Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal-Reference-Cited by-同舟云学术

Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal

Published:2015-10-08 Issue:2 Volume:61 Page:151-156
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Pinto Carla,Pinheiro Manuela,Peixoto Ana,Santos Catarina,Veiga Isabel,Rocha Patrícia,Pinto Pedro,Lopes Paula,Baptista Manuela,Henrique Rui,Teixeira Manuel R

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2015124.pdf

Reference26 articles.

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3. Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P. et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J. Clin. Oncol. 26, 5783–5788 (2008).

4. Lynch, H. T. & de la Chapelle, A. Hereditary colorectal cancer. N. Engl. J. Med. 348, 919–932 (2003).

5. Lynch, H. T., Boland, C. R., Gong, G., Shaw, T. G., Lynch, P. M., Fodde, R. et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur. J. Hum. Genet. 14, 390–402 (2006).

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