Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

Clinical Genetics

Volumn 71, Issue 2, 2007, Pages 130-139

  Stella, Alessandro ^a   Surdo, N C ^a   Lastella, P ^a   Barana, D ^b   Oliani, C ^b   Tibiletti, M G ^c   Viel, A ^d   Natale, C ^e   Piepoli, A ^f   Marra, G ^g   Guanti, G ^a  

^a UNIVERSITY OF BARI   (Italy)

^b ULSS 5 Ovest Vicentino   (Italy)

^c OSPEDALE DI CIRCOLO   (Italy)

^d CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^e OORR   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Anticipation; Founder effects; HNPCC; MSH2 deletions

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ADULT; AGED; ARTICLE; CARCINOGENESIS; CLINICAL FEATURE; COLORECTAL CANCER; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GERM LINE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ITALY; MAJOR CLINICAL STUDY; MALE; MUIR TORRE SYNDROME; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYMPTOM;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ANTICIPATION, GENETIC; CHROMOSOMES, HUMAN, PAIR 2; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EXONS; FEMALE; FOUNDER EFFECT; GERM-LINE MUTATION; HUMANS; ITALY; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 33846660736     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00745.x     Document Type: Article

References (33)

1. Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004: 20 (4-5): 269-276.
2. Mangold E, Pagenstecher C, Friedl W et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 2005: 116 (5): 692-702.
3. van 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 (2): 123-138.
4. Gille JJ, Hogervorst FB, Pals G et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 2002: 87 (8): 892-897.
5. Di Fiore F, Charbonnier F, Martin C et al. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 2004: 41 (1): 18-20.
6. Wang Y, Friedl W, Lamberti C et al. Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 2003: 103 (5): 636-641.
7. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA. Hum Mutat 2003: 22 (6): 428-433.
8. Baudhuin LM, Ferber MJ, Winters JL et al. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology 2005: 129 (3): 846-854.
9. Westphalen AA, Russell AM, Buser M et al. Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer. Hum Genet 2005: 116 (6): 461-465.
10. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991: 34 (5): 424-425.
11. Barana D, van der Klift H, Wijnen J et al. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. Am J Med Genet A 2004: 125 (3): 318-319.
12. Truninger K, Menigatti M, Luz J et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 2005: 128 (5): 1160-1171.
13. Boland CR, Thibodeau SN, Hamilton SR et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998: 58 (22): 5248-5257.
14. Chan TL, Chan YW, Ho JW et al. MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am J Hum Genet 2004: 74 (5): 1035-1042.
15. Foulkes WD, Thiffault I, Gruber SB et al. The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002: 71 (6): 1395-1412.
16. Li L, McVety S, Younan R et al. Distinct patterns of germ-line deletions in MLH1 and MSH2: The implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat 2006: 27 (4): 388.
17. Froggatt NJ, Green J, Brassett C et al. A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999: 36 (2): 97-102.
18. Desai DC, Lockman JC, Chadwick RB et al. Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet 2000: 37 (9): 646-652.
19. Wagner A, Barrows A, Wijnen JT et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet 2003: 72 (5): 1088-1100.
20. Thiffault I, Foulkes WD, Marcus VA et al. Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families. Clin Genet 2004: 66 (2): 137-143.
21. Lynch HT, Coronel SM, Okimoto R et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 2004: 291 (6): 718-724.
22. Hsu L, Zhao LP, Malone KE, Daling JR. Assessing changes in ages at onset over successive generation: An application to breast cancer. Genet Epidemiol 2000: 18 (1): 17-32.
23. McFaul CD, Greenhalf W, Earl J et al. European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC); German National Case Collection for Familial Pancreatic Cancer (FaPaCa). Anticipation in familial pancreatic cancer. Gut 2006: 55 (2): 252-258.
24. Trkova M, Hladikova M, Kasal P et al. Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? J Hum Genet 2002: 47 (8): 381-386.
25. Tsai YY, Petersen GM, Booker SV, Bacon JA, Hamilton SR, Giardiello FM. Evidence against genetic anticipation in familial colorectal cancer. Genet Epidemiol 1997: 14 (4): 435-446.
26. Peltomaki P, Gao X, Mecklin JP. Genotype and phenotype in hereditary non polyposis colon cancer: A study of families with different vs. shared predisposing mutations. Fam Cancer 2001: 1 (1): 9-15.
27. Hampel H, Stephens JA, Pukkala E et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset. Gastroenterology 2005: 129 (2): 415-421.
28. Quehenberger F, Vasen HFA, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: Correction for ascertainment. J Med Genet 2005: 42 (6): 491-496.
29. Sia EA, Dominska M, Stefanovic L, Petes TD. Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. Mol Cell Biol 2001: 21 (23): 8157-8167.
30. Marra G, D'Atri S, Corti C et al. Tolerance of human MSH2+/- lymphoblastoid cells to the methylating agent temozolomide. Proc Natl Acad Sci USA 2001: 98 (13): 7164-7169.
31. Alazzouzi H, Domingo E, Gonzalez S et al. Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. Hum Mol Genet 2005: 14 (2): 235-239.
32. Coolbaugh-Murphy MI, Xu J, Ramagli LS, Brown BW, Siciliano MJ. Microsatellite instability (MSI) increases with age in normal somatic cells. Mech Ageing Dev 2005: 126 (10): 1051-1059.
33. Calabrese P, Tsao JL, Yatabe Y et al. Colorectal pretumor progression before and after loss of DNA mismatch repair. Am J Pathol 2004: 164 (4): 1447-1453.