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Dermatology · Skin tumours: familial atypical mole syndrome
Sample itemA family has multiple members with more than 50 atypical moles, melanoma and pancreatic cancer. Which gene is commonly mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. CDKN2A
Familial atypical mole and melanoma syndrome (dysplastic naevus syndrome) is linked to CDKN2A mutations, which also raise the risk of pancreatic cancer. Surveillance with total body skin examination and dermoscopy is advised. PTCH1 is mutated in Gorlin syndrome.
Option by option
A. XPA
XPA mutation causes xeroderma pigmentosum.
B. CDKN2A (correct)
Correct. CDKN2A mutation underlies familial melanoma.
C. PTCH1
PTCH1 mutation causes basal cell naevus syndrome.
D. NF1
NF1 mutation causes neurofibromatosis type 1.
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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