Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

Human Mutation

Volumn 31, Issue 5, 2010, Pages 578-587

  Van Der Klift, Heleen M ^a   Tops, Carli M J ^a   Bik, Elsa C ^a   Boogaard, Merel W ^a   Borgstein, Anne Marijke ^a   Hansson, Kerstin B M ^a   Ausems, Margreet G E M ^b   Garcia, Encarna Gomez ^c   Green, Andrew ^d,e   Hes, Frederik J ^a   Izatt, Louise ^f   Van Hest, Liselotte P ^g   Alonso, Angel M ^h   Vriends, Annette H J T ^a   Wagner, Anja ⁱ   Van Zelst Stams, Wendy A G ^c   Vasen, Hans F A ^a   Morreau, Hans ^a   Devilee, Peter ^a   Wijnen, Juul T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d Our Lady's Hospital   (Ireland)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

^f GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h Universidad Pública de Navarra   (Spain)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

HNPCC; Lynch syndrome; PMS2; PMS2CL; Pseudogene

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ALLELE; ARTICLE; CONTROLLED STUDY; FAMILIAL CANCER; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PMS2CL GENE; PRIORITY JOURNAL; PSEUDOGENE; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADENOSINE TRIPHOSPHATASES; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PSEUDOGENES;

EID: 77951835414     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21229     Document Type: Article

References (25)

1. Auclair J, Leroux D, Desseigne F, Lasset C, Saurin JC, Joly MO, Pinson S, Xu XL, Montmain G, Ruano E, Navarro C, Puisieux A, Wang Q. 2007. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. Hum Mutat 28:1084-1090.
2. Batzer MA, Deininger PL. 2002. Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379.
3. Chen JM, Cooper DN, Chuzhanova N, Ferec C, Patrinos GP. 2007. Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet 8:762-775.
4. Clendenning M, de la Chapelle A. 2007. Response to: getting rid of the PMS2 pseudogenes: mission impossible? Hum Mutat 28:415.
5. 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.
6. Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. 2008. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. J Med Genet 45:340-345.
7. 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.
8. Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficek A, Merkelbach-Bruse S, Kratz CP, Attarbaschi A, Hainfellner JA, Yao S, Messiaen L, Slavc I, Wimmer K. 2008. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat 29:299-305.
9. Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. 2005. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1:e56.
10. Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ. 2004. Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36:861-866.
11. Hayward BE, De Vos M, Sheridan E, Bonthron DT. 2004. PMS2 mutations in HNPCC. Clin Genet 66:566-567.
12. 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.
13. 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.
14. Jeske YW, So A, Kelemen L, Sukor N, Willys C, Bulmer B, Gordon RD, Duffy D, Stowasser M. 2008. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. Clin Exp Pharmacol Physiol 35:380-385.
15. Lynch HT, de la Chapelle A. 2003. Hereditary colorectal cancer. N Engl JMed 348:919-932.
16. Lynch HT, Lynch JF, Lynch PM, Attard T. 2008. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer 7:27-39.
17. Manion M, Ni S, Hulce D, Liu CSJ. 2009. DNA mutation and methylation quantification from sanger sequencing traces with mutation surveyor software. Nat Methods Appl Notes September 15 (DOI: 10.1038/an6934).
18. Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM. 2009. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer 48:322-329.
19. Peltomaki P. 2003. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21:1174-1179.
20. 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.
21. Truninger K, Menigatti M, Luz J, Russell A, Haider R, Gebbers JO, Bannwart F, Yurtsever H, Neuweiler J, Riehle HM, Cattaruzza MS, Heinimann K, Schar P, Jiricny J, Marra G. 2005. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 128:1160-1171.
22. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. 2004. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261-268. (Pubitemid 38256271)
23. 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.
24. Vasen HF, Watson P, Mecklin JP, Lynch HT. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456. (Pubitemid 29258894)
25. 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.