Germline PMS2 mutations: one hit or two? [Gastroenterology. 2005]

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1: Gastroenterology. 2005 May;128(5):1506-9. Links

Comment on:: Gastroenterology. 2005 May;128(5):1160-71.; Gastroenterology. 2005 May;128(5):1431-6.

Germline PMS2 mutations: one hit or two?

PMID: 15887130 [PubMed - indexed for MEDLINE]

PMS2 mutations in HNPCC.
Clin Genet. 2004 Dec; 66(6):566-7; author reply 568.

[Clin Genet. 2004]
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Gastroenterology. 2008 Aug; 135(2):419-28. Epub 2008 May 2.

[Gastroenterology. 2008]
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
Pediatr Blood Cancer. 2008 Jun; 50(6):1268-70.

[Pediatr Blood Cancer. 2008]
ReviewPhenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.
Biochem Soc Trans. 2005 Aug; 33(Pt 4):718-20.

[Biochem Soc Trans. 2005]
ReviewGenetic alteration in hereditary colorectal cancer.
Surg Oncol. 2007 Dec; 16 Suppl 1:S11-5. Epub 2007 Nov 26.

[Surg Oncol. 2007]
» See reviews... | » See all...

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q.
Marinovic-Terzic I, Yoshioka-Yamashita A, Shimodaira H, Avdievich E, Hunton IC, Kolodner RD, Edelmann W, Wang JY. Proc Natl Acad Sci U S A. 2008 Sep 16; 105(37):13993-8. Epub 2008 Sep 3.

[Proc Natl Acad Sci U S A. 2008]
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
Deschênes SM, Tomer G, Nguyen M, Erdeniz N, Juba NC, Sepúlveda N, Pisani JE, Liskay RM. Cancer Lett. 2007 May 8; 249(2):148-56. Epub 2006 Oct 9.

[Cancer Lett. 2007]

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