PTEN hamartoma-tumour syndrome: a model for the practice of clinical cancer genetics

Published on September 3, 2014   21 min

A selection of talks on Oncology

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0:00
I'm Professor Charis Eng, the Hardis chairperson of the Genomic Medicine Institute and director at the Center for Personalized Genetic Healthcare at the Cleveland Clinic. I shall be speaking to you about the PTEN Hamartoma-tumour Syndrome as a model for the practice of clinical cancer genetics.
0:21
When we practice clinical cancer genetics, we ask ourselves when faced with a patient with cancer, is it heritable or is it sporadic?, because this has implications for the patient. For example, which cancers will this patient be at risk for? At what ages do these risks arise? What does one do for the patient? In addition to the patient, what are implications for the patient's family? Who amongst them is at risk for cancer, and what does one do for each family member at risk?
0:56
Clinical clues suggesting heritable cancer include young age of onset, bilateral disease in paired organs, multifocal tumors, association with other tumor types-- for example, breast and ovarian cancer, colon and endometrial cancers. Familial clustering of cancers, but not always.
1:21
Clinical cancer genetics in 2013 can be powerful. When presented with a patient with cancer, in this illustration of breast cancer we ask, is it hereditary or sporadic? Epidemiologic studies tell us that 10% to 15% on average are caused by high penetrance mutant genes. But which 10% to 15%? By looking at personal and family history details such as age at onset, presence of other types of cancer, affecting one or more organs, and family history using pedigrees, one can determine whether one is low-risk when none of these hallmarks are present or high-risk if one or more are present. If the patient is high risk, pretest genetic counseling is offered and the specific gene test as well. When the gene test results are ready, the patient will receive the results in the setting of post-test counselling. If the test is positive, then gene informed risk management surveillance and prophylaxis may be instituted. Should none of the clinical hallmarks of heritable cancer are present, the patient is said to be low risk and the national guidelines for the national population instituted.

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PTEN hamartoma-tumour syndrome: a model for the practice of clinical cancer genetics

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