PMS2 mutations in childhood cancer [7]

Gut

Volumn 54, Issue 12, 2005, Pages 1821-

  Bonthron, D T ^a   Hayward, B E ^a   De Vos, M ^a   Sheridan, E ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

CHILD; CHILDHOOD CANCER; COLORECTAL CARCINOMA; GENE MUTATION; HETEROZYGOSITY; HUMAN; LETTER; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL;

EID: 28144461169     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2005.078816     Document Type: Letter

References (7)

1. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
2. De Vos M, Hayward BE, Picton S, et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004;74:954-64.
3. Parsons R, Li GM, Longley M, et al. Mismatch repair deficiency in phenotypically normal human cells. Science 1995;268:738-40.
4. Nakagawa H, Lockman JC, Frankel WL, et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 2004;64:4721-7.
5. Truninger K, Menigatti M, Luz J, et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 2005;128:1160-71.
6. Worthley DL, Walsh MD, Barker M, et al. Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology 2005;128:1431-6.
7. von der Klift H, Wijnen J, Wagner A, et al. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer 2005;44:123-38.