Results 21 to 30 of about 208,660 (254)

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples

BMC Bioinformatics, 2018
Background Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations.
Ivan P. Gorlov, Claudio W. Pikielny, Hildreth R. Frost, Stephanie C. Her, Michael D. Cole, Samuel D. Strohbehn, David Wallace-Bradley, Marek Kimmel, Olga Y. Gorlova, Christopher I. Amos   +9 more
doaj   +1 more source

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.

PLoS Genetics, 2022
Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs.
Ja Hye Kim, Shinwon Hwang, Hyeonju Son, Dongsun Kim, Il Bin Kim, Myeong-Heui Kim, Nam Suk Sim, Dong Seok Kim, Yoo-Jin Ha, Junehawk Lee, Hoon-Chul Kang, Jeong Ho Lee, Sangwoo Kim   +12 more
doaj   +1 more source

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

BMC Cancer, 2018
Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens, E. Lalonde, J. Richards-Yutz, C. L. Shields, A. Ganguly   +4 more
doaj   +1 more source

Age-related somatic mutation burden in human tissues

Frontiers in Aging, 2022
The genome of multicellular organisms carries the hereditary information necessary for the development of all organs and tissues and to maintain function in adulthood.
Peijun Ren, Xiao Dong, Jan Vijg, Jan Vijg   +3 more
doaj   +1 more source

Somatic genetic alterations predict hematological progression in GATA2 deficiency

Haematologica, 2023
Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients.
Laetitia Largeaud, Matthew Collin, Nils Monselet, Francois Vergez, Vincent Fregona, Lise Larcher, Pierre Hirsch, Nicolas Duployez, Audrey Bidet, Isabelle Luquet, Jacinta Bustamante, Stephanie Dufrechou, Nais Prade, Marie Nolla, Camille Hamelle, Suzanne Tavitian, Christophe Habib, Mateo Meynier, Christine Bellanne-Chantelot, Jean Donadieu, Flore Sicre de Fontbrune, Claire Fieschi, Alina Ferster, Francois Delhommeau, Eric Delabesse, Marlene Pasquet   +25 more
doaj   +1 more source

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

PLoS ONE, 2015
Previous genetic studies on colorectal carcinomas (CRC) have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways) on populations of European ancestry.
Chao Ling, Lin Wang, Zheng Wang, Luming Xu, Lifang Sun, Hui Yang, Wei-Dong Li, Kai Wang   +7 more
doaj   +1 more source

Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients. [PDF]

PLoS ONE, 2011
In the past decade, a high incidence of somatic mitochondrial DNA (mtDNA) mutations has been observed, mostly based on a fraction of the molecule, in various cancerous tissues; nevertheless, some of them were queried due to problems in data quality ...
Cheng-Ye Wang, Hui Li, Xiao-Dan Hao, Jia Liu, Jia-Xin Wang, Wen-Zhi Wang, Qing-Peng Kong, Ya-Ping Zhang   +7 more
doaj   +1 more source

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. [PDF]

PLoS ONE, 2017
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood.
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot   +4 more
doaj   +1 more source

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma

Scientific Reports, 2023
A hallmark of cancer is a tumor cell’s ability to evade immune destruction. Somatic mutations in tumor cells that prevent immune destruction have been extensively studied.
Ramu Anandakrishnan, Ian J. Zyvoloski, Lucas R. Zyvoloski, Nana K. Opoku, Andrew Dai, Veneeth Antony   +5 more
doaj   +1 more source

Aging and the rise of somatic cancer-associated mutations in normal tissues. [PDF]

PLoS Genetics, 2018
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells accumulate mutations during development and aging, generating cells with different genotypes within the same individual, a phenomenon known as somatic mosaicism.
Rosa Ana Risques, Scott R Kennedy
doaj   +1 more source