Molecular Genetic Testing
Breast Cancer, hereditary

Indication and Diagnostic Value

One of the following criteria are indicative for a genetic test of BRCA1/2 mutations: women who have more than two first or second degree relative with breast or ovarian cancer; early age of onset of cancer; breast cancer occurred in both breasts; family member with multiple primary cancers; males with breast cancer in the family.

BRCA 1 and BRCA 2 are cancer susceptibility genes. Normally, they regulate cell growth. However, alterations (mutations) in these genes can change their normal function leading to an increased chance of developing cancer. Mutations in these genes (Breast Cancer Gene 1- BRCA 1, and Breast Cancer Gene 2 - BRCA 2) account for almost 65% of all inherited breast and ovarian cancers. If a mutation is detected in one of these genes, cancer will develop with high probability during live. The lifetime risk for developing breast cancer may vary between 70 - 80% in the dependence on the family history. The lifetime risk for developing ovarian cancer is 40 - 60% in case of occurrence of a BRCA 1 mutation and 15 - 20% at BRCA 2 mutations. An individual with a BRCA 1 or BRCA 2 mutation has a 50% chance of passing down that alteration to his or her children independent of the sex of the child.

In case that a disease-associated mutation has been found, IMMD provides you with a detailed description of the test results and with an interpretation of the data with regard to risk evaluation. Independently, on this clinical report we strongly recommend to consult a MD of your trust to discuss which steps should be undertaken for early detection and prevention of disease.

Samples and Test Method

EDTA blood
should be sent to our laboratory. The techniques used are Fluorescence Conformation Sensitive Gel Electrophoresis (CSGE) on an ABI 377, or Denaturating High Pressure Liquid Chromatography (DHPLC) by WAVE, followed by sequencing gene fragments harbouring putative mutations in order to exactly determine the DNA sequence of each of the mutation. Both, BRCA 1 and BRCA 2 are always analyzed.

Turnaround time for this test is 3 months.

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