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Focused on the patient - Baylor Health Care System

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16<str<strong>on</strong>g>Focused</str<strong>on</strong>g> <strong>on</strong> specialized careBreast and Ovarian Cancer:Patient Resp<strong>on</strong>ses to Genetic Testingby Becky Althaus, PhDDr. Becky AlthausFor many years, <strong>the</strong> <strong>Baylor</strong> Samm<strong>on</strong>s Cancer Center has offered a Hereditary Cancer RiskProgram for individuals c<strong>on</strong>cerned about developing breast or ovarian cancer. Factors suchas family history, pers<strong>on</strong>al history, age, and reproductive history tell part of <strong>the</strong> story. Laboratoryanalysis of <strong>the</strong> BRCA1 and BRCA2 genes that c<strong>on</strong>tribute to breast and o<strong>the</strong>r types ofcancer add to <strong>the</strong> resources used by professi<strong>on</strong>als to develop risk assessments. Womenwith <strong>on</strong>e of <strong>the</strong> following characteristics may benefit from genetic testing:• A diagnosis of breast cancer at or before age 50, or a family history of breast cancerbefore age 50• A pers<strong>on</strong>al or family history of ovarian cancer (at any age)• A pers<strong>on</strong>al or family history of male breast cancer• A pers<strong>on</strong>al or family history of bilateral breast cancer• An Ashkenazi Jewish background with a pers<strong>on</strong>al or family history of breast orovarian cancerDespite <strong>the</strong> availability of this genetic informati<strong>on</strong>, however, it can be difficult for women todecide to seek it—or, if <strong>the</strong>y do get tested, to know what to do with <strong>the</strong> informati<strong>on</strong>. Thus,<strong>the</strong> physicians and genetic counselors at <strong>Baylor</strong> Samm<strong>on</strong>s have always provided psychosocialsupport and counseling at every step.Becky Althaus, PhD, Zehra Kapadia, MD, Gabrielle Ethingt<strong>on</strong>, Giovanna Saracino, MS,and Joanne L. Blum, MD, PhD, presented <strong>the</strong>ir findings to <strong>the</strong> San Ant<strong>on</strong>io Breast CancerSymposium <strong>on</strong> how women who tested positive for <strong>the</strong> BRCA1 or BRCA2 genes used thatinformati<strong>on</strong> to prevent cancer and how <strong>the</strong>y notified <strong>the</strong>ir at-risk relatives.Figure 1Resp<strong>on</strong>se to BRCA results Acti<strong>on</strong> taken49%1%Mastectomy58%14%Salpingooopherectomy43%Hysterectomy Chemopreventi<strong>on</strong>Positive test result Negative test result Number of <strong>patient</strong>s = 20455%29%16%11% 11% 11%Increasedsurveillance49%44%Lifestylechanges69%Testing ofo<strong>the</strong>r familymembersThey sent a 27-item questi<strong>on</strong>naireto 100 women whohad tested positive for <strong>on</strong>e of<strong>the</strong>se genetic mutati<strong>on</strong>s and200 women who had testednegative. Of those, 88 (88%)and 124 (62%), respectively,resp<strong>on</strong>ded.The results are summarizedin Figure 1. The women whotested positive for <strong>the</strong> genemutati<strong>on</strong> were significantlymore likely to choose surgeryas a way to prevent cancer.

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