Similar articles

Abstract: A small proportion of many cancers are due to inherited mutations in genes, which result in a high risk to the individual of developing specific cancers. There are several classes of genes that may be involved: tumour suppressor genes, oncogenes, genes encoding proteins involved in DNA repair and cell cycle control, and genes involved in stimulating the angiogenic pathway. Alterations in susceptibility to cancer may also be due to variations in genes involved in carcinogen metabolism. This review discusses examples of some of these genes and the associated clinical conditions caused by the inheritance of mutations in such genes.

[1] Antoniou, A., Pharoah, P.D.P., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Loman, N., Olsson, H., Johannsson, O., Borg, A., et al., 2003. Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet., 72(5):1117-1130.

[2] Bandipalliam, P., Garber, J., Kolodner, R.D., Syngal, S., 2004. Clinical presentation correlates with the type of mismatch repair gene involved in Hereditary Nonpolyposis Colon Cancer. Gastroenterology, 126(3):936-937.

[3] Eng, C., Mulligan, L.M., Healey, C.S., Houghton, C., Frilling, A., Raue, F., Thomas, G.A., Ponder, B.A.J., 1996. Heterogeneous mutation of the RET proto-oncogene in subpopulation of medullary thyroid carcinoma. Cancer Res., 56:2167-2170.

[4] Heiskanen, I., Luostarinen, T., Järvinen, H.J., 2000. Impact of screening examinations on survival in familial adenomatous polyposis. Scand. J. Gastroenterol., 35(12):1284-1287.

[5] Hodgson, S.V., Foulkes, W., Eng, C., Maher, E.R., 2007. A Practical Guide to Inherited Cancer Susceptibility. Cambridge University Press, UK.

[6] Huang, H.Y., Yeo, J.K., Shaw, J.Y., Chen, P.L., Bookstein, R., Friedmann, T., Lee, E.Y., Lee, W.H., 1988. Suppression of neoplastic phenotype by replacement of the RB gene in human cancer cells. Science, 242(4885):1563-1566.

[7] Ilyas, M., Tomlinson, I.P., 1997. The interactions of APC, E-cadherin and beta-catenin in tumour development and progression. J. Pathol., 182(2):128-132.

[8] Kennedy, R.K., Quinn, J.E., Johnston, P.G., Harkin, D., 2002. BRCA1: mechanisms of inactivation and implications for management of patients. Lancet, 360(9338):1007-1014.

[9] Knudson, A.G., 1971. Mutation and human cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA, 68(4):820-823.

[10] Maher, E.R., Yates, J.R.W., Harries, R., Benjamin, C., Harris, R., Moore, A.T., Ferguson-Smith, M.A., 1990. Clinical features and natural history of von Hippel Lindau disease. Q. J. Med., 77(283):1151-1163.

[11] Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R., 2004. A genotype-phenotype correlation in HNPCC: strong predominance of MSH2 mutations in 41 patients with Muir-Torre syndrome. J. Med. Genet., 41(7):567-572.

[12] Meijers-Heijboer, H., van Geel, B., van Putten, W.L., Henzen-Logmans, S.C., Seynaeve, C., Menke-Pluymers, M.B.E., Bartels, C.C.M., Verhoog, L.C., van den Ouweland, A.M.W., Niermeijer, M.F., et al., 2001. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med., 345(3):159-164.

[13] Narod, S., 2001. Prophylactic mastectomy in carriers of BRCA mutations. N. Engl. J. Med., 345(20):1498.

[14] Park, J.G., Kim, D.W., Hong, C.W., Nam, B.H., Shin, Y.K., Hong, S.H., Kim, I.J., Lim, S.B., Aronson, M., Bisgaard, M.L., et al., 2006. International Society for Gastrointestinal Hereditary Tumours. Germ line mutations of mismatch repair genes in Hereditary Nonpolyposis Colorectal Cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clin. Cancer Res., 12(11 Pt 1):3389-3393.

[15] Peltomaki, P., Vasen, H., 2004. Mutations associated with HNPCC predisposition—update of ICG-HNPCC/INSiGHT mutation database. Dis. Markers, 20(4-5):269-276.

[16] Rebbeck, T.R., Levin, A.M., Eisen, A., Snyder, C., Watson, P., Cannon-Albright, L., Isaacs, C., Olopade, O., Garber, J.E., Godwin, A.K., et al., 1999. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J. Natl. Cancer Inst., 91(17):1475-1479.

[17] Sampson, J.R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D., Frayling, I., Jordan, S., Maher, E., Mak, T., 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet, 362(9377):39-41.

[18] Sieber, O.M., Heinimann, K., Tomlinson, I.P., 2003. Genomic instability: the engine of tumourigenesis? Nat. Rev. Cancer, 3(9):701-708.

[19] Thompson, D., Easton, D.F., 2002a. Breast cancer linkage consortium: variation in BRCA1 cancer risks by mutation position. Cancer Epidemiology, Biomarkers and Prevention, 11:326-329.

[20] Thompson, D., Easton, D.F., 2002b. Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J. Natl. Cancer Inst., 94(18):1358-1365.

[21] Vasen, H.F., Stormorken, A., Menko, F.H., Nagengast, F.M., Kleibeuker, J.H., Griffioen, G., Taal, B.G., Moller, P., Wijnen, J.T., 2001. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of Hereditary Nonpolyposis Colorectal Cancer families. J. Clin. Oncol., 19(20):4074-4080.

[22] Watson, P., Riley, B., 2005. The tumor spectrum in the Lynch syndrome. Fam. Cancer, 4(3):245-248.