عرض بسيط للتسجيلة

المؤلفCrovella, Sergio
المؤلفMoura, Ronald Rodrigues
المؤلفBrandão, Lucas
المؤلفVita, Francesca
المؤلفSchneider, Manuela
المؤلفZanconati, Fabrizio
المؤلفFinotto, Luigi
المؤلفZacchi, Paola
المؤلفZabucchi, Giuliano
المؤلفBorelli, Violetta
تاريخ الإتاحة2022-12-20T09:17:54Z
تاريخ النشر2022-11-01
اسم المنشورInternational Journal of Molecular Sciences
المعرّفhttp://dx.doi.org/10.3390/ijms232113628
الاقتباسCrovella, S.; Moura, R.R.; Brandão, L.; Vita, F.; Schneider, M.; Zanconati, F.; Finotto, L.; Zacchi, P.; Zabucchi, G.; Borelli, V. Variant Enrichment Analysis to Explore Pathways Disruption in a Necropsy Series of Asbestos-Exposed Shipyard Workers. Int. J. Mol. Sci. 2022, 23, 13628. https://doi.org/10.3390/ijms232113628
الرقم المعياري الدولي للكتاب16616596
معرّف المصادر الموحدhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85141840781&origin=inward
معرّف المصادر الموحدhttp://hdl.handle.net/10576/37422
الملخصThe variant enrichment analysis (VEA), a recently developed bioinformatic workflow, has been shown to be a valuable tool for whole-exome sequencing data analysis, allowing finding differences between the number of genetic variants in a given pathway compared to a reference dataset. In a previous study, using VEA, we identified different pathway signatures associated with the development of pulmonary toxicities in mesothelioma patients treated with radical hemithoracic radiation therapy. Here, we used VEA to discover novel pathways altered in individuals exposed to asbestos who developed or not asbestos-related diseases (lung cancer or mesothelioma). A population-based autopsy study was designed in which asbestos exposure was evaluated and quantitated by investigating objective signs of exposure. We selected patients with similar exposure to asbestos. Formalin-fixed paraffin-embedded (FFPE) tissues were used as a source of DNA and whole-exome sequencing analysis was performed, running VEA to identify potentially disrupted pathways in individuals who developed thoracic cancers induced by asbestos exposure. By using VEA analysis, we confirmed the involvement of pathways considered as the main culprits for asbestos-induced carcinogenesis: oxidative stress and chromosome instability. Furthermore, we identified protective genetic assets preserving genome stability and susceptibility assets predisposing to a worst outcome.
راعي المشروعThis research was funded by grants from the Italian League for the Fight Against Cancer (LILT), ASSOCIAZIONE ISONTINA LILT (Bando di Ricerca sanitaria 2017-programma 5 per mille anno 2015) and Municipality of Monfalcone (Gorizia); Regione Autonoma Friuli-Venezia Giulia, Assessorato alla Salute e Protezione Sociale, LR 22/2001 (decree 1124/SPS, 09/20/2016, No. 1299); Institute for Maternal and Child Health IRCCS “Burlo Garofolo/Italian Ministry of Health” (BioHub 03/20); Interreg Italia-Slovenia, ISE-EMH 07/2019; and by Conselho Nacional de Desenvolvimento Científico e Tencológico (CNPq) from Brazil (311415/2020-2).
اللغةen
الناشرMDPI
الموضوعasbestos
FFPE (fixed in formalin and embedded in paraffin)
lung cancer
mesothelioma
variant enrichment analysis (VEA)
whole exome
العنوانVariant Enrichment Analysis to Explore Pathways Disruption in a Necropsy Series of Asbestos-Exposed Shipyard Workers
النوعArticle
رقم العدد21
رقم المجلد23
ESSN1422-0067
dc.accessType Open Access


الملفات في هذه التسجيلة

Thumbnail

هذه التسجيلة تظهر في المجموعات التالية

عرض بسيط للتسجيلة