Cowden Disease

Cowden disease
Cowden syndrome see Cowden disease
Coxa Plana see Perthes disease
CPS Deficiency see Urea Cycle Disorders
CPT I see Fatty Acid Oxidation Disorders
CPT II see Fatty Acid Oxidation Disorders
Cranial Dystonia see Dystonia ...

Muir- Torre syndrome
Li- Fraumeni syndrome
Cancer syndrome
Cowden disease
Ataxic telangietasia induced tumour of breast
Infiltrating lobular carcinoma
Medullary carcinoma
Invasive breast cancer
more types...» ...

Several other genes (those for the Li-Fraumeni syndrome, Cowden disease, Muir-Torre syndrome, and ataxia-telangiectasia) are also known to predispose to breast cancer.

imaging (MRI) as a screening test for breast cancer among women at elevated risk of breast cancer based on BRCA1/2 mutation carriers, a strong family history of breast cancer, or several genetic syndromes such as Li-Fraumeni or Cowden disease.

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) occurs in the setting of Cowden disease, which is associated with a germline mutation of the gene PTEN/MMAC1 (located on 10q23).

Mutation spectrum and genotype-phenotype analysis in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutations. Hum Mol Genet 1998: 7(3):507-15.
Marsh DJ, Dahia PL, Zheng Z, et. al.

See also: Cancer, Symptom, Deficiency, Genetics, Breast Cancer