Gene mutations are a critical element in younger patients, >40 years of age, who are at high risk for breast carcinomas and additional malignancies. Studies have been conducted to determine the precise genetic mutations associated in younger patients with breast carcinomas and additional malignancies.
Although age is the first major risk factor for breast cancer, the second-highest risk is associated with a family history of breast cancer. For young patients with breast carcinomas, this is often due to mutations in autosomal dominant genes.
Hereditary susceptibility is commonly due to mutations in BRCA 1, and BRCA 2. 30% of all breast mutations can be linked to BRCA1 and BRCA 2. The proteins in these genes play a critical role in transcriptional regulation and DNA recombination.
Both breast carcinomas, and additional malignancies, are typically a result of genetic mutation caused by the damaged, or non-existent TP53 gene. TP53 results in triple-negative breast cancer. Rare patients who carry germline mutations are at high risk for developing many different malignancies.
A study at Fujian Medical University, China screened a group of 1371 women with early-onset breast cancer. Of these 1.8% of patients were identified with BRCA1 mutations, and 4.4% with BRCA2 mutations. Those with BCRA2 mutations experienced a younger age of onset than BRCA1 patients.
Another study was performed to determine the prevalence of cancer patients that lacked the genetic mutations of BRCA1 and BRCA2. Of these patients tested, 12% were carriers of large genomic deletion or duplication of these genes, and 5% were carriers of mutation CHEK2 or TP53.
We can conclude from these studies that genetic mutations BRCA1 and BRCA2 are a crucial factor in younger breast cancer patients. The genetic code of TP53 is also a notable mutation that can result in triple-negative breast cancer. Patients with these genetic mutations can also suffer numerous additional malignancies. Providing patient access to early testing is the key to successful outcomes for high risk younger patients.