A female patient presented with a firm mass of 2 x 2 ems in the upper outer quadrant of the breast. She gives a family history of ovarian carcinoma. The investigation that needs to be done to assess for mutation is –
**Core Concept**
The patient's family history of ovarian carcinoma and the presence of a breast mass raise the suspicion of a hereditary cancer syndrome, specifically BRCA1 or BRCA2 mutation. This genetic mutation increases the risk of developing breast and ovarian cancers.
**Why the Correct Answer is Right**
The correct investigation to assess for BRCA1 or BRCA2 mutation is genetic testing. This involves analyzing the patient's DNA to identify mutations in the BRCA1 or BRCA2 genes. The BRCA1 and BRCA2 genes are tumor suppressor genes that, when functioning normally, repair DNA damage and help maintain the stability of the genome. Mutations in these genes can lead to uncontrolled cell growth and cancer. Genetic testing can detect these mutations, allowing for early detection and management of cancer risk.
**Why Each Wrong Option is Incorrect**
**Option A:** Imaging studies such as mammography or ultrasound may be used to evaluate the breast mass, but they do not assess for genetic mutations.
**Option B:** Serum tumor markers such as CA 15-3 or CA 27.29 may be elevated in some breast cancers, but they are not specific for BRCA1 or BRCA2 mutation.
**Option C:** A biopsy may be necessary to diagnose the breast mass, but it does not assess for genetic mutations.
**Clinical Pearl / High-Yield Fact**
Genetic testing for BRCA1 and BRCA2 mutations is recommended for individuals with a personal or family history of breast or ovarian cancer, particularly if there are multiple cases in the family.
**Correct Answer:** C.