowska Anna,Hamann Ute

Funder

Shaukat Khanum Memorial Cancer Hospital and Research Centre

Deutsches Krebsforschungszentrum

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Oncology

Link

http://link.springer.com/content/pdf/10.1186/s13053-016-0056-3.pdf

Reference44 articles.

1. Apostolou P, Fostira F. Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int. 2013;2013:747318.

2. Jansen M, Menko FH, Brosens LA, Giardiello FM, Offerhaus GJ. Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect? Gastrointest Endosc. 2014;80:1145–55.

3. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676–89.

4. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, la CA D, Peltomaki P, Mecklin JP, Jarvinen HJ. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214–8.

5. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, la CA D. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005;129:415–21.

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