Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Tuesday, December 01, 2015

Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes



open access

.... As a result, hereditary cancers are characterized by 1) early onset of cancer, often younger than 50 years at diagnosis compared with an average age of 60 years in the general population, 2) frequent synchronous and metachronous cancers of the spectrum that reflect a multiple or successive somatic events, and 3) a familial history of cancers through generations in which the cancer types correspond to the syndrome's tumor spectrum.....

(Lynch Syndrome section) Cancer risk in mutation carriers varies largely with cancer syndromes and the involved predisposition genes. The lack of a correlation between genotype and phenotype and the variable penetrance (the expressivity of the mutant gene) render the risk estimation very challenging. Indeed, for patients with Lynch syndrome, carriers of the same mutation can have different clinical manifestations even within the same family, and histologically similar malignancies can be caused by a variety of mutations of any one of the MMR genes....

The physiopathology of HBOC is quite similar to Lynch syndrome.







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