family history

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

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?

A. Annual FIT testing.

B. Consider prophylactic colectomy.

C. Genetic counselling and testing.

D. Colonoscopy screening at 40.

E. Reassurance and review.

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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?

A. There are multiple VWD patterns; most are autosomal dominant (AD).

B. Treatment involves iron supplementation only.

C. It affects females more than males, with a ratio of approximately 2:1.

D. It is an X-linked recessive disorder.

E. Type 1 is the most severe form.

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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?

A. Contact Dermatitis

B. Tinea Corporis

C. Pityriasis Rosea

D. Eczema (Atopic Dermatitis)

E. Psoriasis

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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?

A. Advise increased cancer screening for all family members.

B. Offer genetic counselling and cascade testing to at-risk relatives.

C. Recommend prophylactic surgery for all first-degree relatives.

D. Focus solely on lifestyle changes for risk reduction.

E. Inform family the risk is only for future children.

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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?

A. MRI of the breast

B. Ultrasound of the breast

C. Reassurance and routine screening in one year

D. Stereotactic core biopsy

E. Excisional biopsy

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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?

A. Advise increased surveillance with colonoscopy every 5 years starting now.

B. Order germline testing for MLH1, MSH2, MSH6, and PMS2 genes.

C. Referral to a familial cancer clinic for risk assessment and counselling.

D. Order tumour testing for microsatellite instability (MSI) and immunohistochemistry (IHC).

E. Reassure the patient that this family history is not strongly suggestive of a hereditary 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?

A. Fasting blood glucose

B. Oral glucose tolerance test

C. HbA1c

D. Random blood glucose

E. Urine glucose

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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?

A. Liver function tests

B. Urine analysis

C. Fasting blood glucose and lipid profile

D. Full blood count

E. ECG

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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?

A. Referral for family therapy

B. Increase the current medication dosage

C. Recommend individual cognitive behavioral therapy for the child

D. Implement a strict reward system at home

E. Switch to a different stimulant medication

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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?

A. Order a colonoscopy immediately.

B. Test for FAP-associated genes.

C. Order faecal occult blood testing.

D. Offer genetic counselling and testing for Lynch syndrome.

E. Reassure and advise standard screening at age 50.

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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?

A. Ordering a BRCA1/2 gene mutation analysis

B. Prescribing prophylactic tamoxifen

C. Suggesting prophylactic bilateral mastectomy

D. Recommending annual mammography starting at age 25

E. Referral to a clinical geneticist or genetic counselor for pre-test counseling and risk assessment

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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?

A. PSA

B. Full blood count

C. Fasting blood glucose and lipid profile

D. ECG

E. Urine albumin creatinine ratio

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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?

A. There is a 25% chance of cystic fibrosis (CF) in the child.

B. 0% chance of CF in the child.

C. There is a 50% chance of being a carrier.

D. There is a 75% chance of cystic fibrosis (CF) in the child.

E. There is a 50% chance of cystic fibrosis (CF) in the child.

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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?

A. Annual or biennial colonoscopy starting now; discuss aspirin.

B. Colonoscopy at age 40, then every 5 years.

C. Annual iFOBT starting now.

D. Refer to a bowel cancer specialist.

E. Immediate colonoscopy, 5-year repeat, 2-year iFOBT, aspirin at 50.

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Endoscopy image of colon adenocarcinoma in sigmoid colon.

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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?

A. Order a CT scan of the abdomen and pelvis

B. Administer stool softeners and schedule a follow-up appointment in 6 months

C. Biopsy the lesion

D. Initiate a high-fiber diet and repeat colonoscopy in 5 years

E. Prescribe anti-inflammatory medication

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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?

A. HER2/neu testing

B. KRAS mutation testing

C. p53 mutation testing

D. Estrogen receptor testing

E. BRCA1/BRCA2 mutation testing

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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?

A. Reassure and advise lifestyle changes

B. Order BRCA1/BRCA2 testing

C. Refer for genetic counselling

D. Order mammography and pelvic ultrasound

E. Order a multi-gene panel

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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?

A. Asthma

B. Rheumatoid arthritis

C. Generalized anxiety disorder

D. Type 2 Diabetes Mellitus

E. Hypertension

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family history

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