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Biochemistry · DNA repair
Sample itemA 35-year-old man has early-onset colorectal cancer with a strong family history and microsatellite instability. Which DNA repair pathway is defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Mismatch repair
Hereditary non-polyposis colorectal cancer (Lynch syndrome) is caused by germline defects in mismatch repair genes such as MLH1 and MSH2. Replication errors persist in repetitive sequences, producing microsatellite instability.
Option by option
A. Mismatch repair (correct)
Correct. Failure to fix replication mismatches gives microsatellite instability and Lynch syndrome.
B. Non-homologous end joining
Non-homologous end joining repairs double-strand breaks and is not linked to microsatellite instability.
C. Nucleotide excision repair
Defective nucleotide excision repair causes xeroderma pigmentosum with skin cancers after UV exposure.
D. Base excision repair
Base excision repair removes single damaged bases and is not the cause of Lynch syndrome.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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