Patient Clinical Profile

  • Patient Age: 49
  • Gender: Male
  • Personal Clinical History: No personal history of cancer
  • Visit type: Pain radiating from upper thigh


Myriad myRisk® Panel Test Result:

Positive
BRCA2

 
Since the introduction of BRCA testing over 20 years ago, tremendous progress has been made in the awareness of the clinical significance of genetic testing to uncover the inherited risk of breast and ovarian cancer for patients with Hereditary Breast and Ovarian Cancer (HBOC) syndrome. This may be true for women at risk for breast and ovarian cancer, but little public attention has been given to men who can also be impacted by HBOC syndrome. The fact is, men with BRCA mutations have higher than average risk for developing not only breast cancer, but also prostate, pancreatic, and melanoma compared with the general population.2-6
Quick facts:

  • About 1 out of 5 men with breast cancer have a close relative, male or female, with the disease1
  • American Cancer Society estimates 161,360 new prostate cases in the US in 2017 with 26,730 deaths.7
  • About 5-10% of all prostate cancers are hereditary, due to genetic mutations passed down from either the father or the mother8
  • Children of men with BRCA mutations have a 50% chance of carrying the same gene mutation

Assessing your male patient’s hereditary cancer risk is equally important as it is for a female patient. Not only can this knowledge alter his personal medical management, but can have significant impact on the future of his family members, as demonstrated in this case study.

Mutations in the BRCA2 gene are associated with the following:

  • Up to 6.8 % risk for male breast cancer, compared to <0.1% for general population4
  • Up to 20% risk for prostate cancer, compared to 8.2% for general pppulation11
  • Up to 7% or higher risk for pancreatic cancer, depending on whether there is a family history of pancreatic cancer, compared to 1% for general population2,3
  • Elevated risk for melanomas of both the skin and eye5,6

Patient’s Family History

Relative Cancer Age of Dx
Mother Breast 44
Maternal Aunt Melanoma 45
Maternal Grandfather Pancreatic 62

After reviewing this patient’s symptoms and family history, his family physician was concerned with a possible prostate issue, which can be genetically linked to the cancers presented in his family history. This patient met NCCN BRCA testing criteria with having a first degree (mother) relative with breast cancer diagnosed ≤ age of 45 alone.9 In addition, he had a cluster of HBOC-related cancers (including melanoma & pancreatic). A Myriad myRisk® Hereditary Cancer test was ordered to rule out any hereditary causes and allow the physician to offer this patient the most informed medical management options.

After confirming this patient is a BRCA2 mutation carrier, the physician referred him to an urologist for further screening and ruled out prostate cancer as the cause of his symptoms. He also implemented other routine screening tests to help reduce his risk of developing cancers he did not even know he was at risk for prior to finding out his genetic status.

In addition to devising a personalized medical management plan for this patient, the physician also recommended genetic testing for his 24 year old pregnant daughter who was seen regularly by an ObGyn in the same facility. The daughter’s test result also came back positive for the same mutation. This means she has up to 84% lifetime risk of breast cancer, and up to 27% risk for ovarian cancer, in addition to the same elevated cancer risks for pancreatic & melanoma noted for her father. Instead of waiting until the age of 40 for her first mammogram, she can begin screening at a much younger age to help avoid a cancer diagnosis, along with other measures to keep her safe.


BRCA2 Cancer Risk Management Table for Male Patients

CANCER TYPE PROCEDURE
Prostate
  • Recommend prostate cancer screening starting at age 459
Pancreatic
  • Consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in the screening for pancreatic cancer, preferably within research protocols3
Male Breast
  • Monthly Breast self-examination & annual clinical breast examination starting at age 359
Melanoma
  • Consider whole-body skin and eye examinations9

Bottom Line

This case demonstrates the importance of a diagnostic test to stratify a patient’s risk to develop cancer and to modify their future management appropriately, regardless of a patient’s gender or the physician’s specialty. In fact, the US Preventive Services Task Force supports primary care providers performing genetic counseling for BRCA mutation testing as part of their recommendation issued in December, 2013.10 It is also important to remember that genes can pass down to children from either the father or mother. Knowing one’s genetic status can help multiple generations of family members follow the appropriate course to prevent a cancer diagnosis.

Utilize our Hereditary Cancer Quiz to quickly screen and identify patients at increased cancer risk.

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References

 

  1. https://www.cancer.org/cancer/breast-cancer-in-men/causes-risks-prevention/risk-factors.html
  2. van Asperen CJ, et al. Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON) . Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005 42:711-9. PMID: 16141007.
  3. Canto MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. PMID: 23135763..
  4. Tai YC, et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 99:1811-4. PMID:18042939.
  5. Gumaste PV, et al. Skin cancer risk in BRCA1/2 mutation carriers. Br J Dermatol. 2015 172:1498-506. Epub 2015 Apr 29.
  6. Moran A, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012 11:235-42.
  7. https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2017.html
  8. https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-genetics/genetic-counseling/inherited-risk-prostate
  9. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V 1.2017.
  10. Final Recommendation Statement: BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. U.S. Preventive Task Force. December 2013. Available at: http://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing?ds=1&s=BRCA
  11. Liede A, et al. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004 22:735-42

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