Rosh Internal Medicine Boost Practice Exam

In women with a family history of breast cancer, what is an important screening recommendation?

1. Mammogram by age 40

2. Genetic testing

3. Annual MRI

4. Breast ultrasound every year

The correct answer is: Genetic testing

For women with a family history of breast cancer, genetic testing is a crucial screening recommendation. This is because identifying individuals who carry genetic mutations, particularly BRCA1 or BRCA2, can significantly influence the management of their breast cancer risk. Genetic testing helps determine whether a woman has inherited a predisposition to breast and possibly ovarian cancer, allowing for more personalized screening and preventive strategies, such as increased surveillance or prophylactic surgeries. For those who test positive for these gene mutations, guidelines generally recommend starting breast cancer screening earlier than the general population and may include a combination of mammography and MRI due to their higher sensitivity in detecting tumors in high-risk women. Genetic counseling following testing is also beneficial for interpreting results and understanding the implications for the individual and their family. Screening methods like mammograms, MRIs, or ultrasounds are also important; however, the initiation of these screenings should be guided by the results of genetic testing and family history. Therefore, genetic testing stands out as the most pivotal first step in the screening process for women at increased risk due to their family history.