Breast, ovarian cancer – genetic predisposition, BRCA1 gene mutation carrier test (3819del5)
Analysis ID 165
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Breast, ovarian cancer – genetic predisposition, BRCA1 gene mutation carrier test (3819del5)
OMIM #604370
Clinical information Strong clinical genetic predisposition to mammary gland and ovarian cancer is usually connected with constitutive mutation in the BRCA1 and BRCA2 gene. It appears mostly with hereditary breast cancer - site specific HBC-ss or hereditary breast-ovarian cancer HBOC or hereditary ovarian cancer HOC. Due to high genetic homogeneity of the Polish population, predisposition to mammary gland and ovarian cancer comprises carrier testing of 3 most common mutations in the BRCA1 gene: 5382insC, 4153delA, 300T/G. However, additional less frequent (f. e. 3819del5) mutations can be tested.
Type of analysis Molecular
Type of biological material 5ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes BRCA1
Analysis description Testing for the 3819del5 mutation in the BRCA1 gene
Analysis indication Familial cases of breast and/or ovarian cancer
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology