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family history

Practice targeted AMC-style multiple-choice questions on family history.

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A 28-year-old woman with a mother diagnosed with colorectal cancer at 45 and a maternal uncle at 50 seeks advice. She is otherwise well. What is the most appropriate next step in her management?

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A 17-year-old teenage girl presents with menorrhagia and a family history of heavy periods and hysterectomy, suggestive of Von Willebrand Disease (VWD). Which statement about VWD is correct?

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A 32-year-old woman presents to her GP complaining of a new, intensely itchy rash on her elbows, knees, and scalp. On examination, the GP notes symmetrical, erythematous papules and plaques with overlying silvery scales. The patient reports a family history of similar skin conditions. What is the most likely diagnosis?

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Following a positive genetic test for a hereditary cancer syndrome, what is the most important next step for the patient's family?

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Mammogram microcalcifications in carcinoma in situ, CC, details
Image by Jmarchn CC BY-SA 3.0 · Source

A 62-year-old woman presents for routine screening mammography. She has no palpable lumps or skin changes. Her mother was diagnosed with breast cancer at age 68. The provided image is from her mammogram. What is the MOST appropriate next step in management?

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A 45-year-old woman has a mother diagnosed with colorectal cancer at age 55 and a maternal aunt with endometrial cancer at age 60. What is the most appropriate initial step regarding genetic testing for hereditary cancer syndrome?

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A 50-year-old Aboriginal man presents for a routine check-up. He has a strong family history of type 2 diabetes. What is the most appropriate initial screening test?

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A 40-year-old Aboriginal man presents for a health check. He has a strong family history of diabetes and cardiovascular disease. What is the most appropriate initial screening test to assess his risk?

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A 9-year-old, diagnosed with ADHD, struggles with homework completion despite medication. His parents report significant family stress. What's the MOST appropriate next step?

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A 28-year-old woman presents for a check-up, reporting occasional mild abdominal discomfort. Her father was diagnosed with colorectal cancer at age 48, and his tumour showed microsatellite instability. A paternal aunt had endometrial cancer at 55. Physical exam is normal. What is the most appropriate next step regarding genetic testing?

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A 35-year-old woman with a family history of BRCA1-associated breast cancer is considering genetic testing. She is asymptomatic and has no personal history of cancer. What is the MOST appropriate initial step in her management?

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A 40-year-old Aboriginal man presents for a health check. He reports feeling well but has a strong family history of diabetes and cardiovascular disease. What is the most appropriate initial screening test?

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A couple with a 4-year-old daughter who has cystic fibrosis (CF), and both are CFTR gene carriers, want to try for another baby. What is the likelihood of having a second baby with cystic fibrosis?

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A 33-year-old lady has an HNPCC gene mutation and two sisters with bowel cancer. She reports no change in bowel habits. What is the best surveillance for bowel cancer in this patient?

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Endoscopy image of colon adenocarcinoma in sigmoid colon.
Image by Unknown CC BY-SA 3.0 · Source

A 62-year-old male presents with a three-month history of intermittent rectal bleeding and a change in bowel habits. He reports increased constipation alternating with episodes of diarrhea. His family history is significant for a father who had colon cancer at age 70. A colonoscopy was performed, and an image from the procedure is shown. What is the MOST appropriate next step in management?

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A 35-year-old woman with a strong family history of breast cancer (mother and sister diagnosed before age 40) is concerned about her risk. What is the most appropriate genetic testing for this patient?

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A 35yo woman's mother died of ovarian cancer at 45, and her paternal aunt had breast cancer at 50. She is concerned about her risk. What is the most appropriate initial step regarding genetic testing?

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A 66-year-old man, active with a good diet, whose mother had osteoporosis at age 91, wants to check his osteoporosis risk. What risk factors prompt a bone mineral density (BMD) test?

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