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Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

Introduction: Recent advances in sequencing technologies have significantly increased our capability to acquire large amounts of genetic data. However, the clinical relevance of the generated data continues to be challenging particularly with the identification of Variants of Uncertain Significance...

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Huvudupphov: Maroua Boujemaa, Fatma Nouira, Nouha Jandoubi, Nesrine Mejri, Hanen Bouaziz, Cherine Charfeddine, Sonia Ben Nasr, Soumaya Labidi, Houda El Benna, Yosra Berrazega, Haifa Rachdi, Nouha Daoud, Farouk Benna, Abderrazek Haddaoui, Sonia Abdelhak, Mohamed Samir Boubaker, Hamouda Boussen, Yosr Hamdi
Materialtyp: Artigo
Språk:Inglês
Utgiven: Frontiers Media S.A. 2024-01-01
Serie:Frontiers in Genetics
Ämnen:
variants of uncertain significance
clinical relevance
DNA repair genes
breast cancer
pathogenicity predictions
segregation analysis
Länkar:https://www.frontiersin.org/articles/10.3389/fgene.2024.1327894/full
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