Familial cancer syndromes and genetic counseling

Modification of cancer risks in offspring by sibling and parental cancers from 2,112,616 nuclear families

“…Increased risks in colon and rectal cancers, and their clustering with endometrial, ovarian and urinary bladder cancers are part of hereditary non-polyposis colorectal cancer syndrome (HNPCC), caused by germline mutations in mismatch repair genes hMLH1, hMSH2, hPSM1, hPMS2 and hMSH6. 42,43 Among the other sites, ovarian cancer is likely to be linked to BRCA1 and BRCA2, renal cancer to the VHL gene, melanoma to [42][43][44] Even though candidate genes have been described at many cancer sites, as described above, they are likely to explain only a part of the familial aggregation, e.g., more than 100 melanoma kindreds were sequenced for germline p16 mutations in Sweden, and only 8% were found to carry a mutation. 48 Thus other yet unidentified susceptibility genes are likely to exist.…”

Functional Genomics

“…The identification of disease-related genes has led to an increase in the number of available genetic tests that detect diseases or an individual's risk of disease. [24][25][26][27][28][29][30] Genetic testing is available for many disorders, including Tay-Sachs disease and cystic fibrosis. New tests are being developed to detect predispositions to Alzheimer disease, colon cancer, breast cancer, and other conditions.…”