Breast cancer susceptibility genes; BRCA1; BRCA2.
- Familial cancer
Familial cancer: Cancer or a predisposition (tendency) to it that runs in families.
- Familial colorectal cancer
Familial colorectal cancer: A label applied to families that contain an unusual aggregation of members with cancer of the colon or rectum but that do not appear to have a known inherited colorectal cancer syndrome. Familial colorectal cancer (FCC) is essentially a descriptive term and does not point to a particular underlying cause.
- Familial cylindromatosis
Familial cylindromatosis: A genetic syndrome in which numerous benign tumors of skin adnexa (such as the sweat glands) develop, principally on the head and neck. This disorder is inherited in an autosomal manner and is caused by mutation of the CYLD gene on chromosome 16q12-q13. Mutation of CYLD has been likened to having faulty brakes […]
- Familial dysautonomia
Familial dysautonomia: A genetic disorder of the autonomic nervous system, affecting especially Ashkenazi Jewish children. Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31. Dysautonomia refers to the dysfunction of the autonomic nervous system. Familial dysautonomia is symbolized DYS. The features of familial […]
- Familial eosinophilia
Familial eosinophilia: An autosomal dominant condition characterized by an abnormally high level of eosinophils in the blood. Despite the prolonged eosinophilia, there may be no symptoms. The gene for familial eosinophilia, called EOS, has been mapped to chromosome region 5q31-33 containing the cytokine gene cluster which includes the genes for interleukin-3 (IL-3), interleukin-5 (IL-5), and […]