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Germline SDHD mutation in familial phaeochromocytoma
Lancet, The, 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
Dewi Astuti +2 more
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Minisatellite instability and germline mutation
Cellular and Molecular Life Sciences (CMLS), 1999Tandem-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, 2019Genetic 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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Distinct Mutational Processes Influence Germline DNA Mutations
Cancer Discovery, 2021Abstract Nine distinct mutational processes underlie human germline mutations.
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Germline mutation and genome instability
European Journal of Cancer Prevention, 1999Colorectal 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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Germline and somatic mutations in meningiomas
Cancer Genetics, 2015Meningiomas arise from the arachnoid layer of the meninges that surround the brain and spine. They account for over one third of all primary central nervous system tumors in adults and confer a significant risk of location-dependent morbidity due to compression or displacement.
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Germline mutations in NF1 patients with malignancies
Genes, Chromosomes and Cancer, 1999We 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 ...
R, Wu +5 more
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Myeloid neoplasms with germline DDX41 mutation
International Journal of Hematology, 2017Recently, 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 ...
Jesse J. C. Cheah +4 more
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Monoallelic mutation analysis (MAMA) for identifying germline mutations
Nature Genetics, 1995Dissection 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 +3 more
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