Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: Case-series and literature review

Familial Cancer

Volumn 12, Issue 1, 2013, Pages 43-50

  Knopperts, A P ^a   Nielsen, M ^b   Niessen, R C ^a   Tops, C M J ^b   Jorritsma, B ^b   Varkevisser, J ^b   Wijnen, J ^b   Siezen, C L E ^c   Heine Broring R C ^c   Van Kranen, H J ^d   Vos, Y J ^a   Westers, H ^a   Kampman, E ^c   Sijmons, R H ^a   Hes, F J ^b  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c WAGENINGEN UNIVERSITY   (Netherlands)

^d NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

Author keywords

Adenomatous polyps; Bethesda criteria; Colorectal cancer; Familial; MUTYH; Young age

Indexed keywords

DNA GLYCOSYLASE MUTY;

ADENOMATOUS POLYP; ADULT; CANCER RISK; CASE CONTROL STUDY; ENDOSCOPY; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HEREDITARY COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

ADENOMATOUS POLYPS; ADULT; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA GLYCOSYLASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; YOUNG ADULT;

EID: 84873409763     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9570-2     Document Type: Review

References (31)

1. Integraal Kankercentrum Zuid. Available at: http://www.ikz.nl/page.php? id=114. Accessed 30 May 2012
2. Lovett E (1976) Family studies in cancer of the colon and rectum. Br J Surg 63(1):13-18
3. Stephenson BM, Finan PJ, Gascoyne J, Garbett F, Murday VA, Bishop DT (1991) Frequency of familial colorectal cancer. Br J Surg 78(10):1162-1166
4. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P et al (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26(35):5783-5788
5. Farrington SM, Tenesa A, Barnetson R, Wiltshire A, Prendergast J, Porteous M et al (2005) Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 77(1):112-119
6. Cleary SP, Cotterchio M, Jenkins MA, Kim H, Bristow R, Green R et al (2009) Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136(4):1251-1260
7. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P et al (1998) Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 338(21):1481-1487
8. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261-268
9. Lynch HT, Lynch JF (2005) What the physician needs to know about Lynch syndrome: an update. Oncology (Williston Park) 19(4):455-463 discussion 463-4, 466, 469
10. Nielsen M, Morreau H, Vasen HFA, Hes FJ (2011) MUTYH-associated polyposis (MAP). Crit Rev Oncol 79(1):1
11. Ashton KA, Meldrum CJ, McPhillips ML, Kairupan CF, Scott RJ (2005) Frequency of the common MYH mutations (G382D and Y165C) in MMR mutation positive and negative HNPCC patients. Hered Cancer Clin Pract 3(2):65-70
12. Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J (2011) MUTYH hotspot mutations in unselected colonoscopy patients. Colorectal Dis. doi: 10.1111/j.1463-1318.2011.02920.x
13. Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M et al (2004) Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 96(21):1631-1634
14. Giraldez MD, Balaguer F, Bujanda L, Cuatrecasas M, Munoz J, Alonso-Espinaco V et al (2010) MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. Clin Cancer Res 16(22):5402-5413
15. Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P (2011) Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in southern Brazil. Int J Colorectal Dis 26(7):841-846
16. Riegert-Johnson DL, Johnson RA, Rabe KG, Wang L, Thomas B, Baudhuin LM et al (2007) The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test 11(4):361-365
17. Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC et al (2004) MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127(1):9-16
18. Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM et al (2002) Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet 70(1):26-37
19. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW et al (1998) 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 58(22):5248-5257
20. Niessen RC, Berends MJ, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJ et al (2006) Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. Gut 55(12):1781-1788
21. Tiemersma EW, Wark PA, Ocke MC, Bunschoten A, Otten MH, Kok FJ et al (2003) Alcohol consumption, alcohol dehydrogenase 3 polymorphism, and colorectal adenomas. Cancer Epidemiol Biomark Prev 12(5):419-425
22. Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H et al (2005) Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 42(9):e54
23. van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Bruggenwirth H et al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27(7):654-666
24. Pyrosquencing - geneticanalysis for clinical research. Available at: http://www.pyrosequencing.com/DynPage.aspx?id=6910&mn1=1408. Accessed 31 May 2012
25. Siezen CL, van Leeuwen AI, Kram NR, Luken ME, van Kranen HJ, Kampman E (2005) Colorectal adenoma risk is modified by the interplay between polymorphisms in arachidonic acid pathway genes and fish consumption. Carcinogenesis 26(2):449-457
26. Nielsen M, Joerink-van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HF et al (2009) Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 136(2):471-476
27. Genomic sequence: NG-008189.1. (2012) Available at: http://www.ncbi.nlm. nih.gov/gene/4595. Accessed 02 Aug 2012
28. Win AK, Hopper JL, Jenkins MA (2011) Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer 10(1):1-9
29. Jones N, Vogt S, Nielsen M, Christian D, Wark PA, Eccles D et al (2009) Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137(2):489-494 494.e1; quiz 725-726
30. Nielsen M, de Miranda NF, van Puijenbroek M, Jordanova ES, Middeldorp A, van Wezel T et al (2009) Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer 15(9):184
31. van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM et al (2008) Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res 14(1):139-142