Approximately 53,000 new cases of pancreatic cancer are diagnosed in the U.S. each year, some of which are caused by inherited gene mutations.1 Pancreatic cancer is associated with multiple hereditary cancer syndromes, but when it is the predominant cancer within a family, the most common known hereditary causes are mutations in the PALB2, BRCA2 or p16 genes.
Who Should Be Tested for Hereditary Pancreatic Cancer
Because pancreatic cancer can be seen in multiple hereditary cancer syndromes, it is it is important to consider a patient’s complete personal and family history when evaluating which genetic syndrome may be most likely. The Myriad myRisk® gene panel test has the advantage of being able to test for many of the genes associated with several syndromes concurrently. Knowing the potential risk for hereditary pancreatic cancer can help you and your patient make better, more informed decisions about your patient’s health, before the onset of cancer or before a second cancer has had a chance to develop.
Genetic testing for hereditary pancreatic cancer should be considered if:*
- Has or has had pancreatic cancer and has at least one close relative** with pancreatic cancer2-7
- Has two or more close relatives** with pancreatic cancer
- Has a personal or family history of other cancers in addition to pancreatic, including breast, ovarian and melanoma8-10
- There is a known history of a previously identified PALB2, BRCA2 or or p16 mutation in the family11-17
You can use the Myriad Hereditary Cancer Quiz as a tool to help you identify patients who may benefit from hereditary cancer testing.
Using the Results of Hereditary Cancer Testing to Reduce Pancreatic Cancer Risk
If hereditary cancer testing confirms the presence of a PALB2, BRCA2 or other gene mutation, the following medical management options may help reduce cancer risk and either delay the onset of cancer, detect the disease at an earlier, more treatable stage or even prevent it.
- Targeted screening and surveillance for pancreatic cancer
- Improved compliance with tailored screening recommendations and preventive measures
- Improved outcomes through prevention, earlier diagnosis and treatment of specific cancers, including breast, ovarian and melanoma
- Counseling for those who carry the mutation and their family members on the underlying cause of the cancer
Using Hereditary Cancer Testing Results to Improve Patient Care
Hereditary cancer gene panel testing results can assist you in developing personalized medical management plans that improve patient care by:
- Targeting screening and surveillance specifically to individuals with a BRCA2, PALB2, p16 or other gene mutation
- Increasing surveillance for melanoma and providing strategies for avoiding UV exposure for patients with p16 gene mutations
- Improving patients and families’ compliance with tailored screening recommendations and preventive measures
- Improving outcomes through prevention, earlier diagnosis and treatment of specific cancers, should they develop
- Counselling patients and their families on the underlying cause of hereditary mutation-related cancers and how this affects their cancer risk
- Avoiding unnecessary interventions for family members who do not test positive for the mutation known to be in the family
*Assessment criteria are based on scientific literature and individual medical society guidelines.
**Close refers to first- or second-degree relatives. First-degree relatives include parents, siblings and children. Second-degree relatives include grandparents, aunts/uncles and nieces/nephews.
†Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, all medical management decisions should be made based on consultation between each patient and his or her healthcare professional.
1. American Cancer Society. Pancreatic Cancer. Available at http://www.cancer.org/cancer/pancreaticcancer/detailedguide/pancreatic-cancer-key-statistics.
2. Jones S, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324(5924):217
3. Slater EP, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet 2010;78:490-4
4. Tischkowitz MD, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 2009;137(3):1183-6.
5. Couch FJ, et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2007;16(2):342-6.
6. Hahn SA, et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003;95(3):214-21.
7. Murphy KM, et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002;62(13):3789-93.
8. Ozcelik H, et al. Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 1997;16(1):17-8.
9. Lal G, et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germline p16, BRCA1 and BRCA2 mutations. Cancer Res 2000;60(2):409-16.
10. Ferrone CR, et al. BRCA Germline mutations in Jewish patients with pancreatic adenocarcinoma. J Clin Oncol 2009;27(3):433-8.
11. U.S. Preventive Services Task Force (USPSTF). Geneti c risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. Ann Intern Med 2005;143(5):355-61. Available at: http://www.uspreventiveservicestaskforce.org/uspstf/uspsbrgen.htm
12. American Society of Breast Surgeons Official Statement, BRCA Genetic Testing for Patients With and Without Breast Cancer, 2006. Available at: http://www.breastsurgeons.org/statements/index.php
13. Lancaster JM, et al. Society of Gynecologic Oncologists (SGO) Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. Gynecol Oncol 2007;107(2):159-62. Available at: http://www.sgo.org/WorkArea/showcontent.aspx?id=882
14. American College of Medical Genetics Foundation. Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, counseling, and testing guidelines. 1999 (copyright is 2005). Available at: http://www.ncbi.nlm.nih.gov/books/NBK56955/
15. American College of Obstetricians and Gynecologists Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome. Gynecol Oncol 2009;113(1):6-11. Available at: http://www.acog.org/About-ACOG/ACOG-Districts/District-II/Ovarian-Cancer
16. Daly MB, et al. (2015) NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment Breast and Ovarian, V.2.2015. J Natl Compr Canc Netw Available t:http://www.nccn.org/professionals/physician_gls/f_guidelines.asp
17. Bevers TB, et al. (2015) NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Screening and Diagnosis, BSCR-1-3, V.1.2015. J Natl Compr Canc Netw. Available at: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp