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Transcript
Interpret genetic test results Interpreting genetic testing results tool Disclaimer: This tool provides a basic overview of interpretation of genetic test results for hereditary cancer syndromes and is not a substitute for clinical guidance or the consultation of an experienced genetics professional. Individuals who have had cancer or colon polyps, when the mutation in the family is not already known: Positive result in an affected individual • Disease-causing mutation was identified • High risk of other cancers/other features (e.g., colon polyps) associated with syndrome • Provides opportunity for relatives to be tested for the family’s specific mutation Negative (indeterminate) in an affected individual • Disease-causing mutation not identified • May be true negative or false negative ■ False negative Method of testing cannot identify causative mutation (consider referral for follow-up testing by a genetics specialist), or Testing did not include the gene responsible for cancer predisposition • Still at high risk of developing additional cancers and other features (such as colon polyps) associated with the syndrome • Does not provide useful information for testing in relatives Individuals who have had cancer or colon polyps, when the mutation in the family is known: Positive result in an affected individual • Disease-causing mutation identified • High risk of developing additional cancers and other features (such as colon polyps) associated with the syndrome • May provide more information about risk to close relatives Negative in an affected individual • Disease-causing mutation not identified • Cancer/polyps not related to known disease-causing mutation in family, i.e., sporadic ■ Note: In rare cases there may be a second inherited mutation in the family • At increased cancer risk due to personal cancer history but no additional cancer risk Colorectal Cancer Fact Sheets: Interpret genetic test results | 1 Interpret genetic test results Individuals without a history of cancer or colon polyps, when the mutation in the family is not already known: Positive in an unaffected individual • Disease-causing mutation identified • At high risk of developing cancers and other features (such as colon polyps) associated with the syndrome • Informs testing for others in the family Negative (indeterminate) in an unaffected individual • Disease-causing mutation not identified • May be true negative or false negative ■ False negative Family may still carry a mutation, but patient may not have inherited it, or Method of testing used cannot identify existing mutation, or Testing did not include the gene responsible for cancer predisposition in family • Risk is still based on personal/family history ■ Screen using appropriate guidelines • Does not provide useful information for testing in relatives Individuals without a history of cancer or colon polyps, when the mutation in the family is known: Positive in an unaffected individual • Disease-causing mutation identified • High risk of developing cancers and other features (such as colon polyps) associated with the syndrome • May provide more information about risk to close relatives Negative in an unaffected individual • Disease-causing mutation not identified • At general population risk for cancer if no other risk factors are identified Variants of unknown significance in affected or unaffected individual: • Change from usual genetic sequence has been identified, but the causal relationship, if any, to cancer is uncertain (i.e., it is not clear if the change is harmful) • Testing of relatives for variants is discouraged • Individual should remain in contact with physician and testing lab in case new information clarifies the meaning of test result • Risks for cancer or cancer recurrence are based on family and medical history 11-0456:2/12:jt:Updated Feb 2012 Colorectal Cancer Fact Sheets: Interpret genetic test results | 2