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Breast cancer is a multifactorial disease, but between 5% and 10% of cases have a hereditary origin, meaning they are caused by genetic mutations that are inherited from parents to children. These mutations are known as germline mutations because they are present in all cells of the body. The genes most closely linked to hereditary breast cancer are BRCA1 and BRCA2, which have high penetrance and significantly increase the risk of developing cancer at younger ages. Other important genes that may also be involved are TP53, PALB2, CHEK2, PTEN, and CDH1. The PALB2 gene, for example, works alongside BRCA2 to repair damaged DNA, while mutations in TP53 are linked to Li-Fraumeni syndrome, a disorder that predisposes to multiple types of cancer. In a study conducted in Nicaragua, 39 women with a confirmed diagnosis of breast cancer were analyzed to look for mutations in these genes. 10.2% of patients had pathogenic mutations: two in BRCA2, one in TP53, and one in PALB2. Many benign or uncertain variants were also found. Most of the affected women were between 46 and 50 years old, and more than half had a family history of breast cancer. The study used advanced technologies such as genetic sequencing with Ion Torrent and validation with Sanger sequencing. The results demonstrate the importance of including genetic testing in the healthcare system, especially for women with a family history, as it allows for earlier risk detection, preventive decisions such as mastectomies or more frequent follow-ups, and improves personalized treatment options.
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leidy cristina ramirez medina
Colombia
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