December 3, 2024

45-year-old female with family history of breast cancer

By Med-Challenger · 2 minute read

A 45-year-old female patient presents for an annual exam. Medical history includes 2 sisters with breast cancer, both before the age of 50. The patient reports that annual mammograms have been normal, and no masses were noted on clinical exam.

Which of the following statements is true?

She has a higher risk of having a BRCA mutation compared with a woman with no family history of breast cancer diagnosed with breast cancer herself at age 49 years.
Around 60% of all breast cancer are caused by BRCA mutations.
The lifetime risk of breast cancer is higher with BRCA2 than with BRCA1 germ-line mutations.
The cumulative risk of breast cancer in women diagnosed with a BRCA mutation is up to 70% by the age of 70 years

The correct answer is:

The cumulative risk of breast cancer in women diagnosed with a BRCA mutation is up to 70% by the age of 70 years

Educational Objective:

Review the factors that influence the decision to screen patients for breast cancer earlier than guidelines call for.

Key Point:

Patients with a history of family members with breast cancer should be evaluated for a BRCA mutation.

Explanation:

Genetic counseling should be considered with this patient. Genetic testing should ideally be carried out when there is the highest risk of a positive test and this occurs in patients diagnosed with breast cancer at age ≤ 50 years or women diagnosed with triple negative breast cancer at age ≤60 years. However, according to the NCCN guidelines, her family history of 2 individuals on the same side of the family diagnosed at a young age is sufficient to justify testing. Genetic mutations account for less than 10% of all cases of breast cancer, although BRCA1 and 2 mutations account for the majority of these patients. The lifetime risk of breast cancer is slightly higher in women with the BRCA1 mutation compared with those with the BRCA2 mutation.

References:

Mutch DG, Babb SA, Di Saia PJ. Genes and Cancer: Genetic Counseling and Clinical Management. Book Chapter in Clinical Gynecologic Oncology, 19, 493-527.e6.

Peshkin BN, Isaacs C. Genetic counseling and testing for hereditary breast and ovarian cancer. Updated March 2016. Accessed June 20th, 2017.

Davidson NE, Breast Cancer and Benign Breast Disorders, Goldman-Cecil Medicine, 2020; 188: 1319-1327.e3

This question appears in Med-Challenger OBGYN Exam Review with CME

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