Chapter·BiochemistryDNA repair

Cancer susceptibility and DNA repairDownloads

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1

A 42-year-old woman is seen by her primary care physician for her annual checkup. She has no current concerns and says that she has been healthy over the last year except for a bout of the flu in December. She has no significant past medical history and is not currently taking any medications. She has smoked 1 pack per day since she was 21 and drinks socially with her friends. Her family history is significant for prostate cancer in her dad when he was 51 years of age and ovarian cancer in her paternal aunt when she was 41 years of age. Physical exam reveals a firm, immobile, painless lump in the upper outer quadrant of her left breast as well as 2 smaller nodules in the lower quadrants of her right breast. Biopsy of these lesions shows small, atypical, glandular, duct-like cells with stellate morphology. Which of the following pathways is most likely abnormal in this patient?

ANucleotide excision repair

BBase excision repair

CNon-homologous end joining

DMismatch repair

EHomologous recombination

2

A 45-year-old woman presents with heavy menstrual bleeding between her periods. The patient also complains of experiencing an irregular menstrual cycle, weight loss, bloating, and constipation. She has had 3 uncomplicated pregnancies, all of which ended with normal vaginal deliveries at term. She has never taken oral contraception, and she does not take any medication at the time of presentation. She has no family history of any gynecological malignancy; however, her grandfather and mother had colon cancer that was diagnosed before they turned 50. On physical examination, the patient appears pale. Gynecological examination reveals a bloody cervical discharge and slight uterine enlargement. Endometrial biopsy reveals endometrial adenocarcinoma. Colonoscopy reveals several polyps located in the ascending colon, which are shown to be adenocarcinomas on histological evaluation. Which of the following mechanisms of DNA repair is likely to be disrupted in this patient?

AMismatch repair

BHomologous recombination

CNucleotide-excision repair

DNon-homologous end joining

EBase-excision repair

3

A 38-year-old man presents with concerns after finding out that his father was recently diagnosed with colon cancer. Family history is only significant for his paternal grandfather who also had colon cancer. A screening colonoscopy is performed, and a polyp is found in the ascending (proximal) colon, which on biopsy shows adenocarcinoma. A mutation in a gene that is responsible for which of the following cellular functions is the most likely etiology of this patient’s cancer?

ADNA mismatch repair

BSignal transduction

CCytoskeletal stability

DInhibits progression from G1 to S phase

EInhibitor of apoptosis

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