nach oben

Familial Cancer

Erschienen in:

01.03.2011

Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis

verfasst von: Aung Ko Win, John L. Hopper, Mark A. Jenkins

Erschienen in: Familial Cancer | Ausgabe 1/2011

Einloggen, um Zugang zu erhalten

Abstract

Whether people who inherit a mutation in MUTYH from only one parent (monoallelic mutation) are at increased risk of colorectal cancer (CRC) remains controversial. Most previous studies and meta-analyses have not found statistically significant associations but, given carriers are relatively rare, may be underpowered to detect small increased risks. We have conducted a systematic review and meta-regression analysis of previously published case–control studies to estimate the strength of association for monoallelic MUTYH mutation and CRC risk. Potential sources of heterogeneity were evaluated. We have compared the carrier frequency in cases with a family history of CRC to that of controls, as a novel and powerful design, to measure statistical evidence of an association but not the strength of association. The magnitude of the genotype-disease association, estimated from a pooled odds ratio comparing cases unselected for family history with controls, was 1.15 (95% CI = 0.98–1.36) and not substantially altered by adjustment for potential sources of heterogeneity. Monoallelic mutation carrier frequency was greater for cases ascertained due to a family history (3.3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P = 0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small.

Nur mit Berechtigung zugänglich

Johns LE, Houlston RS (2001) A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol 96(10):2992–3003CrossRefPubMed

Baglietto L, Jenkins MA, Severi G et al (2006) Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancer. J Clin Epidemiol 59(2):114–124CrossRefPubMed

Peltomaki P (2003) Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21(6):1174–1179CrossRefPubMed

Fearnhead NS, Britton MP, Bodmer WF (2001) The ABC of APC. Hum Mol Genet 10(7):721–733CrossRefPubMed

Tenesa A, Dunlop MG (2009) New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet 10(6):353–358CrossRefPubMed

Ames BN, Gold LS (1991) Endogenous mutagens and the causes of aging and cancer. Mutat Res 250(1–2):3–16PubMed

Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 30(2):227CrossRefPubMed

Sampson JR, Dolwani S, Jones S et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39–41CrossRefPubMed

Sieber OM, Lipton L, Crabtree M et al (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348(9):791–799CrossRefPubMed

10.

Croitoru ME, Cleary SP, Di Nicola N et al (2004) Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 96(21):1631–1634CrossRefPubMed

11.

Enholm S, Hienonen T, Suomalainen A et al (2003) Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 163(3):827–832CrossRefPubMed

12.

Farrington SM, Tenesa A, Barnetson R et al (2005) Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 77(1):112–119CrossRefPubMed

13.

Peterlongo P, Mitra N, Chuai S et al (2005) Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH. Int J Cancer 114(3):505–507CrossRefPubMed

14.

Zhou XL, Djureinovic T, Werelius B et al (2005) Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. Genet Test 9(2):147–151CrossRefPubMed

15.

Tenesa A, Campbell H, Barnetson R et al (2006) Association of MUTYH and colorectal cancer. Br J Cancer 95(2):239–242CrossRefPubMed

16.

Webb EL, Rudd MF, Houlston RS (2006) Colorectal cancer risk in monoallelic carriers of MYH variants. Am J Hum Genet 79(4):768–771CrossRefPubMed

17.

Balaguer F, Castellví-Bel S, Castells A et al (2007) Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 5(3):379–387CrossRefPubMed

18.

Avezzù A, Agostini M, Pucciarelli S et al (2008) The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. Cancer Lett 268(2):308–313CrossRefPubMed

19.

Cleary SP, Cotterchio M, Jenkins MA et al (2009) Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136(4):1251–1260CrossRefPubMed

20.

Lubbe SJ, Di Bernardo MC, Chandler IP et al (2009) Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 27(24):3975–3980CrossRefPubMed

21.

Wang L, Baudhuin LM, Boardman LA et al (2004) MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127(1):9–16CrossRefPubMed

22.

Fleischmann C, Peto J, Cheadle J et al (2004) Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer 109(4):554–558CrossRefPubMed

23.

Colebatch A, Hitchins M, Williams R et al (2006) The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. Br J Cancer 95(9):1239–1243CrossRefPubMed

24.

Kambara T, Whitehall VLJ, Spring KJ et al (2004) Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer 40(1):1–9CrossRefPubMed

25.

Jenkins MA, Croitoru ME, Monga N et al (2006) Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 15(2):312–314CrossRefPubMed

26.

Antoniou AC, Easton DF (2003) Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 25(3):190–202CrossRefPubMed

27.

Houlston RS, Peto J (2003) The future of association studies of common cancers. Hum Genet 112(4):434–435PubMed

28.

Jones S, Emmerson P, Maynard J et al (2002) Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C → T:A mutations. Hum Mol Genet 11(23):2961–2967CrossRefPubMed

29.

Sampson JR, Jones S, Dolwani S et al (2005) MutYH (MYH) and colorectal cancer. Biochem Soc Trans 33(Pt 4):679–683PubMed

30.

Dolwani S, Williams GT, West KP et al (2007) Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. Gut 56(4):593CrossRefPubMed

31.

Gismondi V, Meta M, Bonelli L et al (2004) Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 109(5):680–684CrossRefPubMed

32.

Isidro G, Laranjeira F, Pires A et al (2004) Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 24(4):353–354CrossRefPubMed

33.

Gorgens H, Kruger S, Kuhlisch E et al (2006) Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH. J Mol Diagn 8(2):178–182CrossRefPubMed

34.

Chen H, Xu L, Qi Q et al (2008) A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese. BMC Cancer 8(1):269CrossRefPubMed

35.

Out A, Tops C, Nielsen M, et al (2010) Leiden open variation database of the MUTYH gene. Hum Mutat. doi:101002/humu21343 (accepted 29 July 2010)

36.

Begg CB, Mazumdar M (1994) Operating characteristics of a rank correlation test for publication bias. Biometrics 50(4):1088–1101CrossRefPubMed

37.

Egger M, Smith GD, Schneider M et al (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315(7109):629–634PubMed

38.

StataCorp (2007) Stata statistical software: release 10. StataCorp LP, College Station

39.

Peterlongo P, Mitra N, Abajo ASd et al (2006) Increased frequency of disease-causing MYH mutations in colon cancer families. Carcinogenesis 27(11):2243–2249CrossRefPubMed

40.

Grunhage F, Jungck M, Lamberti C et al (2008) Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer. Cancer Biomark 4(2):55–61PubMed

41.

Moreno V, Gemignani F, Landi S (2006) Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 12:2101–2108CrossRefPubMed

42.

Jones N, Vogt S, Nielsen M et al (2009) Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137(2):489–494CrossRefPubMed

Titel: Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis
verfasst von: Aung Ko Win
John L. Hopper
Mark A. Jenkins
Publikationsdatum: 01.03.2011
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2011
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9399-5

Springer Medizin

Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis

Abstract

Neu im Fachgebiet Onkologie

Labor, CT-Anthropometrie zeigen Risiko für Pankreaskrebs

Viel pflanzliche Nahrung, seltener Prostata-Ca.-Progression

Alter verschlechtert Prognose bei Endometriumkarzinom

Darf man die Behandlung eines Neonazis ablehnen?

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2011

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history

Care for patients with multiple endocrine neoplasia type 1: the current evidence base

An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations

An analysis of the efficacy of serial screening for familial nasopharyngeal carcinoma based on Markov chain models

Genetic epidemiological analysis reveals a multi-gene additive model for gastric cancer

Neu im Fachgebiet Onkologie

Labor, CT-Anthropometrie zeigen Risiko für Pankreaskrebs

Viel pflanzliche Nahrung, seltener Prostata-Ca.-Progression

Alter verschlechtert Prognose bei Endometriumkarzinom

Darf man die Behandlung eines Neonazis ablehnen?

Update Onkologie