The Case of the Cancer Genetics Referral
Christina is a 29-year-old African American woman with a strong family history of breast and ovarian cancers and a personal history of benign ovarian fibroids. She was referred to your office because of a suspicious lump in her left breast.
Because of her family history, Christina is especially worried. You are concerned that Christina could have a hereditary family cancer syndrome, and you know that a comprehensive family history must be obtained.
What Would You Do?
Begin by conducting a family history that includes first-, second-, and third-degree relatives on both sides of the family. It should assess major health conditions, age when diseases developed, age and cause of death, ethnic backgrounds, pregnancy issues, and general family lifestyle. Nurses are at the forefront of patient assessment (https://doi.org/10.1188/16.ONF.519-523) and must ensure that accurate and current family health histories are obtained for all patients. Performing an in-depth, three-generation family history and personal health history not only helps patients identify their risk for hereditary cancer but is a key step in improving access to risk assessment and genetic testing (https://doi.org/10.1188/15.ONF.691-694).
General red flags (https://www.asco.org/practice-guidelines/cancer-care-initiatives/genetics-toolkit/understanding-hereditary-cancer-0) suggestive of a hereditary cancer syndrome and necessitate a referral (https://www.cancer.gov/about-cancer/causes-prevention/genetics/risk-assessment-pdq) to a genetics risk professional include:
- Early age of cancer onset
- Multiple generations affected with the same type or related cancers (e.g., breast and ovarian cancer)
- Bilateral cancer in paired organs or multifocal disease
- The same type of cancer in close relatives
- Multiple primary tumors (either in the same organ or two different organs)
- Rare tumor types (e.g., retinoblastoma)
- Unusual presentation of cancer (e.g., male breast cancer)
- Uncommon tumor histology (e.g., medullary thyroid carcinoma)
- Rare cancers associated with birth defects (e.g., Wilms tumor)
- Geographic or ethnic populations known to be at high risk of hereditary cancers (e.g., Ashkenazi heritage).
You perform a comprehensive family history on Christina and it reveals that her mother was diagnosed with right-sided breast cancer and Paget disease at age 39. Her mother also had an abnormal mammogram resulting in a mastectomy of the other breast at age 51. At that time, her mother tested negative for a BRCA mutation. Christina’s maternal grandfather was diagnosed with breast cancer at age 89 and was found to be positive for BRCA2 mutation. Her maternal grandfather’s sisters were tested and both found to carry the BRCA2 mutation. One was diagnosed with breast cancer at age 80 and the other with pancreatic cancer at age 84. Christina’s two maternal aunts were tested and one was positive for BRCA2 mutation.
The National Comprehensive Cancer Network guidelines (https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf) list criteria for genetic risk evaluation in breast or ovarian cancer. Based on the NCCN criteria, Christina would require referral to a cancer genetics professional because of her family history of BRCA2 mutations; having at least two relatives (mother and maternal great aunt) with breast cancer, one who was diagnosed at younger than 50 years; and having a maternal grandfather with breast cancer.
Note. This case study was adapted from the Oncology Nurse Navigation Case Studies book (http://www.ons.org/store/books/oncology-nurse-navigation-case-studies), “Case 4: Ethics: Supporting the Family Journey.”