Publications by authors named "Nitzan Sharon Shwartzman"
Mutations in the BRCA1 and BRCA2 genes increase the risk for various cancers including breast, ovarian, prostate, pancreas and melanoma. Identifying BRCA1/2 mutation carriers enables risk assessment, surveillance, early detection and risk reduction. In certain Israeli sub-populations recurring and founder mutations have been identified and for these, testing for founder mutations is simple, efficient and cost-effective.
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- Chromosomal instability, often linked to cancer, is rarely found in healthy tissue, highlighting the importance of DNA repair genes in preventing hereditary cancer syndromes.
- The study focused on two unrelated patients with unique cancer syndromes: one with multiple organ tumors and the other with early-onset acute myeloid leukemia, both displaying distinct chromosomal abnormalities in their blood.
- Genetic testing revealed both patients shared a specific homozygous mutation, which, along with abnormal karyotypes, suggests a connection between the CHK2 gene and increased susceptibility to cancer through faulty DNA repair mechanisms.