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A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers.
It predisposes individuals to renal cell cancer, an association denominated hereditary leiomyomatosis and renal cell cancer. [1] [2] It is also associated with increased risk of uterine leiomyosarcoma. [3] The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate.
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer, ovarian cancer and additional cancers in genetically related families (either one individual had both, or several individuals in the pedigree had one or the other disease). It accounts for 90% of the hereditary ...
Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast cancer and ovarian cancer, [81] and hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome), which is present in about 3% of people with colorectal cancer, [82] among others.
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. [1]
Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant hereditary cancer syndrome, which is characterized by numerous polyps in the colon and an increased risk of colorectal cancer. [1] It is caused by germline mutations in DNA polymerase ε and δ . [1]
Cancer caused by a mutated gene inherited from an individual's parents is a hereditary cancer rather than a sporadic cancer. Because humans have a diploid genome, each cell has two copies of the gene (one from each biological parent).