Louisville Medicine Volume 71, Issue 12 | Page 26

Updates On Cancer Genetics and Hereditary Cancer Syndromes

by KATHRYN VANCE

Dr . Sam Yared , Senior Physicians ’ Speaker Series Chair , introduced Dr . Kara Goodin , medical geneticist at Norton Cancer Institute , on Tues ., Feb . 6 . She is a graduate of the UofL School of Medicine and stayed to complete a residency in pediatrics before going to the University of Alabama to complete a residency in medical genetics . She also completed a medical genetics fellowship at Wayne State University .

There are currently about 80 genes that have an association with cancer . As cells make new copies , if a mistake happens , they either fix that mistake or they stop it from causing problems . If they don ’ t do their job properly , that mistake is what becomes cancer . That is true for all cancers , but most cancers are sporadic , meaning they happen by chance .
There are a few factors that Dr . Goodin calls “ red flags ” for hereditary cancer ; these spur the referring physician to send the patient to her team .
» Youth – various cancers that are diagnosed age 50 and under , primarily breast , colon and uterine . Renal cell cancer
24 LOUISVILLE MEDICINE is considered young at age 46 or younger .
» Multiple – if the patient has had multiple cancers or there are multiple people in the family that have had the same or related cancers .
» Rare – there are certain cancers that are rare enough that there is a high enough risk they could be hereditary . These include ovarian , pancreatic , males with breast cancer , anyone with triple negative breast cancer , some colon and uterine cancers , and anyone with multiple GI polyps .
When first meeting with families , there is a focus on education about genetics as well as obtaining a personal and family history , discussing what possible results could be . A hallmark for the field of genetics , she said , is that they provide informed consent , making sure that the patient understands what they ’ re looking for and are okay with that process and what that might mean for them . They also explain GINA ( the Genetic Information Nondiscrimination Act ), which was established in 2009 . This act forbids health insurance companies and employers from using genetic information , including test results , to discriminate against people .