BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: BROVCA1 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED
Number of Symptoms 2
OrphanetNr:
OMIM Id: 604370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003002) Breast carcinoma 23 / 7739
2
(OMIM) Ovarian cancer 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Familial Breast Cancer

Features characteristic of familial, versus sporadic, breast cancer are younger age at diagnosis, frequent bilateral disease, and frequent occurrence of disease among men Hall et al. (1990).

According to the ...

Molecular genetics OMIM In affected members of 5 of 8 kindreds with hereditary breast-ovarian cancer syndrome, Miki et al. (1994) identified 5 different heterozygous pathogenic mutations in the BRCA1 gene (see, e.g., 113705.0035). The mutations included an 11-bp deletion, a 1-bp ...
Population genetics OMIM - Ashkenazi Jewish Population

In a study of 37 families with 4 or more cases of breast cancer or breast and ovarian cancer, Friedman et al. (1995) found that 5 families of Ashkenazi Jewish descent carried ...