Results 1 to 10 of about 111,482 (159)

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia [PDF]

Biomedicines, 2023
Introduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as DDX41 germline mutation associated with familial AML. Case presentation: A
Jan Nicolai Wagner, Maximilian Al-Bazaz, Anika Forstreuter, Mohammad Ibrahim Hammada, Jurek Hille, Dzhoy Papingi, Carsten Bokemeyer, Walter Fiedler   +7 more
doaj   +2 more sources

The Impact of DNA Methylation Dynamics on the Mutation Rate During Human Germline Development

G3: Genes, Genomes, Genetics, 2020
DNA methylation is a dynamic epigenetic modification found in most eukaryotic genomes. It is known to lead to a high CpG to TpG mutation rate. However, the relationship between the methylation dynamics in germline development and the germline mutation ...
Yijia Zhou, Funan He, Weilin Pu
exaly   +3 more sources

TET2 germline mutation in a patient with sequential lymphoid malignancies: a novel case report [PDF]

Annals of Hematology
We report a case of a 30-year-old male patient with a germline heterozygous TET2 R1354fs mutation, who successively developed three distinct lymphoid malignancies: mixed cellularity classical Hodgkin lymphoma (MCCHL), angioimmunoblastic T-cell lymphoma ...
Xia Mao, Kefeng Shen, Jin Wang, Zhiqiong Wang, Qilin Ao, Chunyan Wang, Min Xiao   +6 more
doaj   +2 more sources

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples [PDF]

Nature Communications
Mutations that accumulate in the human male germline with age are a major driver of genetic diversity and contribute to genetic diseases. However, aging-related male germline mutation rates have not been measured directly in germline cells (sperm) at the
Jonathan E. Shoag, Amoolya Srinivasa, Caitlin A. Loh, Mei Hong Liu, Emilie Lassen, Shana Melanaphy, Benjamin M. Costa, Marta Grońska-Pęski, Nisrine T. Jabara, Shany Picciotto, Una Choi, Anyull D. Bohorquez, Christopher E. Barbieri, Pamela Callum, Anne-Bine Skytte, Gilad D. Evrony   +15 more
doaj   +2 more sources

Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large‐Scale Genomic Analysis of 1094 Patients [PDF]

Cancer Medicine
Objective To investigate the prevalence, characteristics, and clinical implications of germline mutations in a consecutive cohort of Chinese colorectal cancer (CRC) patients, providing insights that may inform population‐specific genetic testing ...
Liting Lu, Xinyu Peng, Jiaxin Zhang, Yixin Ding, Junliang Lu, Hengxue Lin, Huanwen Wu, Xicheng Wang, Yi Ba   +8 more
doaj   +2 more sources

Contrasting Determinants of Mutation Rates in Germline and Soma [PDF]

Genetics, 2017
Abstract Recent studies of somatic and germline mutations have led to the identification of a number of factors that influence point mutation rates, including CpG methylation, expression levels, replication timing and GC content.
Hongjian Qi, Yufeng Shen, Joseph Pickrell   +2 more
exaly   +3 more sources

Germline mutations predisposing to melanoma [PDF]

Journal of Cutaneous Pathology, 2020
AbstractNearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1 ...
Atrin Toussi, Nicole Mans, Jeanna Welborn, Maija Kiuru   +3 more
openaire   +4 more sources

A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature

JTO Clinical and Research Reports, 2022
Introduction: Germline CHEK2 mutations are rare and have not been associated with increased risk of NSCLC. Methods: We identified two sequential primary NSCLCs harboring distinct actionable driver alterations (EGFR E746 _S752 delinsV and CD74-ROS1) in a ...
Shannon S. Zhang, MD, Jessica K. Lee, MSc, Hanna Tukachinsky, PhD, Alexa B. Schrock, PhD, Misako Nagasaka, MD, PhD, Sai-Hong Ignatius Ou, MD, PhD   +5 more
doaj   +1 more source

Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.

PLoS ONE, 2020
Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone.
Weston R Bodily, Brian H Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R Piccolo   +7 more
doaj   +2 more sources

Retinoblastoma in twins: Risk assessment of genotypic variants

Indian Journal of Ophthalmology, 2021
Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB). Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed. Results:
Vishal Raval, Meghan DeBenedictis, Randy Bowen, Hansell Soto, Jacquelyn Davanzo, Arun Singh   +5 more
doaj   +1 more source