Results 21 to 30 of about 390,058 (293)

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort

Scientific Reports, 2023
Population-based estimates of pathogenic variation burden in gynecologic cancer predisposition genes are a prerequisite for the development of effective precision public health strategies.
Urška Kotnik, Aleš Maver, Borut Peterlin, Luca Lovrecic   +3 more
doaj   +1 more source

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]

, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo, Bianchi, Simonetta, Bonanni, Bernardo, Bucalo, Agostino, Calistri, Daniele, Catucci, Irene, Coppa, Anna, Cortesi, Laura, Manoukian, Siranoush, Masala, Giovanna, Montagna, Marco, Ottini, Laura, Palli, Domenico, Peterlongo, Paolo, Radice, Paolo, Rizzolo, Piera, Russo, Antonio, Silvestri, Valentina, Spinelli, Alessandro Mauro, Tibiletti, Maria Grazia, Tommasi, Stefania, Valentini, Virginia, Varesco, Liliana, Viel, Alessandra, Zanna, Ines, Zelli, Veronica   +25 more
core   +3 more sources

Investigating the OXA Variants of ESKAPE Pathogens [PDF]

Antibiotics, 2021
ESKAPE pathogens are the leading cause of nosocomial infections. The Global Priority List of WHO has categorized ESKAPE as priority 1 and 2 pathogens. Even though several mechanisms contribute to antimicrobial resistance, OXA β-lactamase has emerged as a new threat in combating nosocomial infections.
Deeksha Pandey, Neelja Singhal, Manish Kumar   +2 more
openaire   +3 more sources

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]

, 2017
Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam, Aghazadeh, Nessa, Bagherian, Hamideh, Barzegar, Mohammadreza, Fortina, Paolo, Hamid, Mohammad, Mahmoudi, Hamidreza, Norouz-zadeh, Sara, Saeidian, Amir Hossein, Sotoudeh, Soheila, Touati, Andrew, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zahabiyon, Mahla, Zeinali, Sirous   +15 more
core   +1 more source

A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundLeft ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated.
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E. Bowles, Fukiko Ichida   +14 more
doaj   +1 more source

MutationDistiller: user-driven identification of pathogenic DNA variants [PDF]

, 2019
MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who are not necessarily bioinformaticians.
Ehmke, Nadja, Fischer-Zirnsak, Björn, Hombach, Daniela, Knierim, Ellen, Schuelke, Markus, Schwarz, Jana Marie, Seelow, Dominik   +6 more
core   +1 more source

Pathogenic Variants in GPC4 Cause Keipert Syndrome [PDF]

The American Journal of Human Genetics, 2019
Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the ...
Amor, David J, Stephenson, Sarah E M, Mustapha, Mirna, Mensah, Martin A, Ockeloen, Charlotte W, Lee, Wei Shern, Tankard, Rick M, Phelan, Dean G, Shinawi, Marwan, de Brouwer, Arjan P M, Pfundt, Rolph, Dowling, Cari, Toler, Tomi L, Sutton, V Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J, Delatycki, Martin B, Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J, Lockhart, Paul J   +29 more
openaire   +6 more sources

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

Molecular Genetics & Genomic Medicine, 2020
Background Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce.
Chieh‐Wen Kuo, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ching Hsu, Miao‐Zi Hung, I‐Lin Lin, Feipei Lai, Ni‐Chung Lee   +7 more
doaj   +1 more source

Novel Insights From the Germline Landscape of Breast Cancer in Brazil

Frontiers in Oncology, 2022
IntroductionBreast cancer patients with germline pathogenic variants may benefit from risk-reducing surgeries, intensive screening, and targeted cancer therapies.
Daniel Barbalho, Renata Sandoval, Erika Santos, Janina Pisani, Carla Quirino, Bernardo Garicochea, Bernardo Garicochea, Benedito Rossi, Maria Isabel Achatz   +8 more
doaj   +1 more source

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity [PDF]

, 2019
The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign
Adamovich, Aleksandra I, Banerjee, Tapahsama, Chen, Feng, Ding, Li, Duncan, Kathryn, Huang, Kuan-lin, Lee, Cindy, Ning, Jie, Parvin, Jeffrey D, Rodrigues, Fernanda Martins, Wingo, Margaret   +10 more
core   +3 more sources