GYNplus genetic testing for hereditary ovarian and/or uterine cancer
What Are the Causes of Hereditary Ovarian and Uterine Cancer? uterine cancer ovarian cancer sporadic 70-80% hereditary 5% Lynch syndrome is the most common type of inherited uterine cancer sporadic 75-90% hereditary 10-25% BRCA1 and BRCA2 mutations cause 50-75% of inherited ovarian cancer
GYNplus: Genes and Associated Cancers BRIP1 BRCA1/BRCA2 MLH1, MSH2, MSH6, PMS2, EPCAM PALB2 PTEN RAD51C RAD51D TP53 Hereditary breast and ovarian cancer Lynch syndrome Cowden syndrome Li-Fraumeni syndrome Breast Ovarian Breast Ovarian Pancreatic Prostate Melanoma Colorectal Uterine Stomach Ovarian Small bowel Hepatobiliary tract Upper urinary tract Brain Pancreatic Sebaceous Prostate Breast Ovarian Pancreatic Male Breast Prostate (possible) Breast Thyroid Uterine Colorectal Kidney Melanoma Breast Ovarian Breast Ovarian Prostate Breast Cancer Sarcoma Brain Cancer Adrenocortical carcinoma Leukemia Gastrointestinal Genitourinary
Lifetime Ovarian and/or Uterine Cancer Risks with GYNplus Gene Mutations (%) 100 90 80 70 60 50 25-60 Ovarian cancer Uterine cancer 40 11-40 30 20 10 1.4 2.7 10-12 up to 9 5-9 increased up to 10 4-12 increased increased 0 General population BRCA1/ BRCA2 RAD51D BRIP1 RAD51C PALB2 PTEN Lynch syndrome TP53
What Do My Test Results Mean? genetic test results meaning implications Pathogenic Mutation Variant, Likely Pathogenic Variant, Unknown Significance (VUS) Variant, Likely Benign No Variants Detected Positive VUS Negative Medical management based on cancer risks specific to gene mutation Medical management based on personal and/or family history of cancer
Positive Test Results Result A mutation was found Cancer Risks Increased risk for certain types of cancer Cancer Screening and Prevention Recommendations based on genetic test result Genetic Testing For Family Members Recommend genetic counseling and consideration of genetic testing
Negative Test Results Result No mutations were found Cancer Risks Based on personal and/or family history Cancer Screening and Prevention Recommendations based on personal and/or family history Genetic Testing For Family Members May be considered in certain situations
Variant of Unknown Significance (VUS) Test Results Result A genetic change was found, but it is unclear if it causes increased risk for cancer Cancer Risks Based on personal and/or family history Cancer Screening and Prevention Recommendations based on personal and/or family history Genetic Testing For Family Members May be considered in certain situations
OvaNext genetic testing for hereditary ovarian, uterine and/or breast cancer
What Are the Causes of Hereditary Ovarian Cancer? brca1 & brca2 50-75% additional genes in gynplus & ovanext 20-40% sporadic 75-90% hereditary 10-25% unknown up to 30%
What Are the Cancer Risks by Gene Type? High risk genes Lifetime Cancer Risk Moderate risk genes Familial risk Population risk Risk Category
What Do the Cancer Gene Risk Levels Mean? High Risk Genes Have published recommendations for cancer screening and/or prevention Moderate Risk Genes May have newer recommendations for screening and/or prevention If no recommendations are available, screening may be based on family history and/or other risk factors Newly Described Genes Are associated with an increased lifetime risk of developing certain types of cancer, but the risk is not well-defined Recommendations may be based on family history and/or other risk factors
What are Signs of Hereditary Ovarian and Uterine Cancer? Multiple 2 or more primary cancers in the same person 3 or more ovarian, uterine, or other cancers on the same side of the family Young Uterine cancer diagnosed <50y Rare Ovarian cancer at any age
GYNplus OvaNext GYNplus and OvaNext: Genes and Associated Cancers genes ovarian uterine breast colorectal prostate stomach pancreatic others BRCA1, BRCA2 ü ü ü ü ü MLH1, MSH2, MSH6, PMS2, EPCAM ü ü ü ü ü ü ü PTEN ü ü ü ü TP53 ü ü ü ü ü ü ü ü PALB2 ü ü ü ü BRIP1, RAD51C ü ü ATM ü ü ü ü CDH1 ü ü ü CHEK2 ü ü ü DICER1 ü ü MUTYH ü ü NBN ü ü ü NF1 ü ü RAD51D ü ü ü BARD1, MRE11A, RAD50 SMARCA4 ü STK11 ü ü ü ü ü
Lifetime Cancer Risks with OvaNext Gene Mutations (%) up to 87 up to 60 up to 40 General Population Gene Mutation* 12 2-3 1-2 Breast Uterine Ovarian *Mutations in most OvaNext genes lead to an increased risk for some cancers in this graph, but not all. This graph represents the highest risks associated with some OvaNext genes.
What Do My Test Results Mean? genetic test results meaning implications Pathogenic Mutation Variant, Likely Pathogenic Variant, Unknown Significance (VUS) Variant, Likely Benign No Variants Detected Positive VUS Negative Medical management based on cancer risks specific to gene mutation Medical management based on personal and/or family history of cancer
Positive Test Results HIGH RISK GENE MODERATE RISK OR NEWLY DESCRIBED GENE Result A mutation was found A mutation was found Cancer Risks High risk (for certain types of cancer) Moderate risk: Moderately increased risk (for certain types of cancer) Newly described: Increased risk (for certain types of cancer), but exact risk is not yet defined Cancer Screening and Prevention Recommendations based on genetic test result Recommendations based on genetic test results and/or family history Genetic Testing For Family Members Recommend genetic counseling and consideration of genetic testing Recommend genetic counseling and consideration of genetic testing
Positive Test Results (high risk gene) Result A mutation was found Cancer Risks Increased risk for certain types of cancer Cancer Screening and Prevention Recommendations based on genetic test result Genetic Testing For Family Members Recommend genetic counseling and consideration of genetic testing
Negative Test Results Result No mutations were found Cancer Risks Based on personal and/or family history Cancer Screening and Prevention Recommendations based on personal and/or family history Genetic Testing For Family Members May be considered in certain situations
Variant of Unknown Significance (VUS) Test Results Result A genetic change was found, but it is unclear if it causes increased risk for cancer Cancer Risks Based on personal and/or family history Cancer Screening and Prevention Recommendations based on personal and/or family history Genetic Testing For Family Members May be considered in certain situations
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