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DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection

Charlie Bories, Thomas Lejour, Florine Adolphe, Laëtitia Kermasson, Sophie Couvé, Laura Tanguy, Gabriela Luszczewska, Manon Watzky, Victoria Poillerat, Pauline Garnier, Regina Groisman, Sophie Ferlicot, Richard J. Kahnoski, Murat Saparbaev, Patrick Revy, Sophie Gad, Flore Renaud   +16 more
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Distinct Mutational Processes Influence Germline DNA Mutations

Cancer Discovery, 2021
Abstract Nine distinct mutational processes underlie human germline mutations.
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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
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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
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Monoallelic mutation analysis (MAMA) for identifying germline mutations

Nature Genetics, 1995
Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic ...
N, Papadopoulos, F S, Leach, K W, Kinzler, B, Vogelstein   +3 more
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Germline p16 mutations in familial melanoma

Nature Genetics, 1994
The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds.
C J, Hussussian, J P, Struewing, A M, Goldstein, P A, Higgins, D S, Ally, M D, Sheahan, W H, Clark, M A, Tucker, N C, Dracopoli   +8 more
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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.
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