OVARIAN CANCEROVARIAN CANCER, EPITHELIAL, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 167000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100621) Dysgerminoma 3 / 7739
2
(HPO:0006774) Ovarian papillary adenocarcinoma 1 / 7739
3
(HPO:0003002) Breast carcinoma 23 / 7739
4
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
5
(OMIM) Frequent loss of heterozygosity at 6q24-q27 1 / 7739
6
(OMIM) Ovarian cancer 3 / 7739
7
(OMIM) Serous ovarian cystadenocarcinoma 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to ...
Genotype-Phenotype Correlations OMIM Grindedal et al. (2010) performed a retrospective survival study of 144 women with ovarian cancer due to MMR mutations. Fifty-one (35.4%) had a mutation in MLH1, 78 (54.2%) had a mutation in MSH2, and 15 (10.4%) had a ...
Molecular genetics OMIM - Germline Mutations

Stratton et al. (1999) conducted a population-based study to determine the contribution of germline mutations in known candidate genes to epithelial ovarian cancer diagnosed before the age of 30 years. Two of 101 ...