Results 211 to 220 of about 13,351 (224)

Germline mutations in NF1 patients with malignancies

Genes, Chromosomes and Cancer, 1999
We have analyzed 98.5% of the coding region of the NF1 gene at the cDNA level in seven NF1 patients who developed malignant peripheral nerve sheath tumors. Seven germline mutations were detected in six individuals: a 6-bp in-frame deletion in exon 28, a splice acceptor mutation in intron 31 resulting in a premature stop of translation, a missense ...
J L Rutkowski, Catalina Lopez-Correa, Rina Wu, LL Baumbach, Eric Legius, Thomas W. Glover   +5 more
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Myeloid neoplasms with germline DDX41 mutation

International Journal of Hematology, 2017
Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift mutations suggesting loss of function with DDX41 acting as a tumor suppressor, and there is a common ...
Hamish S. Scott, Christopher N. Hahn, Anna L. Brown, Anna L. Brown, Jesse Cheah, Jesse Cheah, Devendra K Hiwase, Devendra K Hiwase, Devendra K Hiwase   +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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Microsatellite mutations in the germline:

Trends in Genetics, 2000
Microsatellite DNA sequences mutate at rates several orders of magnitude higher than that of the bulk of DNA. Such high rates mean that spontaneous mutations that form new-length variants can realistically be seen in pedigree analysis. Data on observed mutation events from various organisms are now accumulating, allowing inferences on DNA sequence ...
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Mutation induction in the mouse and human germline

Russian Journal of Genetics, 2016
The review describes the effects of exposure to mutagens on mutation induction in human and mouse germlines. The results of studies that evaluated inductions of mutations in human families subjected to irradiation are presented and discussed. The effects of exposure to mutagens on mutation induction in the mouse germline are also considered. We analyze
Yu. E. Dubrova, Yu. E. Dubrova
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The impact of germline mutations on targeted therapy

The Journal of Pathology, 2013
AbstractTargeted therapies provide clinical benefit and improved therapeutic index. They have a growing prominence in patient management and focus in drug development. Their development is fuelled by our deepening knowledge of complex disease phenotypes and the need for improvement in new therapeutic efficacy.
Simon Smith, Simon J. Hollingsworth, Tim French   +2 more
openaire   +3 more sources

Glioblastoma: Germline Mutation of TP53

2011
Various brain tumors are components of familial cancer syndromes, and Li-Fraumeni syndrome and Li-Fraumeni-like syndromes are the most famous entities. A rare, sporadic occurrence of brain tumor in peculiarly young subjects, however, sometimes provides a clue to understanding of carcinogenesis due to germline mutations.
Yasuhiro Yamamura, Hiroki Mori, Haruhiko Sugimura, Tomoaki Kahyo, Kiyotaka Kurachi, Masaru Tsuboi, Toshio Nakamura, Kazuya Shinmura, Moriya Iwaizumi, Shinji Kageyama, Hidetaka Yamada, Masato Maekawa, Naoki Yokota   +12 more
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Germline SDHD mutation in familial phaeochromocytoma

The Lancet, 2001
The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD
Farida Latif, Fiona Douglas, Eamonn R. Maher, Dewi Astuti, Charis Eng, D. Gareth Evans, Thomas W. J. Lennard, Emma R. Woodward, Irene A. Aligianis   +8 more
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E-Cadherin Germline Mutations

2013
Hereditary Diffuse Gastric Cancer is the only gastric cancer syndrome with a proven inherited defect. So far, a single gene has been found altered in this context – CDH1 – the E-cadherin encoding gene. Other E-cadherin-associated hereditary or inheritable disorders have been identified, encompassing Hereditary Diffuse Gastric Cancer families with or ...
Hugo Pinheiro, Joana Carvalho, Carla Oliveira, Carla Oliveira   +3 more
openaire   +2 more sources

Distinct Mutational Processes Influence Germline DNA Mutations

Cancer Discovery, 2021
Abstract Nine distinct mutational processes underlie human germline mutations.
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