Results 11 to 20 of about 114,676 (292)

Complex Germline K757N Mutation in Non-Small-Cell Lung Cancer: A Case Report

Case Reports in Oncology, 2022
Epidermal growth factor receptor (EGFR) mutations are usually oncogenic drivers of lung tumor development and progression. While common sensitizing mutations respond well to targeted therapy, the relevance of germline EGFR mutations is less clear.
Boaz Wong, Sara Moore, Paul Wheatley-Price   +2 more
doaj   +1 more source

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Hereditary Cancer in Clinical Practice, 2021
DNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair function and cause genome instability.
Min Zhang, Tianhui Chen
doaj   +1 more source

A modified screening strategy for Lynch syndrome among MLH1-deficient CRCs: Analysis from consecutive Chinese patients in a single center

Translational Oncology, 2021
Background: The low prevalence of the BRAF V600E mutation in colorectal cancers (CRCs) in Chinese populations has stimulated concern about the efficacy of BRAF mutation analysis for Lynch syndrome (LS) screening.
Wenmiao Wang, Jianming Ying, Susheng Shi, Qiurong Ye, Shuangmei Zou, Lin Dong, Ning Lyu   +6 more
doaj   +1 more source

Impact of BRCA1/2 germline mutation on the incidence of second primary cancer following postoperative radiotherapy in patients with triple-negative breast cancer [PDF]

Zhongguo aizheng zazhi
Background and purpose: BRCA1/2 plays an important role in maintaining the genome stability. Whether BRCA1/2 germline mutation could increase the tumor sensitivity to radiotherapy, thereby inducing secondary primary cancer after radiotherapy is unclear ...
HU Xiaoyu, CAI Yuwen, YE Fugui, SHAO Zhimin, HU Weigang, YU Keda
doaj   +1 more source

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

BMC Cancer, 2020
Background Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant ...
Ava Kwong, Vivian Yvonne Shin, Cecilia Y. S. Ho, Chun Hang Au, Thomas P. Slavin, Jeffrey N. Weitzel, Tsun-Leung Chan, Edmond S. K. Ma   +7 more
doaj   +1 more source

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

BMC Cancer, 2022
Background Increasing germline gene mutations have been discovered in haematological malignancies with the development of next-generation sequencing (NGS), which is critical for proper clinical management and long-term follow-up of affected individuals ...
Xia Wu, Jili Deng, Nanchen Zhang, Xiaoyan Liu, Xue Zheng, Tianyou Yan, Wu Ye, Yuping Gong   +7 more
doaj   +1 more source

Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer

Frontiers in Genetics, 2022
Background: Bowel cancer is the third-most common cancer and the second leading cause of cancer-related death worldwide. Bowel cancer has a substantial hereditary component; however, additional hereditary risk factors involved in bowel cancer ...
Zhengyong Xie, Yongli Ke, Junyong Chen, Zehang Li, Changzheng Wang, Yuhong Chen, Hongliang Ding, Liyang Cheng   +7 more
doaj   +1 more source

Origins and characterization of variants shared between databases of somatic and germline human mutations

BMC Bioinformatics, 2020
Background Mutations arise in the human genome in two major settings: the germline and the soma. These settings involve different inheritance patterns, time scales, chromatin structures, and environmental exposures, all of which impact the resulting ...
William Meyerson, John Leisman, Fabio C. P. Navarro, Mark Gerstein   +3 more
doaj   +1 more source

Germline mutations: many roles in leukemogenesis

Current Opinion in Hematology, 2020
Purpose of review The purpose of this review is to summarize the current understanding of germline mutations as they contribute to leukemia development and progression. We also discuss how these new insights may help improve clinical management of germline mutations associated with leukemia ...
Kevin Z, Chen, Rafi, Kazi, Christopher C, Porter, Cheng-Kui, Qu   +3 more
openaire   +3 more sources

Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

Frontiers in Endocrinology, 2020
Background: Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same REarranged during Transfection (RET)
Jes Sloth Mathiesen, Jes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, Katalin Kiss, Karin Wadt, Anne Pernille Hermann, Morten Frost Nielsen, Stine Rosenkilde Larsen, Klaus Brusgaard, Anja Lisbeth Frederiksen, Christian Godballe, Maria Rossing   +12 more
doaj   +1 more source