Question
Which gene would you test if the patient has a family history of breast and ovarian cancer?
| A. | BRCA1/2 |
| B. | P53 |
| C. |
PTEN |
| D. |
CDH1 |
|
Correct Answer � A Explanation |
 |
BRCA1 and BRCA2 (Breast Cancer gene 1 and 2) are tumor suppressor genes that play a crucial role in DNA repair through homologous recombination. Inherited mutations in these genes are strongly associated with:
• Hereditary breast cancer
• Hereditary ovarian cancer
• Increased risk of prostate and pancreatic cancers as well
Patients with BRCA1/2 mutations have a significantly higher lifetime risk of developing breast and ovarian cancer compared to the general population. This is why genetic testing for BRCA1/2 is indicated in individuals with a strong family history, especially with:
• Multiple family members affected
• Early-onset breast cancer (<50 years)
• Bilateral or male breast cancer
• Ashkenazi Jewish ancestry with a family history
P53 is associated with Li-Fraumeni syndrome, which includes a variety of cancers (sarcomas, brain tumors, breast cancer), but not specifically linked to hereditary ovarian cancer.
PTEN is involved in Cowden syndrome, which increases risk for breast, thyroid, and endometrial cancers.
CDH1 mutations are associated with hereditary diffuse gastric cancer and lobular breast cancer, but not typically ovarian cancer.
