Patient History of Breast Cancer (MCQ)

Question

A patient, a 30-year-old woman, with family history of her cousin and grandmother both had breast cancer, but they are on her father's side. Verifying her family history reveals that her paternal grandmother had breast cancer at age 50. A first cousin (daughter of her father's sister) was diagnosed with breast cancer a year ago at age 42. Her father is in good health at 62. She has two older sisters, aged 33 and 35 years, who are also worried about their risk.

What is the next step of choice?

  • A. Recommend a risk-reducing oophorectomy.
  • B. Recommend a risk-reducing mastectomy.
  • C. Measurement of serum CA-125 level on this patient.
  • D. BRCA1/ BRCA2 testing to this patient's first cousin who was diagnosed with breast cancer.
  • E. Prescribe prophylactic tamoxifen.

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Explanation

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers,

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.

A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.

In this family, the best person to undergo initial testing would be the patient's 43-year-old cousin, who was diagnosed with breast cancer at age 42.

It has been suggested that women with a BRCA2 mutation may benefit from treatment, but women with a BRCA1 mutation may not.

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