Results 31 to 40 of about 18,996,847 (344)

Finding driver mutations in cancer: Elucidating the role of background mutational processes. [PDF]

PLoS Comput Biol, 2019
Identifying driver mutations in cancer is notoriously difficult. To date, recurrence of a mutation in patients remains one of the most reliable markers of mutation driver status.
Brown AL, Li M, Goncearenco A, Panchenko AR.   +3 more
europepmc   +5 more sources

A phylogenetic approach to study the evolution of somatic mutational processes in cancer. [PDF]

Commun Biol, 2022
Cancer cell genomes change continuously due to mutations, and mutational processes change over time in patients, leaving dynamic signatures in the accumulated genomic variation in tumors. Many computational methods detect the relative activities of known
Miura S, Vu T, Choi J, Townsend JP, Karim S, Kumar S.   +5 more
europepmc   +2 more sources

Attribution of Cancer Origins to Endogenous, Exogenous, and Preventable Mutational Processes. [PDF]

Mol Biol Evol, 2022
Mutational processes in tumors create distinctive patterns of mutations, composed of neutral “passenger” mutations and oncogenic drivers that have quantifiable effects on the proliferation and survival of cancer cell lineages.
Cannataro VL, Mandell JD, Townsend JP.
europepmc   +2 more sources

Population sequencing data reveal a compendium of mutational processes in the human germ line. [PDF]

Science, 2021
Gauging the spectrum of human mutations It has become increasing clear that mutation affects phenotypic variation and disease risk across humans. However, there are many different types of mutation. Seplyarskiy et al.
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S.   +43 more
europepmc   +2 more sources

Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes. [PDF]

PLoS Genet, 2021
Genome alteration signatures reflect recurring patterns caused by distinct endogenous or exogenous mutational events during the evolution of cancer. Signatures of single base substitution (SBS) have been extensively studied in different types of cancer ...
Wang S, Li H, Song M, Tao Z, Wu T, He Z, Zhao X, Wu K, Liu XS.   +8 more
europepmc   +2 more sources

Geographic and age variations in mutational processes in colorectal cancer. [PDF]

Nature
Incidence rates of colorectal cancer vary geographically and have changed over time1. Notably, in the past two decades, the incidence of early-onset colorectal cancer, which affects individuals below 50 years of age, has doubled in many countries2, 3, 4 ...
Díaz-Gay M, Dos Santos W, Moody S, Kazachkova M, Abbasi A, Steele CD, Vangara R, Senkin S, Wang J, Fitzgerald S, Bergstrom EN, Khandekar A, Otlu B, Abedi-Ardekani B, de Carvalho AC, Cattiaux T, Penha RCC, Gaborieau V, Chopard P, Carreira C, Cheema S, Latimer C, Teague JW, Mukeriya A, Zaridze D, Cox R, Albert M, Phouthavongsy L, Gallinger S, Malekzadeh R, Niavarani A, Miladinov M, Erić K, Milosavljevic S, Sangrajrang S, Curado MP, Aguiar S, Reis RM, Reis MT, Romagnolo LG, Guimarães DP, Holcatova I, Kalvach J, Vaccaro CA, Piñero TA, Świątkowska B, Lissowska J, Roszkowska-Purska K, Huertas-Salgado A, Shibata T, Shiba S, Sangkhathat S, Chitapanarux T, Roshandel G, Ashton-Prolla P, Damin DC, de Oliveira FH, Humphreys L, Lawley TD, Perdomo S, Stratton MR, Brennan P, Alexandrov LB.   +62 more
europepmc   +2 more sources

Genetic Determinants of Somatic Selection of Mutational Processes in 3,566 Human Cancers. [PDF]

Cancer Res, 2021
The genetic determinants of the somatic mutational processes in cancer elucidate the biology underlying somatic selection and evolution of cancers and demonstrate complementary predictive power across cancer types.
Guo J, Zhou Y, Xu C, Chen Q, Sztupinszki Z, Börcsök J, Xu C, Ye F, Tang W, Kang J, Yang L, Zhong J, Zhong T, Hu T, Yu R, Szallasi Z, Deng X, Li Q.   +17 more
europepmc   +2 more sources

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. [PDF]

Science
Germline mutations modulate the risk of developing schizophrenia (SCZ). Much less is known about the role of mosaic somatic mutations in the context of SCZ.
Maury EA, Jones A, Seplyarskiy V, Nguyen TTL, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Brain Somatic Mosaicism Network‡, Park PJ, Akbarian S, Brennand K, Reilly S, Lee EA, Sunyaev SR, Walsh CA, Chess A.   +23 more
europepmc   +2 more sources

Low-input PacBio sequencing generates high-quality individual fly genomes and characterizes mutational processes. [PDF]

Nat Commun
Long-read sequencing, exemplified by PacBio, revolutionizes genomics, overcoming challenges like repetitive sequences. However, the high DNA requirement ( > 1 µg) is prohibitive for small organisms.
Jia H, Tan S, Cai Y, Guo Y, Shen J, Zhang Y, Ma H, Zhang Q, Chen J, Qiao G, Ruan J, Zhang YE.   +11 more
europepmc   +2 more sources

Deciphering Signatures of Mutational Processes Operative in Human Cancer

Cell Reports, 2013
The genome of a cancer cell carries somatic mutations that are the cumulative consequences of the DNA damage and repair processes operative during the cellular lineage between the fertilized egg and the cancer cell. Remarkably, these mutational processes
Ludmil B. Alexandrov, Serena Nik-Zainal, David C. Wedge, Peter J. Campbell, Michael R. Stratton   +4 more
doaj   +2 more sources