The genetics of hereditary common cancers.
Subsets of patients with common cancers belong to families in which the predisposition is inherited in a regular Mendelian fashion. Genes underlying these cancers are now recognized in colorectal cancer (APC, mismatch repair genes, LKB1) and in breast cancer (BRCA1, BRCA2) whereas, in prostate cancer, a locus in chromosome 1 (HPC1) has been proposed on the basis of linkage analysis. Major challenges are to determine the population incidence of these mutations, their penetrance, phenotypic expression, and the effects of modifier genes and epigenetic factors. Finally, the role of encoded proteins in carcinogenesis is a matter of major interest.
de la Chapelle
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Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA. delachapelle-1@medctr.osu.edu
Peltomäki
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D001943:Breast Neoplasms / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics*; D009857:Oncogenes / Q000235:genetics; D011471:Prostatic Neoplasms / Q000235:genetics