Match each clinical presentation of early-onset or familial breast cancer with the most likely underlying genetic mutation.
- A 32-year-old woman with early-onset breast cancer whose family history includes childhood osteosarcoma and adrenocortical carcinoma in first-degree relatives.TP53 mutation
- A 38-year-old woman with breast cancer who is noted to have macrocephaly on physical examination and a history of surgically treated follicular thyroid carcinoma.PTEN mutation
- A 45-year-old man diagnosed with invasive ductal carcinoma of the breast whose father recently passed away from pancreatic adenocarcinoma.BRCA2 mutation
- A 35-year-old woman with triple-negative breast cancer whose mother and maternal aunt both died of high-grade serous ovarian carcinoma.BRCA1 mutation
Cevap
The patient with the osteosarcoma and adrenocortical carcinoma family history matches the TP53 mutation (Li-Fraumeni syndrome). The patient with macrocephaly and follicular thyroid carcinoma matches the PTEN mutation (Cowden syndrome). The male patient with a family history of pancreatic cancer matches the BRCA2 mutation. The patient with triple-negative breast cancer and a strong family history of ovarian carcinoma matches the BRCA1 mutation.
Each genetic mutation produces a distinct familial cancer syndrome with characteristic phenotypic features. TP53 mutations cause Li-Fraumeni syndrome (sarcomas, brain tumors, adrenocortical carcinoma). PTEN mutations cause Cowden syndrome (macrocephaly, follicular thyroid cancer, endometrial cancer). BRCA2 is highly associated with male breast cancer and pancreatic cancer. BRCA1 strongly predisposes to triple-negative breast cancer and early-onset ovarian carcinoma.
Adım Adım Çözüm
Anahtar Kavram
Inherited breast cancer syndromes and their associated non-mammary clinical manifestations
Tahmini Süre:1m 30s