Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

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作者： Antonella,Turchiano ^[1] ; Marilidia,Piglionica ^[1] ; Stefania,Martino ^[1] ; Rosanna,Bagnulo ^[1] ; Antonella,Garganese ^[1] ; Annunziata,De Luisi ^[1] ; Stefania,Chirulli ^[1] ; Matteo,Iacoviello ^[1] ; Michele,Stasi ^[1] ; Ornella,Tabaku ^[1] ; Eleonora,Meneleo ^[1] ; Martina,Capurso ^[1] ; Silvia,Crocetta ^[1] ; Simone,Lattarulo ^[1] ; Yevheniia,Krylovska ^[1] ; Patrizia,Lastella ^[2] ; Cinzia,Forleo ^[3] ; Alessandro,Stella ^[1] ; Nenad,Bukvic ^[1] ; Cristiano,Simone ^[1] ; Nicoletta,Resta ^[4]

作者单位： Medical Genetic, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy. ^[1] Rare Disease Center, Internal Medicine Unit "C. Frugoni", AOU Policlinico di Bari, 70124 Bari, Italy. ^[2] Cardiology Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy. ^[3] Medical Genetics, National Institute of Gastroenterology, "S. de Bellis" Research Hospital, Via Turi 27, Castellana Grotte, 70013 Bari, Italy. ^[4]

关键词 ATM CHEK2 PALB2 RAD51C RAD51D breast cancer moderate-penetrance genes

主题词人类(Humans);女(雌)性(Female);乳腺肿瘤(Breast Neoplasms);BRCA1蛋白质(BRCA1 Protein);外显率(Penetrance);BRCA2蛋白质(BRCA2 Protein);肾肿瘤(Kidney Neoplasms)

DOI 10.3390/genes14081530

PMID 37628581

发布时间 2023-08-29

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准确一般字义偏差语意偏离译文作用小提交