Projects / Programmes
Hereditary breast and ovarian cancer in Slovenia
| Code |
Science |
Field |
Subfield |
| 3.04.00 |
Medical sciences |
Oncology |
|
| Code |
Science |
Field |
| B200 |
Biomedical sciences |
Cytology, oncology, cancerology |
breast cancer, ovarian cancer, hereditary, BRCA1, BRCA2
Researchers (13)
Organisations (1)
| no. |
Code |
Research organisation |
City |
Registration number |
No. of publicationsNo. of publications |
| 1. |
0302 |
Institute of Oncology Ljubljana |
Ljubljana |
5055733000 |
15,471 |
Abstract
It is estimated that about 5 – 10 % of breast and ovarian cancer cases may be due to inherited predisposition. Mutations of the BRCA 1 and BRCA 2 genes are related to high risk of breast and ovarian cancer and early onset of the disease. Clinicopathological characteristics of the tumors are related to mutation types. Until now 3700 different mutations of BRCA 1 and BRCA 2 genes were discovered. In defined populations highly recurrent founder mutations, originating in a common ancestor have been described. Recently, a Slovene founder mutation IVS16-2A>G in BRCA 2 gene was discovered. The prevalence and the clinicopathological characteristics of the cancers in Slovene IVS16-2A>G mutation carriers and the prevalence of the BRCA 1 and BRCA 2 mutations in male breast cancer patients in Slovenia are not known.
Our study has three aims:
- to identify the prevalence of the BRCA 2 IVS16-2A>G among the breast and/or ovarian cancer families residing in Slovenia carrying BRCA 1 or BRCA 2 mutations. Specially designed family history questionnaire will be offered to probands from high risk families to be fulfilled. When more than 10% risk of finding a BRCA 1 or BRCA 2 mutations is calculated, a proband will be invited for counseling session, where mutation testing will be offered.
- to identify clinicopathological tumor characteristics in BRCA 2 IVS16-2A>G mutation carriers. The clinicopathological data will be obtained from medical records from the Institute of Oncology Ljubljana and other hospitals in Slovenia.
- to determine the prevalence of the BRCA 1 / 2 mutations in male breast cancer patients in Slovenia.
By identifying the BRCA 2 IVS16-2A>G mutation prevalence and the assessment of the Slovene founder mutation linked tumors characteristics, more informative genetic counseling will be accessible in the future. Consequently, more accurate preventive clinical measures for the mutation carriers could be planed.
