UPUMS Nsg officer-2023
Pathology & Genetics
Easy

Alteration in which of the following tumor suppressor genes increases the risk of breast cancer?

Appeared in: UPUMS Nsg officer-2023

Explanation

  • Mutations in the BRCA-1 and BRCA-2 genes are the most well-known and significant genetic risk factors for hereditary breast cancer.
  • These genes function as tumor suppressors, primarily involved in repairing double-stranded DNA breaks.
  • When mutated, their ability to repair DNA is lost, leading to genomic instability and a significantly increased lifetime risk for developing breast, ovarian, prostate, and pancreatic cancers.
  • According to Robbins & Cotran Pathologic Basis of Disease, mutations in BRCA1 and BRCA2 are responsible for 80% to 90% of single-gene familial breast cancers.

Why Other Options Were Wrong

  • Option A: VHL gene mutations are not primarily associated with breast cancer.
  • Option C: APC gene mutations are not associated with an increased risk of breast cancer.
  • Option D: Smad4 gene mutations are not a primary cause of hereditary breast cancer.

Related Visual

Visual explanation — Related Visual
Clinical Relevance
  • Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Tumor suppressor genes and hereditary cancer syndromes as background academic context rather than a clinical decision trigger.
  • Nurses play a crucial role in identifying patients with a strong family history of cancer (e.g., multiple relatives, early-onset cancer) who should be referred for genetic counseling and testing.
  • Understanding a patient's genetic risk (e.g., BRCA status) is vital for tailoring cancer screening protocols, such as recommending earlier or more frequent mammograms and breast MRIs.
  • Patient education is a key nursing responsibility, including discussing risk-reduction strategies like prophylactic surgery (mastectomy, oophorectomy) or chemoprevention (e.g., tamoxifen) for high-risk individuals.
How to Approach the Question
  • First, identify the key concepts in the question: 'tumor suppressor gene' and 'breast cancer'.
  • This is a factual recall question that tests your knowledge of medical genetics and oncology.
  • Systematically review the options. Try to recall the primary cancer association for each gene listed.
  • The link between BRCA-1/BRCA-2 and breast cancer is one of the most well-known in oncology. This makes it a strong candidate for the correct answer.
  • Confirm your choice by considering the other options. If you know that VHL is linked to kidney cancer and APC is linked to colon cancer, you can confidently eliminate them as distractors.
  • By matching the gene to its most prominent cancer association, you can reliably select the correct answer.
Concept Tested & Keywords
  • Concept Tested: Tumor suppressor genes and hereditary cancer syndromes
  • Stem keywords: tumor suppressor genes, risk, breast cancer, alteration
  • Lead-in keywords: which of the following

Question ID

QUkpc0woTUcmunU4Uht3MM

Reference Book

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed pp. 1046-1048, 1048-1050

Practise the full UPUMS Nsg officer-2023

Attempt every question from this paper in a timed mock, then review the full solution for each one.