BRCA2 gene. Associated Syndrome Name: Hereditary Breast and Ovarian Cancer syndrome (HBOC) BRCA2 Summary Cancer Risk Table. BRCA2 gene Overview

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1 BRCA gene Associated Syndrome Name: Hereditary Breast and Cancer syndrome (HBOC) BRCA Summary Cancer Risk Table Male Breast GENETIC RISK Female Breast Elevated Risk Elevated Risk BRCA gene Overview Hereditary Breast and Cancer syndrome (HBOC) Individuals with mutations in BRCA have a condition called Hereditary Breast and Cancer syndrome (HBOC). Women with HBOC have a risk for breast cancer that is greatly increased over the.5% lifetime risk for women in the general population of the United States. Women with HBOC also have high risks for ovarian, fallopian tube, and primary peritoneal cancer. Men with HBOC due to mutations in BRCA have a high risk for breast cancer and an elevated risk for prostate cancer. The increase in prostate cancer risk is most significant at younger ages. Male and female patients with HBOC due to a mutation in BRCA also have a high risk for pancreatic cancer and an elevated risk for melanomas of both the skin and eyes. Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing many of these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) for the medical management of patients with HBOC are listed below. It is recommended that patients with BRCA mutations and a diagnosis of HBOC be managed by a multidisciplinary team with experience in the prevention and treatment of the cancers associated with HBOC. BRCA gene Cancer Risk Table Female Breast AGE RANGE To age 50 3, 4 RISK RISK FOR GENERAL POPULATION 3%-8%.9% 43%-84% 7.%

2 AGE RANGE Second primary within 5 years of first breast 6 cancer diagnosis To age 50 cancer within 0 years of a breast cancer 7 diagnosis To age 80 Male Breast To age 80 8, 9 0, 3, 4 RISK RISK FOR GENERAL POPULATION % % 0.4%-4% 0.% 6.5%-7% 0.7% 6.8% <.0% 7%, or higher if there is a family history of pancreatic cancer. % 6.8% <0.% 0% 6.6% Elevated risk for melanomas of both the skin and eye.6% BRCA Cancer Risk Management Table The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details and up-to-date information before developing a treatment plan for a particular patient. This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient's personal medical history, surgeries and other treatments. Female Breast Breast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self examination (BSE) may facilitate breast awareness. Clinical breast examination 8 years 5 years Every 6 to months

3 Breast MRI with contrast and/or Mammography Age 5 for MRI (preferred) or mammography. Age 30 for both MRI and mammography. Individualize to a younger age if a relative has been diagnosed younger than age 30. Annually Consider risk-reducing mastectomy. Consider options for breast cancer risk-reduction agents (i.e. tamoxifen). Bilateral salpingo-oophorectomy 35 to 40 years, upon completion of childbearing, or 40 to 45 for women who have already maximized their breast cancer risk prevention Consider transvaginal ultrasound and CA-5 measurement. Consider investigational screening studies within clinical trials. 30 to 35 years Consider options for ovarian cancer risk-reduction, 5 agents (i.e. oral contraceptives). For patients with a family history of pancreatic cancer, 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 9 research protocols. Male Breast Breast self-examination 35 years Monthly 35 years Annually 45 years Consider investigational screening studies within clinical trials. Clinical breast examination 3 Recommend prostate cancer screening.

4 Consider whole-body skin and eye examinations. Information for Family Members The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the BRCA gene. A major potential benefit of myrisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions. In rare instances, an individual may inherit mutations in both copies of the BRCA gene, leading to the condition Fanconi Anemia, Complementation Group D (FANCD). This condition is rare and includes physical abnormalities, growth retardation, progressive bone marrow failure and a high risk for cancer. The children of this patient are at risk of inheriting FANCD only if the other parent is also a carrier of a BRCA mutation. Screening the spouse/partner 6 of this patient for BRCA mutations may be appropriate. References. Daly M et al. NCCN Clinical Practice Guidelines in Oncology : Genetic/Familial High-Risk Assessment: Breast and. V.07. December 7. Available at Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on --07) 3. Ford D, et al. Genetic heterogeneity and penetrance analysis of the BRCA and BRCA genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet : PMID: Chen S, et al. Characterization of BRCA and BRCA mutations in a large United States sample. J Clin Oncol : PMID: Mavaddat N, et al. Cancer risks for BRCA and BRCA mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst :8-. PMID: Verhoog LC, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA. J Clin Oncol : PMID: Metcalfe KA, et al. The risk of ovarian cancer after breast cancer in BRCA and BRCA carriers. Gynecol Oncol :-6. PMID: van Asperen CJ, et al. Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON). Cancer risks in BRCA families: estimates for sites other than breast and ovary. J Med Genet :7-9. PMID: 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. 03 6: PMID:

5 0. Tai YC, et al. Breast cancer risk among male BRCA and BRCA mutation carriers. J Natl Cancer Inst :8-4. PMID: Struewing JP, et al. The risk of cancer associated with specific mutations of BRCA and BRCA among Ashkenazi Jews. N Engl J Med :40-8. PMID: Liede A, et al. Cancer risks for male carriers of germline mutations in BRCA or BRCA: a review of the literature. J Clin Oncol. 004 : PMID: Gumaste PV, et al. Skin cancer risk in BRCA/ mutation carriers. Br J Dermatol. 05 7: PMID: Moran A, et al. Risk of cancer other than breast or ovarian in individuals with BRCA and BRCA mutations. Fam Cancer. 0 :35-4. PMID: Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology Genetic/Familial High-Risk Assessment: Colorectal. V.07. June 5. Available at 6. Mehta PA, Tolar J. Fanconi Anemia. 06 Sep. In: Pagon RA, et al., editors. GeneReviews [Internet]. Available from PMID: Last Updated on 3-Aug-07 5

PMS2 gene. Associated Syndrome Name: Lynch syndrome/hereditary NonPolyposis Colorectal Cancer (HNPCC) PMS2 Summary Cancer Risk Table

PMS2 gene. Associated Syndrome Name: Lynch syndrome/hereditary NonPolyposis Colorectal Cancer (HNPCC) PMS2 Summary Cancer Risk Table PMS2 gene Associated Syndrome Name: Lynch syndrome/hereditary NonPolyposis Colorectal Cancer (HNPCC) PMS2 Summary Cancer Risk Table CANCER Colorectal GENETIC CANCER RISK High Risk Endometrial High Risk