Publications by authors named "Norma Teresa Rossi"
Article Synopsis
- Dominantly inherited micro-satellite instable (MSI) cancers, linked to mutations in mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2), challenge traditional views of cancer development and are associated with unique syndromes known as Lynch syndromes.
- Each Lynch syndrome has distinct risks and expressions, and it’s crucial to consider factors like specific gene mutation and sex when studying these cancers.
- Advances in colonoscopy surveillance, aspirin usage, and immunotherapy represent significant progress in personalized medicine for managing and preventing inherited MSI cancers.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
EClinicalMedicine
April 2023
Article Synopsis
- The Prospective Lynch Syndrome Database (PLSD) gathers data on individuals with MMR variants to study cancer diagnosis and treatment outcomes, focusing on a newly expanded cohort.
- The study includes over 8,500 patients from 25 countries, analyzing cancer incidence, mortality rates up to age 75, and survival rates after diagnosis.
- Findings reveal that while gynecological cancers have high incidence rates among carriers, non-colorectal cancers lead to more deaths, highlighting the need for improved care for these patients.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
October 2022
Article Synopsis
- - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
- - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
- - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
[Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina].
Rev Fac Cien Med Univ Nac Cordoba
September 2022
Introduction: Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes.
Objectives: To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Argentina and compare it with those without BRCA1/2 mutations.
Methods: Cross-sectional, correlational and observational analysis of patients from Córdoba.
Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts' recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries.
View Article and Find Full Text PDFWe aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries, comprising a total of 12 countries from the region. Overall, 33 centres completed the survey, of which the oldest LS registry was established in 1992 in Sao Paulo (Brazil), and the youngest this year in San Jose (Costa Rica).
View Article and Find Full Text PDFColorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence.
View Article and Find Full Text PDFBackground: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America.
Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome.
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.
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