Question 146

Question:

A 40-year-old woman presents to her primary care physician with a lump in the upper outer quadrant of her left breast. She is diagnosed with invasive breast cancer. Her family history indicates that her mother was diagnosed with breast cancer at age 38, her aunt was diagnosed with ovarian cancer, and a maternal uncle also had breast cancer. The inherited mutation results in alterations in which cellular process?

Correct Answer: B.  DNA repair

The high frequency, low age of onset, and presence of male breast cancer point to an inherited breast cancer syndrome. The addition of ovarian cancer makes it more likely that this is a mutation in BRCA1 or BRCA2, both of which are involved in DNA repair (B). Mutations in Rb will cause alterations in cell cycle checkpoints (A) and are associated with retinoblastoma. Somatic mutations in genes involved in mitogenesis (C) are related to cancer, but there are no germ-line mutations related to breast cancer. Mutations in synthesis of the DNA bases (D), such as in orotic aciduria will result in immunodeficiency, not cancer. Alterations in telomere maintenance (E) are involved in the immortalization of cancers, but again there is no hereditary cancer syndrome associated with altered telomere maintenance.