Neoplasia: tumour suppressor genes: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Neoplasia: tumour suppressor genes

Sample item

A 25-year-old woman develops a sarcoma. Her brother had adrenocortical carcinoma in childhood and her mother had breast cancer at 35. Which gene is most likely mutated in the germline?

AAPCBTP53CBRCA2DRB1

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. TP53

Li-Fraumeni syndrome results from a germline TP53 mutation and predisposes to sarcomas, breast cancer, brain tumours, leukaemia and adrenocortical carcinoma at a young age. p53 halts the cell cycle or triggers apoptosis after DNA damage.

Option by option

A. APC
APC mutations cause familial adenomatous polyposis with colorectal cancer.
B. TP53 (correct)
Correct. This mutation causes Li-Fraumeni syndrome with the described tumour spectrum.
C. BRCA2
BRCA2 predisposes to breast, ovarian, prostate and pancreatic cancers, but not adrenal cortical carcinoma in children.
D. RB1
RB1 mutations cause retinoblastoma and osteosarcoma, but not this family pattern.

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.

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is B, TP53. Li-Fraumeni syndrome results from a germline TP53 mutation and predisposes to sarcomas, breast cancer, brain tumours, leukaemia and adrenocortical carcinoma at a young age.

Why is "APC" not the answer?

APC mutations cause familial adenomatous polyposis with colorectal cancer.

Why is "BRCA2" not the answer?

BRCA2 predisposes to breast, ovarian, prostate and pancreatic cancers, but not adrenal cortical carcinoma in children.

Why is "RB1" not the answer?

RB1 mutations cause retinoblastoma and osteosarcoma, but not this family pattern.

What concept does this question test?

It tests Neoplasia: tumour suppressor genes in Pathology. p53 halts the cell cycle or triggers apoptosis after DNA damage.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Neoplasia: tumour suppressor genes?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.