A6 / Daily local News
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Thursday, october 17, 2013
A Medical Choice: Cancer genetics counseling and testing All men and women have two copies of the BRCA 1 and BRCA 2 genes. One copy of the gene is inherited from each biological parent. The BRCA 1 It is estimated that approximately and BRCA 2 genes are called “tumor 5-10% of women who develop breast suppressor genes” and help prevent cancer and approximately 10% of cancers from developing from a single women who develop ovarian cancer cell. However, some people are born have inherited an alteration, or mutawith a mutation in one of these genes tion, in one of their genes that prethat causes it to not work properly. disposes them to these cancers. The most common genes that predispose to These individuals have a significantly breast and ovarian cancers are the BRCA increased risk to develop cancers, mainly breast and ovarian cancers, 1 and BRCA 2 genes. The BRCA genes and these cancers typically occur at and the potential of genetic counseling younger ages (under age 50). have been in the spotlight lately since Mutations in the BRCA 1 and BRCA actress Angelina Jolie wrote a New York 2 genes run in families and are passed Times op-ed piece entitled “My Medion from generation to generation. cal Choice.” Jolie announced that she Genetic testing for the BRCA 1 and carried a “faulty” BRCA 1 gene, placing BRCA 2 genes can be performed using her at a significantly increased risk to a blood sample and can determine if develop breast and ovarian cancer.* By KIM MCGREEVY MS, CGC, Certified Genetic Counselor
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an individual carries a mutation in one of these genes. Not every individual who has a personal and/or family history of cancer needs to consider genetic testing. Cancer genetic counselors are medical professionals who specialize in hereditary cancer conditions and can help determine if genetic testing is appropriate. If testing is appropriate and performed, the genetic counselor can assist with interpreting the results and can recommend cancer screenings and preventative actions based on guidelines established by the National Comprehensive Cancer Network (NCCN). Individuals concerned about their personal and/or family history of cancer may benefit from cancer genetic counseling. The following are indications for cancer genetic counseling:
Cancer genetic counselors are able to help educate patients about hereditary cancer conditions, interpret genetic testing results, and discuss options for cancer screening and prevention according to guidelines established by the NCCN. The Genetic Counseling Program of the University of Pennsylvania of • Individuals diagnosed with cancer Chester County Hospital, offered at the Women’s Specialty Center, is specifiat an early age (younger than 50); • Women who have been diagnosed cally designed for women who want information about their personal risk with ovarian cancer at any age; • Individuals with two or more close for breast and ovarian cancer. The program provides participants assisrelatives on the same side of the famtance in understanding risk factors; ily with the same or related types of cancer (for instance breast and ovarian a review of family history, personal medical history and lifestyle risk faccancer, or colon and uterine cancer); tors; an explanation of genetic testing • Individuals who have had more than one primary type of cancer (bilat- and determination if it is a reasonable eral breast cancer or women with both option; a written summary of level of risk ; an outline of a plan for continued breast and ovarian cancer); monitoring; and an evaluation of eligi• Individuals who have a family bility to participate in research studies member who has been found to carry Those who may benefit from cancer a mutation in a cancer predisposition risk assessment include: gene; • Women who have been diag• Individuals of ethnicities that are nosed with breast cancer at an early known to have a higher risk to carry mutations in the BRCA 1 and BRCA 2 Please see CHOICE on A19 genes (Ashkenazi Jewish).