Publications by authors named "P G MONDINI"
The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these variants on cancer risks is mostly unknown, posing a serious problem for genetic counseling in these individuals and their relatives, in whom the variants may segregate singly or in combination. We report a female patient who developed triple-negative high grade carcinoma in the right breast at the age of 36 years.
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- Wilms tumour (WT) is the most common malignant kidney tumor in children, characterized by significant genetic and epigenetic diversity, particularly involving 11p15 chromosome imprinting and various gene mutations.
- An analysis of 96 WT samples revealed new potential gene candidates linked to WT development, including notable focal regions and hotspot mutations, with a specific mutation found in 7.3% of cases.
- The study further identified rare missense and splicing mutations, most occurring at the germline level, and significant promoter methylation in a large percentage of cases, contributing to the understanding of genetic factors influencing WT susceptibility.
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3.
View Article and Find Full Text PDFAims And Background: Lynch syndrome (LS) is clinically defined by the Amsterdam criteria (AC) and by germline mutations in mismatch-repair (MMR) genes leading to microsatellite instability (MSI) at the molecular level. Patients who do not fulfil AC are considered suspected-Lynch according to the less stringent Bethesda guidelines (BG) and should be tested for MSI and MMR germline mutations. BRAF mutations have been proposed as a marker to exclude LS because they are generally absent in LS patients and present in sporadic colorectal cancer (sCRC) with MSI due to promoter hypermethylation of the MLH1 gene.
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