Results 211 to 220 of about 116,502 (262)

Genotype and clinical phenotype characteristics of <i>MAX</i> germline mutation-associated pheochromocytoma/paraganglioma syndrome. [PDF]

Front Endocrinol (Lausanne)
Lian B, Lu J, Fang X, Zhang Y, Wang W, He Y, Yu H, Li F, Wang J, Chen W, Qi X.   +10 more
europepmc   +1 more source

A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family. [PDF]

Oncologist
Yang X, Shang L, Yang L, Sun L, Tuo X, Ma S, Zhao L, Li X, Yang W.   +8 more
europepmc   +1 more source

Evidence Gaps in Prediction Tools for Follow Up After Localised Melanoma

Australasian Journal of Dermatology, EarlyView.
Deonna M. Ackermann, Xu Huang, Ellie Medcalf, Katy J. L. Bell   +3 more
wiley   +1 more source

The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation. [PDF]

BMC Pediatr
Yue X, Liu B, Han T, Guo D, Ding R, Wang G.   +5 more
europepmc   +1 more source

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Minisatellite instability and germline mutation

Cellular and Molecular Life Sciences (CMLS), 1999
Tandem-repeat DNA actively turns over in the genome by a variety of poorly understood dynamic mechanisms. Minisatellites, a class of tandem repeats, have been shown to cause disease by influencing gene expression, modifying coding sequences within genes or generating fragile sites.
Bois, P, Jeffreys, AJ
openaire   +3 more sources

Germline mutations in lung cancer

Respiratory Investigation, 2019
Genetic testing for alterations in oncogenic driver genes has become essential and standard in the clinical practice of the treatment of lung cancer. Germline mutations potentially predisposing patients to lung cancer are rare; however, with the introduction of next-generation sequencing in the clinical practice of lung cancer, the identification of ...
Takehito, Shukuya, Kazuhisa, Takahashi
openaire   +2 more sources

Distinct Mutational Processes Influence Germline DNA Mutations

Cancer Discovery, 2021
Abstract Nine distinct mutational processes underlie human germline mutations.
openaire   +2 more sources

Germline mutation and genome instability

European Journal of Cancer Prevention, 1999
Colorectal tumorigenesis has been associated with the progressive acquisition of a variety of genomic alterations in neoplastic cells. In 5-10% of cases, a strong family history of cancer suggests a major predisposition, either familial adenomatous polyposis (FAP) or HNPCC syndrome.
openaire   +2 more sources