NextGen : BRCA Targeted Mutation Detection, EDTA Blood

Breast and Ovarian cancers are the commonest forms of cancer in women. 5-10% of breast cancers and 15-20% of ovarian cancers are hereditary and are due to a mutation in the cancer gene. Germline mutations in BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner and are associated with an increased risk of breast and ovarian cancer, Fallopian tube, Peritoneal, prostate cancer and melanoma. BRCA gene test detects specific germline mutation in BRCA 1 and BRCA2 that was detected in the index case in the family by PCR- Sanger sequencing.

The BRCA1 and BRCA2 genes are the two that are most frequently impacted in hereditary breast and ovarian cancer. BRCA1 and BRCA2 gene mutations account for roughly 3% of breast cancers (affecting about 7,500 people annually) and 10% of ovarian cancers (affecting about 2,000 women annually).

The BRCA1 and BRCA2 genes often guard you against developing specific tumors. However, some abnormalities in the BRCA1 and BRCA2 genes make them unable to function normally, making it more probable for someone to inherit one of these mutations and develop breast, ovarian, and other cancers. The risk of developing breast or ovarian cancer is not universal among people who inherit a BRCA1 or BRCA2 mutation.

Test Overview

The most frequent types of cancer in women are breast and ovarian. Hereditary cancer is caused by a mutation in the cancer gene and accounts for 5–10% of breast cancers and 15–25% of ovarian cancers. The risk of melanoma, peritoneal, breast, ovarian, fallopian tube, and peritoneal cancer is raised by hereditary germline mutations in the BRCA1 and BRCA2 genes, which are inherited in an autosomal dominant way. With the help of PCR-Sanger sequencing, the index case in the family's BRCA1 and BRCA2 germline mutations were identified, and this test may identify those mutations.

The first step is to gather information about breast and ovarian cancer in your family history and give it to your doctor if you are worried that you might have a BRCA1, BRCA2, or any other mutation linked to breast and ovarian cancer.

Who Should Do the BRCA1/2 TARGETED MUTATION ANALYSIS (FAMILY MEMBERS)?

Patients with early-onset breast and/or ovarian cancer who come from families where these diseases have been diagnosed frequently are prime candidates for BRCA mutations. Because a specific BRCA mutation does not always result in cancer in a specific person, BRCA testing is predictive.

What Other Tests Are Ordered Along with the BRCA1/2 TARGETED MUTATION ANALYSIS (FAMILY

MEMBERS)?

A specific deleterious BRCA1 or BRCA2 gene mutation which has previously been found in a family member is the focus of certain tests. Other assays examine both genes for all known dangerous mutations.

Written by: Dr Vishal Wadhwa, M.D, D.N.B Microbiology, Medical Affairs