Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients

International Journal of Colorectal Disease

Volumn 29, Issue 2, 2014, Pages 261-262

  Zahary, Mohd Nizam ^a   Kaur, Gurjeet ^b   Hassan, Muhammad Radzi Abu ^c   Sidek, Ahmad Shanwani Mohd ^d   Singh, Harjinder ^e   Yeh, Lee Yeong ^a   Ankathil, Ravindran ^a  

^a SCHOOL OF MEDICAL SCIENCES   (Malaysia)

^b INSTITUTE FOR RESEARCH IN MOLECULAR MEDICINE INFORMM   (Malaysia)

^c Hospital Sultanah Bahiyah   (Malaysia)

^d HOSPITAL RAJA PEREMPUAN ZAINAB II   (Malaysia)

^e Queen Elizabeth Hospital   (Malaysia)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH6;

CANCER DIAGNOSIS; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LETTER; MALAYSIA; MISMATCH REPAIR; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADENOSINE TRIPHOSPHATASES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GERM-LINE MUTATION; HUMANS; MALAYSIA;

EID: 84893334227     PISSN: 01791958     EISSN: 14321262     Source Type: Journal    
DOI: 10.1007/s00384-013-1770-1     Document Type: Letter

References (4)

1. Zahary MN, Kaur G, Abu Hassan MR, et al. (2012) Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients. World J Gastroenterol 18:814-820
2. Marinovic-Terzic I, Yoshioka-Yamashita A, Shimodaira H, et al. (2008) Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q. Proc Natl Acad Sci U S A 105:13993-13998
3. Wu Y, Berends MJW, Mensink RGJ, et al. (1999) Association of hereditary non-polyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 65:1291-1298
4. Niessen RC, Kleibeuker JH, Westers H, et al. (2009) PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosome Cancer 48:322-329