Background: The National Comprehensive Cancer Network® (NCCN) is an alliance of leading cancer centers devoted to patient care, research and education. NCCN Practice Guidelines are the widely recognized and frequently updated, evidence-based recommendations developed by expert panels within these institutions. NCCN recently released the latest version of their hereditary breast and ovarian cancer practice guideline (Genetic/Familial High Risk Assessment: Breast and Ovarian. Version 2.2016).1
Multi-gene Panels: Since 2014, NCCN guidelines have recognized the impact that multi-gene panel testing has in changing the clinical approach to testing at-risk individuals. NCCN acknowledges that:
- Panel testing may be a cost effective and efficient option, especially for individuals who have personal/family histories that are suspicious for more than one hereditary cancer syndrome
- Panel testing may be appropriate for patients who tested negative on single syndrome testing and have an unexplained personal/ family history of cancer
- Given the fact that commercially available tests differ in many ways (including genes analyzed and variant classification), clinician diligence is necessary in laboratory and gene panel selection
Medical Management: In 2016, NCCN updated medical management guidelines for several genes and notably, they included new guidelines for several moderate risk genes included on the Myriad myRisk® Hereditary Cancer panel:
- NCCN still recommends risk-reducing salpingo-oophorectomy between the ages of 35-40 and upon completion of childbirth for BRCA1/BRCA2 However, the current version states that it is reasonable for BRCA2 carriers who have undergone bilateral mastectomy to delay oophorectomy until 40-45 years, since the average age of onset of ovarian cancer in BRCA2 mutation carriers is 8-10 years later than in the BRCA1 population.
- Discuss the option of risk-reducing mastectomy for PALB2 mutation carriers.
- Recommend/consider risk-reducing salpingo-oophorectomy (RRSO) for BRIP1,RAD51C, and RAD51D mutation carriers.
Below are the most up-to-date cancer risks associated with these genes. Visit themyRisk® Gene Tables for a full list of gene-related cancer risks and clinical references.
|BRCA2||16.5-27%*||43-84%*||7% or greater if there is family history of pancreatic cancer**|
|PALB2||__||17 – 58%*||Elevated**|
|BRIP1||5.8%**||10 – 20%, or higher**||__|
Bottom Line: The field of genetics and management guidelines for mutation carriers are continually evolving. NCCN guidelines are updated annually and in 2016, they have provided additional guidance for genes included on the Myriad myRisk® Hereditary Cancer panel. Myriad is committed to helping you make tailored management recommendations for your patients based on their genetic status and current medical guidelines; these updates will be reflected in all applicable newly reported myRisk®Medical Management tools.
Clinical tools for patient risk identification and medical management:
- National Comprehensive Cancer Network. “NCCN Clinical Practice Guidelines in Oncology®Genetic/Familial High-Risk Assessment: Breast and Ovarian” Version 2.2016. Available at:http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf – Accessed 3/29/2016