Panel testing increases number of women identified as carrying PV compared with BRCA testing alone.

“[…] panel testing increased the number of women identified as carrying a PV [pathogenic variant] in this cohort compared with BRCA testing alone. Furthermore, the proportion of women identified who carried a PV in this cohort did not decrease between ages 40 and 59 years.”

Buys SS, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 2017. 123(10): 1721-30. doi:10.1002/cncr.30498.

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Pathogenic variants in BRCA1 and BRCA2 confer 3.8- to 8.4-fold increased risk for prostate cancer.

“Genetic test results are uncovering additional cancer risks for men and their families. Risks for colon cancer, pancreatic cancer, melanoma, and male breast cancer in men with or at risk for [prostate cancer] have been identified, which necessitates guidelines-based screening/management or referral for discussion of screening options. Furthermore, male and female blood relatives […] now have insight into which specific mutations may predispose to cancer risk in their family and can pursue site-specific mutation testing through guidelines-based cancer screening approaches.”

Giri VN, Obeid E, Gross L, et al. Inherited mutations in men undergoing multigene panel testing for prostate cancer: emerging implications for personalized prostate cancer genetic evaluation [published online May 4, 2017]. JCO Prec Oncol. doi: 10.1200/PO.16.00039.

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38.8% of pathogenic variants are identified in ATM, CHEK2 or PALB2, increasing the number of women who are potential candidates for breast MRI or other risk reduction measures.

“Expanding genetic testing beyond BRCA1/2 significantly increases the number of women who are candidates for breast MRI and other risk reduction measures, most of whom would not have been identified through family history assessment.”

Rosenthal ET, et al. Increased identification of candidates for high-risk breast cancer screening through expanded genetic testing. J Am Coll Radiol 2017; 14:561-8. doi:10.1016/j.jacr.2016.10.003.

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Multi-gene panel testing provides additional information that may improve patient outcomes.

“We performed a retrospective review of consecutive patients undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 patients were referred for genetic testing based on National Comprehensive Cancer Network guidelines. Testing was completed in 90 patients. Overall, nine (10%) pathogenic mutations were identified: five BRCA1/2, and four in non-BRCA loci. Single-site testing identified one BRCA1 and one BRCA2 mutation. The remaining mutations were identified by use of panel testing for hereditary breast and ovarian cancer. […] The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone.”

Howarth DR, et al. Initial results of multigene panel testing for hereditary breast and ovarian cancer and Lynch syndrome. Am Surg 2015 Oct; 81(10):941-4.

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Patients with hereditary cancer syndromes are at high risk for a second primary cancer.

“Of patients with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome (LS), 56 and 65.2%, respectively, met the National Comprehensive Cancer Network guidelines for hereditary cancer testing after their initial diagnosis based on their personal cancer history alone. A substantial number of women tested for LS or HBOC after being diagnosed with two successive primary cancers were diagnosed with a hereditary cancer syndrome. In many cases, the time interval between the diagnoses was long enough to allow for the implementation of surveillance and/or prophylactic measures.”

Saam J, et al. Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis. Oncology 2015;

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Multigene testing is likely to alter cancer risk assessment, clinical management, and familial testing recommendations.

“Multigene panel testing for patients with suspected HBOC risk identifies substantially more individuals with relevant cancer risk gene mutations than does BRCA1/2 testing alone. Identifying such mutations is likely to change management for the majority of these individuals and their families in the near term, and in the long term should lead to development of effective management guidelines and improved outcomes for at-risk individuals.”

Desmond A, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 2015; 1(7):943-951.

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Medical management changes occurred 77.8% of the time after a myRisk positive result and 25.3% after a negative result.

“Integrating personal and family cancer history identified during the screening process with genetic test results can offer refined management recommendations. Over 74% of physicians used both the genetic test result and the personal and family cancer history from the myRisk management tool (MMT) to make management decisions.”

Langer LR, et al. 25-Gene panel testing and integrated risk management tool impacts medical management in hereditary cancer syndrome evaluation. Scientific poster presented at the American Society for Clinical Oncology Annual Meeting in Chicago, IL, June 2014.

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