Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation.

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Esmond Elliott
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1 Allina Breast Program Committee Consensus Guidelines These guidelines apply to clinical interventions that have well-documented outcomes, but whose outcomes are not clearly desirable to all patients Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation. Approved By: Allina Breast Program Committee Date of Approval: June 6, 2012 Effective Date: April 23, 2012 Revision Due Date: June 2017 Reapproved: June 6, 2014 RECOMMENDATIONS: The following are minimal criteria, mostly prescribed by the National Comprehensive Cancer Network (NCCN) for consideration of BRCA 1 and BRCA 2 testing *, **. We plan to track a subset of patients who meet criteria based on their diagnoses alone via the tumor registry as a measure of quality in this regard. The following individuals should be referred to a genetic counselor for further evaluation: With or without personal history of breast cancer AND: Individual from family with known deleterious mutation (typically site specific testing alone is warranted unless there is evidence of more than one heritable risk) Any male with breast cancer Any woman with an epithelial *** ovarian/ fallopian tube/primary peritoneal cancer Personal history of pancreatic cancer (adenocarcinoma) OR high grade prostate cancer (gleason 7) at any age with 2 relatives with breast and/or epithelial ** ovarian/ fallopian tube/primary peritoneal cancer and/or pancreatic cancer at any age and/or high grade prostate cancer. Personal history of breast cancer AND one or more than one of the following: Diagnosis age 45 Diagnosis any age with at least one relative with breast cancer 50 and/or epithelial *** ovarian/ fallopian tube/primary peritoneal 2 primary breast cancers with first occurring age 50

2 Diagnosis age 60 with triple negative cancer (1,2) Diagnosis age 50 with limited family structure (requires complete pedigree to demonstrate <2 unaffected females 45 or older in either lineage)(3) Diagnosis at any age with 2 close relatives with breast cancer and/or epithelial ** ovarian/ fallopian tube/primary peritoneal at any age, pancreatic adenocarcinoma or high grade prostate cancer (gleason 7). Close male relative with breast cancer No additional history required IF Ashkenazi Jewish or of other ethnicity associated with higher mutation frequency/founder mutations( Testing should involve founder mutation testing first; may consider reflex to comprehensive gene testing IF pt would meet criteria in absence of ancestry) Diagnosis at any age with 2 relatives with pancreatic cancer at any age Unaffected: Family History only **** ( not covered by Medicare) First or second degree relative meeting one of the above criteria *One or more of the above criteria are suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation. Some who meet criteria MAY still not be good candidates for testing, as sporadic cancers can occur in HBOC families and/or results may not impact medical management. Also, Medicare will not pay for testing on someone without cancer. A close relative per NCCN is a first, second or third degree relative. Medicare concurs but most insurers consider this first and second degree only. The maternal and paternal sides should be considered independently. ** Testing recommended (unless otherwise stated) is comprehensive sequencing and comprehensive duplication/deletion/rearrangement test; although Medicare and some insurance may not cover the latter. ***Mucinous and borderline tumors are only rarely BRCA related (4). ****No true negative for breast cancer risk without known mutation in affected relatives BUT without mutation or family history of ovarian cancer. The literature suggests no evidence of high risk for ovarian cancer in familial non-brca families (5); mutations in BRCA 1 and 2 mutations account for only about half of heritable breast cancer and may want to consider other breast cancer genes (see Special Entities section below). SCOPE: Sites, Facilities, Business Units All Allina Health Hospitals and Clinics (Abbott Northwestern, Departments, Divisions, Operational Areas Oncology, Primary care, OB/GYN VPCI People applicable to (MD, NP, Administration, Contractors etc.) MDs, Genetic counselors, NPs, RNs; Care Coordinators

3 United, Mercy, Unity, River Falls, New Ulm, Buffalo, Cambridge) OVERVIEW AND SUPPORTING EVIDENCE: A growing body of evidence supports the benefits of genetic risk assessment, genetic testing and the efficacy of clinical management in those with a variety of inherited cancer syndromes, including hereditary breast and ovarian cancer syndrome. The United States Preventive Services Task Force (USPSTF) recommended genetic risk assessment and evaluation fro BRCA 1 and 2 testing for unaffected individuals at elevated risk of hereditary breast and ovarian cancer syndrome (HBOC) based on specific family history criteria (6), while at VPCI we have adopted the NCCN guidelines in our practice (7). While mutations in these 2 genes account for only about 5% of all breast cancer and 14% of all ovarian cancer, a survival analysis of BRCA 1 and BRCA 2 carriers revealed that prophylactic surgery confers a substantial survival probability (8). The results may have a clear impact on breast screening, as noted by the American Cancer Society (ACS) in 2007 (9). Even in the absence of a BRCA 1 or BRCA 2 mutation, substantial breast risks may still exist unless a familial mutation has been excluded and high risk management may still be appropriate, as outlined by ACS. This is because of the limits of testing and the existence of other susceptibility genes (see Special Entities). Models such as BRCAPRO, Boadicea, Claus, and Cuzick-Tyrer all may be helpful, IF properly employed and with a clear understanding of the strengths and limits of each model. Genetic counseling can help in this regard. SPECIAL ENTITIES: CONSIDER OTHER BREAST CANCER GENES: Mutations in BRCA 1 and 2 account for only about half of heritable breast cancer so consideration of other gene testing should be entertained depending on histology, personal and family history, technology available and impact on management. TP53: consider with breast cancer diagnosis age 35(and BRCA negative) and/or family history suggestive of Li Fraumeni syndrome e.g. close relative with sarcoma, brain tumor, adrenal cortical tumor diagnosis <46-56 (10, 7) PTEN: breast cancer + macrocephaly; breast cancer + at least 2 of the following: follicular thyroid cancer, renal cancer, uterine cancer, hamartomatous polyps etc (11, 7)

4 CDH1: lobular breast cancer + family history of diffuse gastric cancer STK11: breast cancer + diagnosis criteria for Peutz-Jeghers syndrome (NCCN) Genomics: Moderate risk breast cancer genes (high with some alleles) many insurance companies consider this research. PALB2 (breast + pancreatic cancer) CHEK2 (bilateral breast cancer, male breast cancer, colon cancer) ATM Whole Exome/genome sequencing; gene panels: now (14 gene panel by Ambry may account for another 12-30% of familial cluster) and within 5 years whole exome and gene sequencing is likely. REFERENCES: 1. Kwon JS, Gutierrez-Barrera AM, Young D, et al. Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol 2010;28(27) Gonzalez-Angulo AM,Timms KM, Liu S, et al. Incidence and Outcome of BRCA Mutations in Unselected Patients with Triple Receptor-Negative Breast Cancer. Clin.Cancer Res 2011;17(5): Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 2007;297(23): Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005;104(12): Kauff ND, Mitra N, Robson ME, et al. Risk of ovarian cancer in BRCA1 and BRCA2 mutationnegative hereditary breast cancer families. J Natl Cancer Inst 2005; 97(18): U.S. Preventative Services Task Force. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement. Ann Intern Med 2005;143(5): National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Guidelines Version

5 8. Domcheck SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304(9): Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007;57(2): Tinat J, Bougeard G, Baert-Desurmont S, et al version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 2009;27(26):e108-e Tan MH, Mester JL, Ngeow J, et al. Lifetime Cancer Risks in Individuals with Germline PTEN Mutations. Clin Cancer Res 2012;18(2):400-7.

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016 Oncology Service Line-Allina Health System-wide Consensus Guidelines: Identification of Breast Cancer Patients at Risk for Inherited Cancer Risks These guidelines apply to clinical interventions that have