Publications by authors named "Magalie Peysselon"
Article Synopsis
- A significant number of hereditary colorectal cancer (CRC) and colonic polyposis cases are not linked to known risk genes like MMR, APC, and MUTYH.
- New potential predisposition genes have been identified, with rare variants found in genes such as NTLH1, AXIN2, RNF43, BUB1, and TP53 in nine patients suspected of inherited CRC/polyposis.
- Seven of these variants were deemed pathogenic or likely pathogenic, suggesting they may account for up to 2.7% of inherited CRC cases and highlight the importance of genetic testing for better screening and counseling for affected families.
Article Synopsis
- A study on a 49-year-old Caucasian woman with an aggressive breast tumor found two pathogenic variants in cancer-predisposing genes using targeted next-generation sequencing.
- One variant was confirmed through multiplex ligation probe amplification, while the other was classified as likely pathogenic after functional studies, indicating its potential role in cancer development.
- The research highlights the need for better management of patients with rare double-heterozygous genotypes, especially as genetic testing evolves from targeted BRCA sequencing to broader hereditary cancer panels.
The POLD1 gene is involved in DNA proofreading to ensure accurate DNA replication. Some germline alterations in its exonuclease domain are associated with predisposition to cancers and colonic polyps. Only a few pathogenic variants have been clearly identified so far.
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