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What is hereditary breast and ovarian cancer (HBOC) syndrome, and how is it managed?

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Key concept

Around 5%–10% of cancers are hereditary. Genetic testing is helpful to identify high-risk patients and families who may benefit from increased screening, chemoprevention, and risk-reducing surgeries. HBOC is an autosomal dominant condition caused by a mutation in BRCA1 or BRCA2. Families with HBOC have combinations of breast, ovarian, prostate, and pancreatic cancers and possibly melanoma, sometimes at younger ages. These families are commonly Ashkenazi Jewish (carrier frequency of 1/40), but this is a differential diagnosis regardless of ancestry (1/400–1/800 in Europeans).

Clinical scenario

A 60-year-old woman with stage IV pancreatic cancer and a prior history of stage I invasive ductal carcinoma of the right breast at age 39, post-mastectomy, with a family history of ovarian cancer in paternal aunt at age 79 and a paternal male cousin with prostate cancer at age 65 through unaffected uncle. She has two daughters and wants to know whether her children need to get genetic testing.

Action items
  • Educated genetic counseling process: discussion between genetic counselor, patient, and physician about possible cancer risks and management prior to pursuing genetic testing for educated testing decision, including post-test counseling to discuss the management plan

  • Genetic testing to be offered to adults only (age 25 years, as screening begins at this age, although if family planning is earlier, may start as young as age 18 years)

  • Offer comprehensive testing to the patient first (prior to family): individuals affected with cancer are more informative testing candidates

    • This will likely include a panel to address breast, ovarian, and pancreatic gene overlap

  • Risk assessment: if the patient meets criteria for genetic testing, per NCCN guidelines, offer testing1

  • Management if results are positive1-7

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GENE LIFETIME CANCER RISK SPECIALIST MANAGEMENT
BRCA1/2 Female breast: 50%–87% Breast surgeon, breast medical oncologist OPTIONS:
↑ Surveillance: mammogram alternating with breast MRI every 6 mo
Risk reduction: chemoprevention, bilateral mastectomy
Second breast primary: 65%
Male breast: 6%–8% PCP Self breast and clinical breast exams every 12 mo at age 35, mammograms begin at age 40
BRCA1 Ovarian: 44% High-risk gynecologic oncologist ↑ Surveillance: Consider baseline CA125, TVUS at age 30
RECOMMENDATION: Bilateral salpingo-oophorectomy at age 35–40 (if post-bilateral mastectomy, complete at age 40–45)
BRCA2 Ovarian: 27%
BRCA1 Prostate: 16% PCP Annual prostate-specific antigen and digital rectal exam at age 40
BRCA2 Prostate: 20%–30%
BRCA1 Pancreas: 4% High-risk GI medical oncologist Consider pancreatic screening if meet CAPS3 and ACG criteria (based on family history of pancreatic cancer)
BRCA2 Pancreas: 5%–10%
BRCA1/2 Melanoma: 1%–6% Dermatologist Annual skin exam

Discussion

Patients with suspected hereditary conditions should meet with a genetic counselor and/or physician to pursue genetic counseling and testing (a blood test) to clarify their cancer risk management recommendations. There are several tests to choose from, and test selection should take into consideration ...

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