High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis
Tóm tắt
Germline mutations in the base excision repair gene MUTYH have been associated with recessive inheritance of multiple colorectal adenomas. Screening of the MUTYH gene was carried on index cases of 10 unrelated Tunisian families and on available DNA samples from some members. Three germline mutations: c.536A > G (p.Y179C), c.1187 G > A (p.G396D) and c.1227_1228dup (p.Glu410GlyfsX43), were identified in the homozygous or compound heterozygous state in 8 out of 10 families. The c.1227_1228dup (p.Glu410GlyfsX43) mutation was the most frequent, since it was found in biallelic homozygous in 7 probands and 2 members of family F1 and in compound heterozygous associated with the c.536 A > G (p.Y179C) or c.1187 G > A (p.G396D) in family F2. Haplotype analysis revealed that the 8 families are unrelated. Moreover, in sporadic colorectal cancer, the c.1227_1228dup (p.Glu410GlyfsX43) mutation was identified in 13 % of patients compared to the p.G396D and p.Y179C found in 1.2 and 2.12 % respectively. Our data shows the high prevalence of the p.Glu410GlyfsX43 mutation in Tunisian families affected with MUTYH associated polyposis as well as in sporadic colorectal carcinoma.
Tài liệu tham khảo
Fearnhead NS, Britton MP, Bodmer WF (2001) The ABC of APC. Hum Mol Genet 10(7):721–733
Knudsen AL, Bisgaard ML, Bulow S (2003) Attenuated familial adenomatous polyposis (AFAP), a review of the literature. Fam Cancer 2(1):43–55
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):227–232
Sampson JR, Dolwani S, Jones S et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39–41
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):2961–2967
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):791–799
Kairupan CF, Meldrum CJ, Crooks R et al (2005) Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. Int J Cancer 116(1):73–77
Aretz S, Uhlhaas S, Goergens H et al (2006) MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 119(4):807–814
Pitroski CE, Cossio SL, Koehler-Santos P et al (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
Miyaki M, Iijima T, Yamaguchi T et al (2005) Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 578(1–2):430–433
Aceto G, Curia MC, Veschi S et al (2005) Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mut 26(4):394–412
Isidro G, Laranjeira F, Pires A et al (2004) Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 24(4):353–354
Lefevre JH, Colas C, Coulet F et al. (2011) Frequent mutation in North African patients with MUTYH-associated polyposis. Clin Genet 80:389–393
Cleary SP, Cotterchio M, Jenkins MA et al (2009) Germline MutY homologue mutations and colorectal cancer: a multisite case control study. Gastroenterology 136(4):1251–1260
Lefevre JH, Rodrigue CM, Mourra N et al (2006) Implication of MYH in colorectal polyposis. Ann Surg 244(6):874–879
Wittekind C, Greene FL (2005) In: Sobin LH, Wittekind C (eds) TNM classification of malignant tumours, 6th edition. Wiley, Hoboken
Aaltonen LA (2000) WHO classification of tumors: pathology and genetics of tumors of digestive system. IARC Press, Lyon, pp 105–119
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 16(3):1215
Sambrook J, Russell DW (2001) Molecular cloning. A laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
Bougatef K, Marrakchi R, Moussa A et al (2008) First genetic analysis in Tunisian familial adenomatous polyposis probands. Oncol Rep 19(5):1213–1218
Bougatef K, Marrakchi R, Kourda N et al (2007) Somatic mutation of MUTYH in Tunisian patients with sporadic Colorectal Cancer. J Clin Lab Anal 2(6):372–374
Sampson JR, Jones S, Dolwani S et al (2005) MUTYH (MYH) and colorectal cancer. Biochem Soc Trans 33(4):679–683
Tenesa A, Campbell H, Barnetson R et al (2006) Association of MUTYH and colorectal cancer. Br J Cancer 95(2):239–242
Jones N, Vogt S, Nielsen M et al (2009) Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137(2):489–494
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):379–387
Win AK, Cleary SP, Dowty JG et al (2011) Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer 129:2256–2262
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