Painting a portrait: Analysis of national health survey data for cancer genetic counseling by Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers

“…Abstract Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited. …”
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Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…The ethical implications of parents giving consent to genetic testing in their offspring and the potential disclosure of genetic diseases for which there are limited therapeutic options are still under debate. …”
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Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning by D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider

“…In 20–40 % of cases, molecular genetic testing fails to detect changes in the above genes. …”
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Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report by Mercedes Aguilar-Soto, Julia M. Zuarth-Vázquez, Laura Leyva-Figueroa, Karla Zarco-Ávila, Armando Gamboa-Domínguez, Aldo Eguiluz-Melendez, Laura C. Hernández-Ramírez

“…We also review the available data for and against a causal association between NF1 defects and pituitary tumors.MethodsOur patient was recruited via an ongoing prospective study of individuals with neuroendocrine neoplasms. Genetic testing was carried out by means of targeted next generation sequencing (NGS) and Sanger sequencing in blood and tumor DNA, respectively. …”
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series by Yuan Ding, Yuan Ding, Ming Cheng, Ming Cheng, Bingyan Cao, Bingyan Cao, Min Liu, Min Liu, Xuyun Hu, Xuyun Hu, Di Wu, Di Wu, Di Wu

“…Through our analysis, four novel variants of the HSD11B2 gene were identified, thereby enhancing the genotype-phenotype spectrum associated with AME. Early genetic testing in patients suspected of having AME is beneficial for facilitating prompt diagnosis and the implementation of standardized treatment protocols. …”
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Estudio genético en adultos con glomeruloesclerosis focal y segmentaria by Melissa Pilco-Terán, Amir Shabaka, Mónica Furlano, Ana Tato Ribera, Isabel Galán Carrillo, Eduardo Gutiérrez, Roser Torra, Gema Fernández-Juárez

“…Genetic causes of FSGS present significant clinical variability, complicating their identification. Genetic testing is crucial to identify FSGS of genetic cause. …”
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THE АNAPA AMPELOGRAPHIC COLLECTION IS THE LARGEST CENTER OF VINE GENE POOL ACCUMULATION AND RESEARCH IN RUSSIA by M. I. Pankin, V. S. Petrov, A. A. Lukianova, E. T. Ilnitskaya, G. E. Nikulushkina, A. G. Kovalenko, V. А. Bolshakov

“…We carry out a molecular genetic testing of the accumulated gene pool and DNA-classification of varieties. …”
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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett

“…Methods The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. …”
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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies by Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Natale Conti, Laura Cortesi, Rolando Maria D’Angelillo, Gaetano Facchini, Lorena Incorvaia, Alberto Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda, on behalf of the Italian Society of Uro-Oncology (SIUrO)

“…Expert recommendations emphasized offering tumor genetic testing to metastatic PCa patients eligible for PARP-i treatment and outlined criteria for genetic counseling and germline testing. …”
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Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

“…Abstract Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS). …”
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Clinical integration of germline findings from a tumor testing precision medicine program by Maria Carolina Sanabria-Salas, Nina C. Anggala, Brittany Gillies, Kirsten M. Farncombe, Renee Hofstedter, Larissa Peck, Helia Purnaghshband, Laura Redondo, Emily Thain, Wei Xu, Peter Sabatini, Philippe L. Bedard, Raymond H. Kim

“…Abstract Background Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. …”
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Evaluating the Effectiveness of Cyclin-Dependent Kinase 4/6 Inhibitors in Early- and Very Early-Onset Metastatic Breast Cancer: A Multicenter Study by Akif Doğan, Nurullah İlhan, Goncagül Akdağ, Sedat Yıldırım, Mustafa Seyyar, Zeynep Yüksel Yaşar, Hande Nur Erölmez, Heves Sürmeli, Buğra Öztosun, Özlem Nuray Sever, Hatice Odabaş, Mahmut Emre Yıldırım, Devrim Çabuk, Nedim Turan, Mahmut Gümüş

“…The findings underscore the urgent need for personalized treatment strategies, routine genetic testing, and dedicated clinical trials designed to address the specific needs of these high-risk subgroups. …”
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Bariatric Surgery as a Molecular Modulator: The Role of FSHR Polymorphisms in Enhancing eNOS Expression and Reproductive Hormone Dynamics in Women with Severe Obesity by Charalampos Voros, Despoina Mavrogianni, Kyriakos Bananis, Alexios Karakasis, Anthi-Maria Papahliou, Vasileios Topalis, Antonia Varthaliti, Raphail Mantzioros, Panagiota Kondili, Menelaos Darlas, Regina Sotiropoulou, Diamantis Athanasiou, Dimitris Mathiopoulos, Panagiotis Antsaklis, Dimitrios Loutradis, Georgios Daskalakis

“…These findings indicate the possibility of combining genetic testing and bariatric therapies to improve infertility treatment in obese women.…”
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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

“…Our results underscore the importance of parental genetic testing in all patients, regardless of whether the parents are affected, and highlights the implications of gonosomal mosaicism for genetic counseling.…”
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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China by Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng, Huiqiong Zhang, Zhiling Li, Yuxin Zhang, Min Yang

“…Methods A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022. …”
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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

“…The diagnostic yield was significantly higher in probands without prior genetic testing (37%; n = 185) compared to those previously tested, including exome and genome sequencing (23%; n = 335) (p = 0.001). …”
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Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…All patients who received the genetic test had the heterozygous frameshift mutation c.640_656dup (p.G220Pfs∗95) on exon 4 of the PITX3 gene. …”
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A Case Report of Thoracic Ectopia Cordis in a Hospital in Zanjan, Iran by Mehdi Hosseini, Hassan Zamani, Shadi Moghimi, Aref Nekoufar

“…Moreover, the noninvasive prenatal testing (NIPT) genetic test performed in the 10th week of pregnancy was evaluated. …”
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Development and implementation of a digiphysical screening model with nationwide reach to diagnose familial hypercholesterolemia by Karin Littmann, Gustav Kindborg, Matthias Lidin, Linda Mellbin, Daniel Eriksson Hogling, Jonas Brinck

“…Selective screening was performed in 2867 patients with coronary artery disease, 355 (12.4%) were identified with increased risk for FH and underwent a genetic test. Of these, 153 (3.8%) had a genetic test result and 52 (1.8%) were diagnosed with FH. …”
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The Usefulness of Genotyping of Celiac Disease-Specific HLA among Children with Type 1 Diabetes in Various Clinical Situations by Grazyna Deja, Dominika Sikora, Aleksandra Pyziak-Skupien, Karolina Klenczar, Rafał Deja, Przemysława Jarosz-Chobot

“…Results. The results of genetic tests confirmed the presence of DQ2/DQ8 in 94% of children with diabetes (group I) and in 100% of children with diabetes and CD (groups II and III, respectively). …”
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