The frequency of previously undetectable deletions involving 3′ Exons of the PMS2 gene

Genes Chromosomes and Cancer

Volumn 52, Issue 1, 2013, Pages 107-112

  Vaughn, Cecily P ^a   Baker, Christine L ^a   Samowitz, Wade S ^a,b   Swensen, Jeffrey J ^a,b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ALU SEQUENCE; ARTICLE; GENE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENETIC RECOMBINATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PMS2 GENE; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; EXONS; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; NUCLEAR PROTEINS;

EID: 84869866836     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22011     Document Type: Article

References (24)

1. Boland CR. 2005. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 4: 211-218.
2. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. 2002. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62: 848-853.
3. Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Senter L, Sotamaa K, de la Chapelle A. 2006. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 27: 490-495.
4. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74: 954-964.
5. Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E. 2005. Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet Test 9: 138-146.
6. Gylling A, Ridanpaa M, Vierimaa O, Aittomaki K, Avela K, Kaariainen H, Laivuori H, Poyhonen M, Sallinen SL, Wallgren-Pettersson C, Jarvinen HJ, Mecklin JP, Peltomaki P. 2009. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 124: 2333-2340.
7. Hayward BE, De Vos M, Valleley EM, Charlton RS, Taylor GR, Sheridan E, Bonthron DT. 2007. Extensive gene conversion at the PMS2 DNA mismatch repair locus. Hum Mutat 28: 424-430.
8. Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Brocker-Vriends AH, Vasen HF, Wijnen JT. 2006. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130: 312-322.
9. Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K. 2008. Cafe-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. Pediatr Blood Cancer 50: 1268-1270.
10. Johannesma PC, van der Klift HM, van Grieken NC, Troost D, Te Riele H, Jacobs MA, Postma TJ, Heideman DA, Tops CM, Wijnen JT, Menko FH. 2011. Childhood brain tumors due to germline bi-allelic mismatch repair gene mutations. Clin Genet 80: 243-255.
11. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12: 996-1006.
12. Kohany O, Gentles AJ, Hankus L, Jurka J. 2006. Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor. BMC Bioinformatics 7: 474.
13. Kruger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Gorgens H, Boue S, Kolble K, Buttner R, Schackert HK. 2008. Homozygous PMS2 germline mutations in two families with early-onset hematological malignancy, brain tumors, HNPCC-associated tumors, and signs of neurofibromatosis type 1. Eur J Hum Genet 16: 62-72.
14. Leenen CH, Geurts-Giele WR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CM, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WN, Wagner A. 2011. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. Clin Genet 80: 558-565.
15. Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. 2004. 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 64: 4721-4727.
16. Samowitz WS, Holden JA, Curtin K, Edwards SL, Walker AR, Lin HA, Robertson MA, Nichols MF, Gruenthal KM, Lynch BJ, Leppert MF, Slattery ML. 2001. Inverse relationship between microsatellite instability and K-ras and p53 gene alterations in colon cancer. Am J Pathol 158: 1517-1524.
17. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. 2008. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135: 419-428.
18. Shia J. 2008. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 10: 293-300.
19. van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R. 2005. 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 44: 123-138.
20. van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. 2010. Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. Hum Mutat 31: 578-587.
21. Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS. 2010. Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes. Hum Mutat 31: 588-593.
22. Vaughn CP, Hart KJ, Samowitz WS, Swensen JJ. 2011. Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2. Hum Mutat 32: 1063-1071.
23. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, Meijers Heijboer H, Lindhout D, Moller P, Fodde R. 1998. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20: 326-328.
24. Wimmer K, Etzler J. 2008. Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg? Hum Genet 124: 105-122.