Results 21 to 30 of about 116,502 (262)

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

Germline mutations and blood malignancy (Review)

Oncology Reports, 2020
Germline mutations are congenital genetic mutations in germ cells that originate from sperm or ovum and are generally incorporated into every cell of the offspring's body. Somatic mutations are acquired genetic mutations that form under the influence of environmental factors during embryo formation and epigenetic development.
Yuping, Gong, Jili, Deng, Xia, Wu
openaire   +3 more sources

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

Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) [PDF]

Zhongguo aizheng zazhi
Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can ...
China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee
doaj   +1 more source

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

Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer

BMC Cancer, 2019
Background Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the United States.
Tarun Karthik Kumar Mamidi, Jiande Wu, Chindo Hicks   +2 more
doaj   +1 more source

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. [PDF]

PLoS Genetics, 2012
Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times ...
Soo-Kyung Choi, Song-Ro Yoon, Peter Calabrese, Norman Arnheim   +3 more
doaj   +1 more source

The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

eLife, 2022
In the past decade, several studies have estimated the human per-generation germline mutation rate using large pedigrees. More recently, estimates for various nonhuman species have been published.
Lucie A Bergeron, Søren Besenbacher, Tychele Turner, Cyril J Versoza, Richard J Wang, Alivia Lee Price, Ellie Armstrong, Meritxell Riera, Jedidiah Carlson, Hwei-yen Chen, Matthew W Hahn, Kelley Harris, April Snøfrid Kleppe, Elora H López-Nandam, Priya Moorjani, Susanne P Pfeifer, George P Tiley, Anne D Yoder, Guojie Zhang, Mikkel H Schierup   +19 more
doaj   +1 more source