Results 191 to 200 of about 13,351 (224)

Colorectal cancer in a 13‐year‐old with constitutional mismatch repair deficiency and MUTYH heterozygosity

JPGN Reports, EarlyView.
Abstract Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer syndrome resulting from biallelic mutations in DNA mismatch repair (MMR) genes that lead to early‐onset cancers in children, including lymphoma and colorectal cancer (CRC).
Chloe J. Cohan, Caroline Chinchilla Putzeys, Brianna Pruniski, Paul Tran   +3 more
wiley   +1 more source

Germline Mutations in an Intermediate Chain Dynein Cause Primary Ciliary Dyskinesia

, 2001
Maimoona A. Zariwala, Peadar G. Noone, Aruna Sannuti, Susan L. Minnix, Zhaoqing Zhou, Margaret W. Leigh, Milan J. Hazucha, Johnny L. Carson, Michael R. Knowles   +8 more
openalex   +2 more sources

Hormone Receptor Positive Breast Cancer in Young Women: A Review

Journal of Surgical Oncology, EarlyView.
ABSTRACT The global incidence of hormone‐positive breast cancer (HR+ BC) in young women is rising, though the underlying reasons remain unclear. HR+ disease in younger women appears to represent a distinct clinical entity compared to that in older women, exhibiting distinct clinicopathological characteristics, outcomes and responses to treatment ...
Nicola McShane, Alexandra Zaborowski, Mary O'Reilly, Damian McCartan, Ruth Prichard   +4 more
wiley   +1 more source

Molecular Classification of Endometrial Cancers Using an Integrative DNA Sequencing Panel

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background and Objectives Adoption of molecular classification in endometrial cancer (EC) into clinical practice remains challenging due to complexity in coordination of multiple assays. We aimed to develop a simple molecular technique to classify ECs into four subgroups using our custom‐designed targeted sequencing panel.
Soyoun R. Kim, Leslie Oldfield, Raymond H. Kim, Osvaldo Espin‐Garcia, Kathy Han, Danielle Vicus, Lua Eiriksson, Alicia Tone, Aaron Pollett, Matthew Cesari, Blaise Clarke, Marcus Q. Bernardini, Trevor J. Pugh, Sarah E. Ferguson   +13 more
wiley   +1 more source

Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co‐Alterations and Outcomes

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Biliary tract cancers (BTCs) represent distinct biological and genomic entities. Anatomic and geographic heterogeneity in genomic profiling of BTC subtypes, genomic co‐alterations, and their impact on long‐term outcomes are not well defined.
Diamantis I. Tsilimigras, Hunter Stecko, Dimitrios Moris, Timothy M. Pawlik   +3 more
wiley   +1 more source

Expert Consensus on the Diagnosis and Treatment of Malignant Pericardial Mesothelioma

Med Research, EarlyView.
ABSTRACT Primary malignant pericardial mesothelioma (PMPM), a rare pericardium‐derived malignancy, urgently requires standardized diagnostic and therapeutic protocols. This consensus, established by the Chinese Alliance of Research for Mesothelioma (ChARM) through the integration of evidence‐based research and multicenter clinical expertise, addresses ...
Qing Ji, Chunwei Xu, Qian Wang, Wenxian Wang, Zhenying Guo, Ziming Li, Zhengbo Song, Aijun Liu, Jinpu Yu, Wenzhao Zhong, Zhijie Wang, Wenfeng Fang, Yongchang Zhang, Jingjing Liu, Shirong Zhang, Xiuyu Cai, Anwen Liu, Ping Zhan, Hongbing Liu, Tangfeng Lv, Liyun Miao, Lingfeng Min, Gen Lin, Long Huang, Chen Yu, Jingping Yuan, Zhansheng Jiang, Feng Wang, Xingxiang Pu, Chuangzhou Rao, Dongqing Lv, Yinghua Ji, Xianbin Liang, Zongyang Yu, Xiaoyan Li, Chuanhao Tang, Chengzhi Zhou, Junping Zhang, Xuelei Ma, Hui Guo, Qian Chu, Rui Meng, Jingxun Wu, Huaiqing Xiao, Jin Zhou, Zhengfei Zhu, Hongmei Zhang, Yingshi Piao, Xiaofeng Chen, Xuewen Liu, Enyong Dai, Yu Yao, Jian Zhang, Weiwei Pan, Fei Pang, Fan Wu, Zhiying Shao, Ling Xu, Liping Wang, Jianfei Tu, Yu Zhang, Xinqing Lin, Jing Cai, Jian Feng, Jisheng Li, Xiaodong Jiao, Kainan Li, Huijing Feng, Lin Wang, Yingying Du, Binbin Song, Xuefei Shi, Wenfeng Li, Xiaomin Niu, Jianhui Huang, Yina Wang, Yue Feng, Yinbin Zhang, Pingli Sun, Hong Wang, Dongmei Yuan, Yanwen Yao, Dong Wang, Mingxiang Ye, Zhaofeng Wang, Yue Hao, Jianan Jin, Zhen Wang, Bing Wan, Donglai Lv, Shengjie Yang, Lin Shi, Bihui Li, Zhang Zhang, Zhongwu Li, Zhefeng Liu, Nong Yang, Lin Wu, Miao Li, Xiaobing Li, Guansong Wang, Jiandong Wang, Yong Fang, Yuan Li, Yiping Zhang, Xixu Zhu, Yi Shen, Ke Wang, Shenglin Ma, Yong Song, Youcai Zhu, Yuanzhi Lu, Meiyu Fang   +112 more
wiley   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

BMP signalling in colorectal cancer: losing the yin to WNTs yang

The Journal of Pathology, EarlyView.
Abstract Colorectal cancer (CRC) is the third most common form of cancer globally, and arises from the hyperproliferation of epithelial cells in the intestine. The architecture and maintenance of these cells is governed by two major signalling pathways working in a counter‐gradient: the stem cell WNT signalling pathway, and the prodifferentiation bone ...
Eloise Clarkson, Annabelle Lewis
wiley   +1 more source

Venetoclax Alone or in Combination With Chemotherapy in Paediatric and Adolescent/Young Adult Patients With Relapsed/Refractory Acute Myeloid Leukaemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Venetoclax is a potent, oral BCL‐2 inhibitor approved as combination therapy for the treatment of adults with newly diagnosed acute myeloid leukaemia (AML) who are ineligible for intensive chemotherapy. This study evaluated the safety and preliminary efficacy of venetoclax alone or combined with chemotherapy in paediatric and ...
Seth E. Karol, Seong L. Khaw, C. Michel Zwaan, Andre Baruchel, Henrique Bittencourt, Todd M. Cooper, Christian Flotho, Christopher Fraser, Christopher J. Forlenza, Kelly C. Goldsmith, Margaret E. Macy, Daniel A. Morgenstern, Maureen M. O'Brien, Arnaud Petit, David S. Ziegler, Dirk Reinhardt, Joseph T. Opferman, Jeffrey E. Rubnitz, Maika Onishi, Diana R. Dunshee, Fengjiao Dunbar, Deeksha Vishwamitra, Jeremy A. Ross, Xin Chen, Kristina Unnebrink, Maja Kammerlander, Ahmed Hamed Salem, Tammy L. Palenski, Gauri Sunkersett, Andrew E. Place   +29 more
wiley   +1 more source

Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Rubinstein‐Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant disorder characterized by craniofacial dysmorphism, broad halluces and thumbs, variable structural abnormalities and intellectual disability. It is caused by a pathogenic variant in the CREBBP or EP300 genes.
Laurence S. Carmant, Elka Miller, Susan Blaser, Patrick Shannon, Karen Chong, David Chitayat, Shiri Shinar   +6 more
wiley   +1 more source