Genetics of endometrial cancer.

[cowden syndrome]

Women who report a history of endometrial cancer in a first -degree relative are at increased risk of endometrial cancer , with a hazard ratio of 1 .5 to 2 .0 . Only a minority of patients with familial endometrial cancer have a recognized cancer syndrome . Lynch syndrome is the most common genetic syndrome associated with endometrial cancer and a marked increased risk of colon cancer . Cowden syndrome is a rare condition resulting from a mutation in the tumor suppressor gene phosphatase and tensin homolog . The risk for endometrial cancer is about five times higher in women with Cowden syndrome than in the general population . Recently , a novel germline mutation in the POLD 1 gene that encodes the catalytic subunit of DNA polymerase δ was described in several families with multiple cases of endometrial cancer . This mutation is also associated with colorectal cancer . The association between BRCA 1 mutations and endometrial cancer has been investigated in several studies ; it appears that the risk of endometrial cancer is restricted to women with a history of tamoxifen exposure . In recent years , research has focused on genetic polymorphisms that are associated with endometrial cancer risk . Although many polymorphisms have been identified , their clinical significance is unclear and they have not been adapted for clinical practice .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated