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Profil bibliographique

Matilde Borio

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

3Publications signalées
2Citations signalées
2Affiliations récentes

Les institutions déclarées

Les domaines associés

Genetic factors in colorectal cancerColorectal Cancer Screening and DetectionCancer Genomics and DiagnosticsGenomics and Rare DiseasesImmunodeficiency and Autoimmune Disorders

Les publications récentes

2025 article OpenAlex

Neoplasia Detection Through Colonic Surveillance Among Young Individuals With MSH6/PMS2-Associated Lynch Syndrome

Alicia J. Latham, Ying L. Liu, Gillain Constantino, Matilde Borio et autres

INTRODUCTION: The age to initiate colonoscopy in MSH6 / PMS2 -associated Lynch syndrome (LS) remains uncertain. In this study, we characterize colonoscopy findings among young individuals with MSH6 / PMS2 -associated LS. METHODS: Retrospective review of a multi-institutional cohort of individuals with …

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1 citation The American Journal of Gastroenterology
Accès ouvert 2024 preprint OpenAlex

Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees

Melissa Kramer, Sara Goodwin, Robert L. Wappel, Matilde Borio et autres

Abstract Despite significant advances in our understanding of genetic cancer susceptibility, known inherited cancer predisposition syndromes explain at most 20% of early-onset cancers. As early-onset cancer prevalence continues to increase, the need to assess previously inaccessible areas of the human genome, harnessing …

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1 citation bioRxiv (Cold Spring Harbor Laboratory)
Accès ouvert 2023 conference-abstract OpenAlex

Neoplasia detection via colonoscopic surveillance among young patients with MSH6 and PMS2-associated Lynch syndrome.

Alicia J. Latham, Ying L. Liu, Gillain Constantino, Matilde Borio et autres

10516 Background: Lynch syndrome (LS) is the most common colorectal cancer (CRC) predisposition syndrome. While patients (pts) with MLH1/ MSH2-associated LS are recommended to start colonoscopy between age 20-25, recent guidelines recommend delaying initiation in pts with MSH6/ PMS2-associated LS to age …

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0 citations Journal of Clinical Oncology

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