Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2-Reference-Cited by-同舟云学术

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Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2

Published:2008-09-10 Issue:2 Volume:17 Page:159-164
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kets Carolien M,Hoogerbrugge Nicoline,van Krieken Joannes H J M,Goossens Monique,Brunner Han G,Ligtenberg Marjolijn J L

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008153.pdf

Reference25 articles.

1. Lynch HT, de la Chapelle A : Hereditary colorectal cancer. N Engl J Med 2003; 348: 919–932.

2. Felton K, Gilchrist D, Andrew S : Constitutive deficiency in DNA mismatch repair. Clin Genet 2007; 71: 483–498.

3. Bougeard G, Charbonnier F, Moerman A et al: Early onset brain tumor and lymphoma in MSH2-deficient children. Am J Hum Genet 2003; 72: 213–216.

4. De Rosa M, Fasano C, Panariello L et al: Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 2000; 19: 1719–1723.

5. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT : Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004; 74: 954–964.

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5. Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk;The American Journal of Human Genetics;2021-01

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