GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer
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1 GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer
2 Causes of Hereditary Ovarian and Uterine Cancer uterine cancer ovarian cancer Sporadic 75-90% Sporadic 70-80% Hereditary, 5% Lynch syndrome is the most common type of inherited uterine cancer Hereditary, 10-25% BRCA1 and BRCA2 mutations cause 50-75% of inherited ovarian cancers
3 Features of Hereditary Ovarian and Uterine Cancer o Ovarian cancer diagnosed at any age o Uterine cancer diagnosed younger than age 50 o More than one cancer in the same person (e.g. uterine and breast or thyroid cancer) o 3 or more family members with ovarian, breast, and other cancers* o 3 or more family members with ovarian, uterine, and/or colorectal cancer* *On the same side of the family
4 GYNplus Genes and Associated Cancers BRIP1 BRCA1/BRCA2 MLH1, MSH2, MSH6, PMS2, EPCAM Hereditary breast and ovarian cancer Lynch syndrome PALB2 PTEN RAD51C RAD51D TP53 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 Breast Ovarian Pancreatic Male Breast Breast Thyroid Uterine Colorectal Kidney Breast Ovarian Breast Ovarian Breast Cancer Sarcoma Brain Cancer Adrenocortical carcinoma Leukemia Gastrointestinal Genitourinary
5 Lifetime Ovarian and/or Uterine Cancer Risks with GYNplus Gene Mutations Ovarian cancer Uterine cancer % % % 2.7% up to 9% 4-12% increased up to 10% 5-9% 10-12% increased increased 0 Average BRCA1/ BRCA2 BRIP1 Lynch syndrome PALB2 PTEN RAD51C RAD51D TP53
6 What Do My Test Results Mean? genetic test results meaning of results 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 family history of cancer
7 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 Recommended
8 Negative Test Results Result No mutation was 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 Usually not recommended
9 Variant of Unknown Significance Test Results Result A genetic change was found but it is unclear whether or not 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 Usually not recommended
10 OvaNext: A Genetic Test for Hereditary Ovarian, Uterine, and/or Breast Cancer
11 Causes of Hereditary Ovarian Cancer Additional Genes in GYNplus & OvaNext 20-40% Sporadic 75-90% Hereditary 10-25% BRCA1 & BRCA % Unknown up to 30%
12 Lifetime Cancer Risk High risk genes Lifetime Cancer Risk Moderate risk genes Familial risk Population risk Risk Category
13 Genes and Associated Cancers genes Ovarian Breast Uterine Colorectal Stomach Pancreatic Others BRCA1, BRCA2 GYNplus MLH1, MSH2, MSH6, PMS2, EPCAM PTEN TP53 PALB2 BRIP1, RAD51C, RAD51D ATM OvaNext BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, RAD51D CDH1 CHEK2 MUTYH NF1 SMARCA4 STK11
14 OvaNext Genes and Medical Implications Genes HIGH RISK GENES BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, MUTYH biallelic,* PMS2, EPCAM, PALB2, PTEN, STK11, TP53 MODERATE RISK GENES ATM, BRIP1, CHEK2, NF1, RAD51C, RAD51D NEWLY DESCRIBED GENES BARD1, MRE11A, MUTYH carrier**, NBN, RAD50, SMARCA4 Level of Cancer Risk*** High Moderate Increased, but not well defined Medical Management Established guidelines for screening and prevention Guidelines not well established Management based on family history and estimated cancer risk Guidelines not established Management based on family history and estimated cancer risk *When a MUTYH mutation is inherited from both parents **When a MUTYH mutation is inherited from just one parent ***Cancer risks may be for breast, ovarian, uterine, colorectal, or other cancers
15 What Do My Test Results Mean? genetic test results meaning of results 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 family history of cancer
16 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 Recommended
17 Positive Test Results (moderate risk gene) Result A mutation was found Cancer Risks Moderately increased risk for certain cancer types Cancer Screening and Prevention Recommendations based on genetic test result and/or family history Genetic Testing For Family Members May be recommended
18 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 Usually not recommended
19 Variant of Unknown Significance Test Results Result A genetic change was found but it is unclear whether or not 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 Usually not recommended
20 GYNPONCOUNSA _v3
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