Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 579-585

  Therkildsen, Christina ^a   Isinger Ekstrand, Anna ^a   Ladelund, Steen ^a   Nissen, Anja ^a   Rambech, Eva ^b   Bernstein, Inge ^a   Nilbert, Mef ^a,b  

^a HVIDOVRE HOSPITAL   (Denmark)

^b LUND UNIVERSITY   (Sweden)

Author keywords

Colorectal cancer; Cumulative risk; Endometrial cancer; HNPCC; Mismatch repair; Wnt signaling

Indexed keywords

BETA CATENIN; CYCLIN D1; PROTEIN MLH1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG; UVOMORULIN; WNT PROTEIN;

ADULT; AGED; ARTICLE; CANCER LOCALIZATION; CANCER REGISTRY; CANCER RISK; COLORECTAL CANCER; DENMARK; ENDOMETRIUM CANCER; FEMALE; FOUNDER MUTATION; GENE MUTATION; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK ASSESSMENT; SIGNAL TRANSDUCTION; TISSUE MICROARRAY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DENMARK; ENDOMETRIAL NEOPLASMS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PROGNOSIS; RISK FACTORS; WNT SIGNALING PATHWAY; YOUNG ADULT;

EID: 84870413516     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9552-4     Document Type: Article

References (31)

1. Mukherjee B, Rennert G, Ahn J et al (2011) High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation. Gastroenterology 140(7):1919-1926
2. Raskin L, Schwenter F, Freytsis M et al (2011) Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin Genet 79(6):512-522
3. Clendenning M, Baze ME, Sun S et al (2008) Origins and prevalence of the American founder mutation of MSH2. Cancer Res 68(7):2145-2153 (Pubitemid 351521786)
4. Tomsic J, Liyanarachchi S, Hampel H et al (2012) An American founder mutation in MLH1. Int J Cancer 130(9):2088-2095
5. Chan TL, Chan YW, Ho JW et al (2004) 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 74(5):1035-1042 (Pubitemid 38568973)
6. Alonso-Espinaco V, Giraldez MD, Trujillo C et al (2011) Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med 13(2):155-160
7. Tang R, Hsiung C, Wang JY et al (2009) Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. Clin Genet 75(4):334-345
8. van Riel E, Ausems MG, Hogervorst FB et al (2010) A novel pathogenic MLH1 missense mutation, c.112A[C, p.Asn38His, in six families with Lynch syndrome. Hered Cancer Clin Pract 8(1):7-16
9. Lastella P, Patruno M, Forte G et al (2011) Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. Fam Cancer 10(2):285-295
10. de Leon MP, Benatti P, Di Gregorio C et al (2007) Genotypephenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. Scand J Gastroenterol 42(6):746-753 (Pubitemid 46766544)
11. Borràs E, Pineda M, Blanco I et al (2011) MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 70(19):7379-7391
12. Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomaki P (1996) Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 59(6):1243-1251 (Pubitemid 26394115)
13. Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Gronberg H (2005) Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. Clin Genet 68(6):533-541 (Pubitemid 41748853)
14. Jager AC, Bisgaard ML, Myrhoj T, Bernstein I, Rehfeld JF, Nielsen FC (1997) Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. Am J Hum Genet 61(1):129-138 (Pubitemid 27323332)
15. Vasen HF, Moslein G, Alonso A et al (2007) Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44(6):353-362 (Pubitemid 46953715)
16. Ekstrand AI, Jonsson M, Lindblom A, Borg A, Nilbert M (2010) Frequent alterations of the PI3 K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer. Fam Cancer 9(2): 125-129
17. Barrow E, Robinson L, Alduaij W et al (2009) Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 75(2): 141-149
18. Bonadona V, Bonaiti B, Olschwang S et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305(22):2304-2310
19. Quehenberger F, Vasen HF, van Houwelingen HC (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42(6):491-496 (Pubitemid 40847237)
20. Watson P, Vasen HF, Mecklin JP et al (2008) The risk of extracolonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 123(2):444-449 (Pubitemid 351842032)
21. Kopciuk KA, Choi YH, Parkhomenko E et al (2009) Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models. Hered Cancer Clin Pract 7(1):16-24
22. Schneikert J, Behrens J (2007) The canonical Wnt signalling pathway and its APC partner in colon cancer development. Gut 56(3):417-425 (Pubitemid 46579774)
23. Mirabelli-Primdahl L, Gryfe R, Kim H et al (1999) Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 59(14):3346-3351 (Pubitemid 29334489)
24. Balaz P, Plaschke J, Kruger S, Gorgens H, Schackert HK (2010) TCF-3, 4 protein expression correlates with beta-catenin expression in MSS and MSI-H colorectal cancer from HNPCC patients but not in sporadic colorectal cancers. Int J Colorectal Dis 25(8):931-939
25. Kariola R, Abdel-Rahman WM, Ollikainen M, Butzow R, Peltomaki P, Nystrom M (2005) APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers. Fam Cancer 4(2):187-190 (Pubitemid 40897822)
26. Isinger-Ekstrand A, Therkildsen C, Bernstein I, Nilbert M (2011) Deranged Wnt signaling is frequent in hereditary nonpolyposis colorectal cancer. Fam Cancer 10(2):239-243
27. Dilek FH, Topak N, Tokyol C, Akbulut G, Dilek ON (2010) Beta-catenin and its relation to VEGF and cyclin D1 expression in pT3 rectosigmoid cancers. Turk J Gastroenterol 21(4):365-371
28. Corin I, Larsson L, Bergstrom J, Gustavsson B, Derwinger K (2010) A study of the expression of Cyclin E and its isoforms in tumor and adjacent mucosa, correlated to patient outcome in early colon cancer. Acta Oncol 49(1):63-69
29. Shin KH, Park YJ, Park JG (2001) PTEN gene mutations in colorectal cancers displaying microsatellite instability. Cancer Lett 174(2):189-194 (Pubitemid 33022679)
30. Kim NH, Kim HS, Kim NG et al (2011) p53 and MicroRNA-34 Are Suppressors of Canonical Wnt Signaling. Sci Signal 4(197):ra71
31. Sinicrope FA, Roddey G, Lemoine M et al (1998) Loss of p21WAF1/Cip1 protein expression accompanies progression of sporadic colorectal neoplasms but not hereditary nonpolyposis colorectal cancers. Clin Cancer Res 4(5):1251-1261 (Pubitemid 28213337)