patient information Genetic Testing for Hereditary Ovarian, Uterine and Breast Cancer Q&A ovanext

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1 patient information Genetic Testing for Hereditary Ovarian, Uterine and Breast Cancer Q&A ovanet

2 What is hereditary cancer? A majority of cancers including ovarian, uterine and breast cancer occur in individuals without a previous family history of cancer. However, up to 10% of uterine and breast cancer cases and up to 25% of ovarian cancer cases have an underlying hereditary cause. 1-7 In these cases, an inherited change (or mutation) in a gene can be passed from one generation to the net and can significantly increase an individual s lifetime cancer risk. Additional contributors can include environmental factors and lifestyle choices. Understanding the underlying genetic contribution to hereditary cancers can give insight to individual and familial risk. This can be especially important for cancer survivors, as knowing a molecular diagnosis can help doctors plan for continued cancer surveillance and risk-reducing strategies. what might raise my ovarian, uterine or breast cancer risk? 8,9 Risk Factors Ovarian Cancer Uterine Cancer Breast Cancer ETHNICITY - African American, Asian & Hispanic women are more likely to develop cancer <45-years-of-age PERSONAL MEDICAL HISTORY - Lobular carcinoma in situ, proliferative breast disease (e.g. usual or atypical hyperplasia), dense breast tissue - Polycystic Ovary syndrome - Type 2 Diabetes FAMILY HISTORY - Genetic mutations (syndrome specific) - Risk doubles for those with one affected first-degree relative* - Risk increases up to 9.4% with multiple affected first-degree relatives* REPRODUCTIVE FACTORS - Early menarche (<12-years) and/or late menopause - No prior successful pregnancies and/or use of fertility medication > 1 year - Use of estrogen for HRT without progesterone** LIFESTYLE CHOICES - Consuming 2-5 alcoholic drinks a day increases risk by 1% above the general population - Lack of physical activity and/or BMI>30 Research highlights several factors that can increase an individual s risk to develop uterine, ovarian or breast cancer. The risk factors described above apply to only females and can increase after 50-years-of age. Individuals of Ashkenazi Jewish descent have a higher chance of being a mutation carrier that can predispose to certain types of cancer. *A first-degree relative is a sibling or parent. **Applies to women underoing hormone replacement therapy (HRT) with an intact uterus.

3 why get a genetic test? Hereditary cancers can occur earlier in life as a result of inherited mutations. These mutations can predispose to more than one type of cancer and it is important to know your genetic testing options as early as possible in order to help guide management and predict risk to other family members. A consultation with a cancer specialist and genetics professional can be especially helpful. what is ovanet? OvaNet is a genetic test provided by Ambry Genetics that utilizes netgeneration sequencing technology to analyze nineteen genes associated with an increased risk for breast, ovarian and/or uterine cancers. These genes are analyzed simultaneously, reducing cost and time. is ovanet right for me? OvaNet may be appropriate for individuals with a personal or family history of the following: Ovarian cancer at any age Ovarian or uterine cancer along with other primary cancers (e.g. ovarian, breast, colorectal and others) Early-onset breast cancer when there is a family history of ovarian, uterine or other cancers Previous genetic testing was either negative or identified a variant of unknown significance (VUS) (e.g. negative BRCA1/2 or Lynch syndrome genes) ovanet genes and their known associations by cancer type BARD1 RAD51C RAD50 BRIP1 NBN MRE11A PALB2 MUTYH STK11 breast CDH1 ATM ovarian TP53 CHEK2 PTEN MLH1* MSH2* MSH6* PMS2* EPCAM uterine personal notes The OvaNet panel analyzes genes that contribute to an increased risk for ovarian, uterine and/or breast cancer. Gene-specific associations are depicted above by cancer type. Most genes are known to be associated with more than one cancer type including those not depicted in the diagram. *Recent literature suggests an increased incidence of breast cancer among individuals with mutations in the Lynch syndrome genes, MLH1, MSH2, MSH6 and PMS2.

4 what are the benefits of ovanet testing? additional considerations family history questions questions to consider throughout the diagnostic process Eplaining a personal or family history of cancer Guiding cancer screening and tailoring risk management Identifying risks for additional cancers In some cases reducing unnecessary screening for family members who do not have a mutation (in some cases) As genetic testing is entering the mainstream of diagnostic medicine, certain laws have been put in place to protect the use of patient genetic information. The most significant is perhaps the Genetic Information Nondiscrimination Act (GINA) of 2008, a federal law that prevents health insurance companies and employers from discriminating based on genetic information. Was anyone in your family diagnosed with cancer? Relation to you Type/location of cancer Does my future cancer risk vary depending on the genetic mutation? Will knowing the genetic mutation help determine the cancer risk for my family? Treatment How will knowing the genetic mutation change my management options? what can my genetic test reveal? An individual undergoing genetic testing can receive three possible results: a negative, a positive or a variant of unknown significance. negative positive variant Did anyone undergo preventative surgery (e.g. removal of uterus or ovaries)? If yes, who and for what reason? What is the most appropriate screening protocol for me? Disease-causing genetic Disease-causing genetic Genetic change was identified change is not identified change is identified but current knowledge Cancer risk is based on personal and family history Increased risk for cancer(s) is gene-specific can t predict if the change is disease-causing Family research studies may be recommended Cancer risk is based on Did anyone have previous genetic analysis? If yes, what were the results? When should my children begin their screening? personal and family history

5 will insurance cover ovanet testing? Ambry Genetics works closely with insurance companies through a pre-verification process. For more detailed information please visit ambrygen.com/billing support groups Support groups can build a sense of community and aid in answering some of the everyday questions. references 1. Walsh T, et al. PNAS. 2011; 108: Daniels M, et al. The Can J. 2012; 18: Ballinger L. Obstet Gyn Clin N Am. 2012; 39: Groep P, et al. Cell Oncol. 2011; 34: Gage M, et al. J Sur Onc. 2012; 105: Ripperger T, et al. Eur J Hum Gen. 2009; 17: Pennington K, et al. Cancer. 2012; doi: /cncr Ballinger L. Obst Gyn Clin N Am. 2012; 39: These include: ovarian.org ovariancancer.org lynchcancers.org brightpink.org facingourrisk.org To learn more visit ambrygen.com 15 Argonaut Aliso Viejo, CA (866) D a-MKG-01