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Case Study BRCA2

Case Study BRCA2 Jeff is a career military male, age 41, whose father was diagnosed with breast cancer several years ago. His father had genetic testing and found to have a BRCA2 deleterious mutation. Jeff wasinformed of his father’s results but ignored his father’s advice to be tested because he is nothinglike his father, takes good care of himself physically, and thought that his father was mistakenand breast cancer genes could only be transmitted through a woman. He completed the ACT forHealth breast risk assessment questionnaire as part of his annual WebHA survey, whichrecommended that he would need follow-up with his healthcare provider. He thought the ACTfor Health finding was wrong, so he started investigating using the internet so that he could bereassured. However, he learned on the internet that BRCA2 gene mutations can be inherited fromeither parent, which meant his father was right and he may have inherited this mutation from him.He kept his father’s mutation information from his wife as he thought it was not relevant to himor for their children, but he recently told his wife about his concerns based on his internetinvestigation. He is presenting at his annual active duty military physical with his wifeaccompanying him. He does not want any of this information in his permanent record. He is up for a promotion from Lieutenant Colonel to Colonel.He is worried that this will affect a possible promotion. Jeff’s Family • Jeff :41, vegetarian, runner and career military • Maria: wife, age 39 in good health, a vegetarian, runner. • Son: 10 years old, named Noah, in good health and in school. • Daughter:5 years old, named Luna in good health and started kindergarten this year. • Sister: diagnosed with breast cancer at age 45. Had hysterectomy and ERT (estrogen replacement therapy). Has 2 daughters (Lisa 22 and Linda 25) who are both healthy • Brother: age 42 who Jeff thinks may have had a minor skin cancer but does not know the details. • Mother: aged 70 in good health. She is adopted so there is no information on any of her biologic family members. Has HTN (hypertension) and is on antihypertensive medications. • Father: currently aged 72, was diagnosed with breast cancer at age 69 and was found to have a BRCA2 mutation. • Paternal aunt: Currently 68, she was diagnosed and treated for unilateral breast cancer at age 41.She had a mastectomy; has 2 children. • Paternal cousin: daughter of the above aunt, is 42 and was diagnosed with ovarian cancer at age 40. • Paternal cousin: sibling to cousin above, is 39. • Paternal uncle: age 69 who is alive and well with no history of cancer.Recently diagnosed with diabetes. Never had kids. • A second paternal uncle: currently age 70, was diagnosed with prostate cancer at age 63. He and wife were unable to have kids. Considered adoption. • Paternal grandmother: died at age 75 • Paternal grandfather: died at age 58 shortly after his diagnosis of gastric cancer • Ethnicity of paternal side: Irish Catholic Please answer the following questions: 1. Construct a minimum of a three (3) generation pedigree from the information provided by the client/family. 2. What are the red flags in Jeff’s family that are consistent with having a BRCA2 mutation? 3. Explain the Mendelian pattern of transmission associated with BRCA 2. Identify the cancer risks for men and women with a BRCA2 mutation. What cancers are they at risk for, and what is their lifetime percentage risk for each of these cancers? 4. Explain the Genetic Information Nondiscrimination Act (GINA). What protections, and lack of protections does GINA provide? Which groups does GINA protect, and which groups does GINA not protect. Which types of insurance does GINA not apply to? 5. What is the role of the nurse?What are the nursing implications?]]>

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