Eliciting a complete cancer family history and diagnosing patients with a genetic risk is a key component of precision medicine. Failure to assess a patient’s cancer family history and diagnose hereditary cancer status as a standard part of a routine workup can limit a healthcare provider’s ability to accurately diagnose and treat the patient from a medical, surgical, and screening perspective. Missing patients with a gene mutation and elevated cancer risks may lead to poor outcomes.

Overall, a missed diagnosis of hereditary cancer is a misdiagnosis. Incorporating a standard routine of obtaining cancer family history is a way to guarantee more favorable outcomes for patients.

There are real consequences and missed opportunities associated with not assessing hereditary cancer risk with patients.

Patients in Your Care Appropriate for Hereditary Cancer Testing

Patients in Your Care Appropriate for Hereditary Cancer Testing

An incomplete cancer family history will miss a significant number of patients at risk for cancer.

This was demonstrated in a recent poster presented at the 2014 ASCO annual meeting8 which reviewed 499 family histories to determine patient’s eligibility for advanced breast or colon cancer screening as well as further hereditary cancer risk assessment.

This study found that
  • 62% of patients appropriate for HBOC evaluation were missed due to incomplete cancer family history.
  • 67% of patients appropriate for Lynch evaluation were missed due to incomplete cancer family history.
Appropriate Patients Missed for Evaluation (%)
Looking at just the breast cancer cohort, which consisted of 282 patients, Solomon et al. found the following:
  • 63 patients were identified as appropriate for HBOC evaluation when data was collected on only first-degree relatives.
  • This means, 103 high patients were missed by not collecting cancer history of second- and third-degree relatives.

    • 51 additional patients were identified as appropriate for HBOC evaluation when the family history included second-degree relatives

      And another 52 additional patients were identified as appropriate for HBOC evaluation when the family history included third-degree relatives

The National Comprehensive Cancer Network (NCCN) recommends providers capture first-, second-, and third-degree relatives as part of a complete Cancer Family History. As demonstrated by Solomon et al, when a complete Cancer Family History is obtained and hereditary cancer risk assessment is employed, more appropriate patients are identified for further evaluation to determine their hereditary cancer risk.

Missed Patients for Risk Assessment

Making hereditary cancer testing standard of care in a practice will help avoid a misdiagnosis and potentially lead to better outcomes for patients.

Consider hereditary cancer risk while reviewing the following case ofa 51 year-old patient diagnosed with breast cancer.

Pedigree Chart

In this case we have a 51 year old female who presents with breast cancer. Noting her first-generation family history, it is found that her father had pancreatic cancer at age 55. With this information, this patient does not meet NCCN clinical criteria for hereditary cancer testing.

Expanding documented cancer family history to second-degree, it is now known that her paternal aunt was diagnosed with ovarian cancer at age 63 and her paternal grandmother was diagnosed with breast cancer at age 55.

With this documented second-degree family history information, this patient now meets NCCN genetic testing criteria for HBOC.

Unfortunately, this patient’s hereditary cancer risk was not assessed by either her surgeon or medical oncologist at the time of diagnosis. Creating a standardized protocol to assess hereditary cancer risk in every patient in a routine and consistent manner will reduce variability and make this information visible so providers can act to better manage their patients’ cancer risks.

Consider the following when thinking about possible recommendations associated with this patient’s hereditary cancer risk and breast cancer diagnosis:

  • Potential risk reducing mastectomy over lumpectomy as part of her treatment.
  • Possible recommendation of a risk-reducing bilateral salpingo-oophorectomy (BSO).
  • If breast conserving surgery is performed, consider chemoprevention options to reduce the risk of a second breast cancer.
  • Increased surveillance if breast conserving surgery is performed.

If a patient does not undergo a BSO, consider recommending annual transvaginal ultrasound and CA-125.


  1.  1  Based on the example, do you see the need to routinely record a thorough cancer family history for each patient and make appropriate genetic test recommendations?
  2.  2  If this patient was screened appropriately and received a hereditary test at the time of her breast cancer diagnosis to determine if a genetic mutation was the cause of her cancer, would this have modified the treatment plan?
  3.  3  If you did not screen for hereditary cancer risk and a patient does not receive an appropriate test, would you consider this a misdiagnosis?
Bottom Line:

A missed hereditary cancer diagnosis is a misdiagnosis with significant implications on patient outcomes. Societal guidelines recommend providers screen and test appropriate patients for hereditary cancer to mitigate the risks of a second primary cancer.

Take Action


  1. Bellcross CA et al. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genetics in Medicine. 2009;11:783-789.
  2. Eisenbraun et al. Hereditary Breast and Ovarian Cancer testing: integration and outcomes within community oncology practices. Comm Oncol. 2010;7:75-81.
  3. Grover S, et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clinical Gastroenterology and Hepatology 2004;2:813-19.
  4. Kerber RA, et al. Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database. Familial Cancer 2005;4:239-44.
  5. NCCN Clinical Practice Guidelines in Oncology v.1.2014 Genetic/Familial High-Risk Assessment: Colorectal. Accessed at www.nccn.org.
  6. NCCN Clinical Practice Guidelines in Oncology v.4.2013 Genetic/Familial High-Risk Assessment: Breast and Ovarian. Accessed at www.nccn.org and associate it with Ovarian cancer, Colorectal Cancer (Kerber), Screening Mammography (Bellcross)
  7. Pal T, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.Cancer. 2005 Dec 15;104(12):2807-16.
  8. Solomon, Benjamin et al. Contribution of Extended Family History in Assessment of Risk for Breast and Colon Cancer. Journal of Clinical Oncology32.5 (2014) Presented 2014 ASCO Annual Meeting (2014): 1564.
  9. Zhang S. et al. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol. 2011 May 1;121(2):352-7.

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