## **Core Concept**
The question involves a familial cancer scenario suggestive of a hereditary cancer syndrome. The patient's presentation with breast cancer, along with a family history of breast and ovarian cancer, points towards a genetic predisposition. This is likely related to mutations in genes that are known to increase the risk of breast and ovarian cancers.
## **Why the Correct Answer is Right**
The correct answer, **BRCA1**, is a tumor suppressor gene, and mutations in this gene are associated with an increased risk of breast, ovarian, and other cancers. The patient's young age at diagnosis, the presence of anaplastic ductal cells suggesting an aggressive form of cancer, and the family history of breast and ovarian cancer in first and second-degree relatives are all suggestive of a hereditary breast and ovarian cancer (HBOC) syndrome. **BRCA1** mutations are more commonly associated with this syndrome than **BRCA2**, although both are implicated.
## **Why Each Wrong Option is Incorrect**
- **Option A: TP53** - While **TP53** mutations are associated with Li-Fraumeni syndrome, which also increases the risk of breast cancer, the syndrome typically presents with a broader range of cancers, including childhood cancers and sarcomas, not prominently featured in this family history.
- **Option B: BRCA2** - Although **BRCA2** mutations also increase the risk of breast and ovarian cancer, the pattern of cancers in this family (breast and ovarian) could be seen with either **BRCA1** or **BRCA2**. However, **BRCA1** is more strongly associated with ovarian cancer and more frequently identified in familial cases with multiple affected relatives across generations.
- **Option D: CHEK2** - **CHEK2** mutations confer an increased risk of breast cancer but are not as strongly associated with ovarian cancer as **BRCA1** or **BRCA2** mutations. The family history provided does not specifically suggest a pattern that would point to **CHEK2** over **BRCA1** or **BRCA2**.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that patients with a strong family history of breast, ovarian, or other cancers should be considered for genetic counseling and possible genetic testing. The presence of **BRCA1** or **BRCA2** mutations not only affects the management of the patient's current cancer but also guides preventive measures for the patient and potentially for family members.
## **Correct Answer: B. BRCA1**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.