🏥 USMLE Exam Prep

A patient presents with extreme photosensitivity, numerous skin cancers at an early age, and neurological abnormalities. Genetic testing reveals a defect in a DNA repair pathway responsible for excising bulky adducts, such as pyrimidine dimers formed by UV radiation. Which repair mechanism is most likely impaired?

A Base excision repair
B Nucleotide excision repair
C Mismatch repair
D Non-homologous end joining

✓ Correct Answer: Option B

Xeroderma Pigmentosum is characterized by a defect in Nucleotide Excision Repair (NER), a critical pathway for removing bulky DNA lesions such as pyrimidine dimers induced by UV light. This leads to extreme photosensitivity and high risk of skin cancers.

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