A new hereditary form of breast cancer discovered.
Posted by giorgiobertin on April 30, 2024
A team of IEO doctors and researchers has discovered a new hereditary form of breast cancer, associated with the CDH1 gene, which differs entirely from the classic hereditary breast cancer syndrome, caused by known mutations in the BRCA1 and 2 genes.
“Our discovery defines a new syndrome called “hereditary lobular breast cancer” associated with the CDH1 gene. We have in fact identified pathogenic mutations of the CDH1 gene in women operated on for lobular breast cancer. We then investigated the reason for this presence and discovered that this gene, already known for the predisposition of hereditary gastric carcinoma, is also linked to a new rare variant of lobular tumor, which occurs mainly in young women under 45 years of age at diagnosis, or with a positive family history of breast cancer, or with bilateral breast cancer” explains the prof. Course.
“Our discovery has important clinical implications because we have the tools to protect women with the new hereditary lobular breast cancer syndrome“. say the researchers.
Read abstract of the article:
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype
Giovanni Corso, MD, PhD; Elena Marino, PhD; Cristina Zanzottera, MD; Carla Oliveira, PhD; Loris Bernard, CLT;…. et al.
JAMA Network Open. 2024; 7(4):e247862. 10.1001/nationalnetworkpen.2024.7862
Source: Wired.it
This entry was posted on aprile 30, 2024 a 5:21 PM and is filed under News-ricerca.
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