Gastroenterology: Lynch syndrome: practice question

A General Medicine 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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General Medicine · Gastroenterology: Lynch syndrome

Sample item

A 40-year-old man has colon cancer with microsatellite instability. His mother and aunt had endometrial and colon cancer at young ages. Which genes are involved?

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

The answer and the reasoning

A. DNA mismatch repair genes such as MLH1 and MSH2

Lynch syndrome (hereditary non-polyposis colorectal cancer) is an autosomal dominant defect of mismatch repair genes causing microsatellite instability. It predisposes to colorectal, endometrial, ovarian and other cancers. Colonoscopic surveillance every 1 to 2 years is advised.

Option by option

  • A. DNA mismatch repair genes such as MLH1 and MSH2 (correct)

    Correct. Mismatch repair defects cause Lynch syndrome.

  • B. BRCA1 gene

    BRCA1 is linked to breast and ovarian cancer.

  • C. APC gene

    APC mutations cause familial adenomatous polyposis with hundreds of polyps.

  • D. VHL gene

    VHL causes von Hippel-Lindau disease.

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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Questions about this General Medicine question

What is the answer to this General Medicine question?

The best answer is A, DNA mismatch repair genes such as MLH1 and MSH2. Lynch syndrome (hereditary non-polyposis colorectal cancer) is an autosomal dominant defect of mismatch repair genes causing microsatellite instability.

Why is "BRCA1 gene" not the answer?

BRCA1 is linked to breast and ovarian cancer.

Why is "APC gene" not the answer?

APC mutations cause familial adenomatous polyposis with hundreds of polyps.

Why is "VHL gene" not the answer?

VHL causes von Hippel-Lindau disease.

What concept does this question test?

It tests Gastroenterology: Lynch syndrome in General Medicine. It predisposes to colorectal, endometrial, ovarian and other cancers. Colonoscopic surveillance every 1 to 2 years is advised.

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 Gastroenterology: Lynch syndrome?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine 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.