familial cancer syndrome

familial cancer syndrome

Any genetic predisposition to cancer that is found in several generations of a kindred. Some recognized cancer syndromes that recur in families include the multiple endocrine neoplasias, retinoblastoma, familial polyposis of the colon, and Fanconi's anemia, among others.
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* Two or more first-degree relatives with tumor types belonging to a known familial cancer syndrome.
(1,2) In contrast, juvenile polyposis, characterized by multiple juvenile polyps of the gastrointestinal tract, is a familial cancer syndrome with autosomal dominant inheritance.
We present the case of an exceedingly rare familial cancer syndrome treated with nivolumab resulting in encephalitis.
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system.
Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J.
Management of extraocular sebaceous carcinoma is complicated by its association with the familial cancer syndrome, Muir-Torre Syndrome.
An estimated 15% to 20% of colorectal cancers are related to a familial cancer syndrome. (2) Colorectal cancer associated with a germline mutation in a MMR gene accounts for about 3% of all colorectal cancers and is by far the most common heritable cause of colon cancer.
Lhermitte-Duclos disease is closely associated with Cowden's syndrome, a rare, autosomal-dominant, familial cancer syndrome characterized by multiple hamartomas and neoplasms of ectodermal, mesodermal, and endodermal origin.
It is important to remember that many families whose history of cancer is consistent with a particular familial cancer syndrome will not be found to have a deleterious mutation in the gene believed to be responsible for that syndrome.
"For example, if a patient's grandmother had breast cancer when she was 65, an aunt had cervical cancer at age 25, and an uncle had lung cancer because he smoked, that may indeed be a strong family history of cancer, but when you ask if this is consistent with a familial cancer syndrome, it is not," Dr.
"We're not suggesting that every familial cancer syndrome involves p53," he says.
PCCs are seen both sporadically and in association with a number of familial cancer syndromes such as VHL disease, multiple endocrine neoplasia type 2, paraganglioma syndromes type 1, 3 and 4, and, rarely, in neurofibromatosis (13).

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