A 44-year-old woman is diagnosed with invasive lobular carcinoma of the breast. During family counselling, the oncologist notes that germline mutations in a specific gene predispose both to hereditary diffuse gastric cancer and to lobular breast carcinoma. Which gene is this?
- A CDH1 ✓
- B BRCA1
- C TP53
- D PTEN
Correct answer: A. CDH1
Explanation
CDH1 encodes E-cadherin, whose loss is found in the great majority of invasive lobular carcinomas and explains their discohesive single-file growth. Germline CDH1 mutation causes hereditary diffuse gastric cancer with markedly increased lobular breast cancer risk. BRCA1 mutations associate with basal-like ductal carcinomas, TP53 with Li-Fraumeni syndrome across many tumour types, and PTEN with Cowden syndrome.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.