Chapter·BiochemistryDNA repair

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1

A 42-year-old woman presents to her primary care physician with fatigue. She reports that over the past 2 months, she has felt increasingly tired despite no changes in her diet or exercise. Her past medical history is notable for obesity, seasonal allergies, and hypertension. She takes ranitidine as needed and hydrochlorothiazide daily. Her family history is notable for colorectal cancer in her mother and maternal uncle, endometrial cancer in her maternal aunt, and ovarian cancer in her maternal grandmother. Her temperature is 98.8°F (37.1°C), blood pressure is 132/71 mmHg, pulse is 89/min, and respirations are 17/min. On exam, she has conjunctival pallor. A stool sample is hemoccult positive. A colonoscopy reveals a fungating hemorrhagic mass in the ascending colon. Which of the following processes is likely impaired in this patient?

AMismatch repair

BNon-homologous end joining

CHomologous recombination

DBase excision repair

ENucleotide excision repair

2

A 47-year-old man presents to his primary care physician for fatigue. Over the past 3 months, his tiredness has impacted his ability to work as a corporate lawyer. He denies any changes to his diet, exercise regimen, bowel movements, or urinary frequency. His past medical history is notable for obesity, type II diabetes mellitus, and hypertension. He takes metformin and enalapril. His family history is notable for colorectal cancer in his father and paternal grandfather and endometrial cancer in his paternal aunt. He has a 20-pack-year smoking history and drinks one 6-pack of beer a week. His temperature is 98.8°F (37.1°C), blood pressure is 129/71 mmHg, pulse is 82/min, and respirations are 17/min. On exam, he has conjunctival pallor. A stool sample is positive for occult blood. A colonoscopy reveals a small hemorrhagic mass at the junction of the ascending and transverse colon. Which of the following processes is likely impaired in this patient?

AMismatch repair

BHomologous recombination

CNon-homologous end joining

DNucleotide excision repair

EBase excision repair

3

A 35-year-old woman, gravida 2, para 2, comes to the physician with intermenstrual bleeding and heavy menses for the past 4 months. She does not take any medications. Her father died of colon cancer at the age of 42 years. A curettage sample shows dysplastic tall, columnar, cells in the endometrium without intervening stroma. Germline sequencing shows a mutation in the MLH1 gene. Which of the following is the most likely underlying cause of neoplasia in this patient?

AInability to excise bulky DNA adducts

BDefective checkpoint control transitions

CImpaired repair of deaminated DNA bases

DAccumulation of double-stranded DNA breaks

EInstability of short tandem DNA repeats

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