Results 261 to 270 of about 90,557 (301)

Screening for germ‐line mutations in the NF2 Gene

Genes, Chromosomes and Cancer, 1995
AbstractNeurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease that predisposes to the development of tumors of the nervous system, particularly meningiomas and schwannomas. The gene which, when altered, causes NF2, is localized on chromosome 22 and has recently been identified.
Philippe Mérel, Khé Hoang‐Xuan, Marc Sanson, Emilia Bijlsma, Guy Rouleau, Pierre Laurent‐Puig, Stephan Pulst, Michael Baser, Gilbert Lenoir, Jean Marc Sterkers, Jacques Philippon, François Resche, Victor F. Mautner, Georges Fischer, Theo Hulsebos, Alain Aurias, Olivier Delattre, Gilles Thomas   +17 more
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Germ-line mutation of Foxn5 gene in mouse lineage

International Journal of Molecular Medicine, 2004
Amplified region (amplicon) around MLL gene is closely linked to the 11q23.3 commonly deleted region of neuroblastoma, which includes cancer-associated genes such as PHLDB1 (LL5A), BCL9L, FOXN5 (FOXR1), CBL, MFRP, and PVRL1 (Nectin) genes. FOXN6 (FOXR2) gene at human chromosome Xp11.21 is generated due to retrotransposition of ancestral Foxn5 gene ...
Masuko, Katoh, Masaru, Katoh
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Familial Gastrointestinal Stromal Tumors and Germ-Line Mutations

New England Journal of Medicine, 2007
To the Editor: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the conte...
Sarah R, McWhinney, Barbara, Pasini, Constantine A, Stratakis   +2 more
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Incidence of germ‐line p53 mutations in patients with gliomas

International Journal of Cancer, 1995
AbstractEpidemiological studies on intracranial tumors have suggested that the observed familial aggregation of a proportion of gliomas may be due to inherited predisposition to their development. In the Li‐Fraumeni syndrome (LFS) associated with germ‐line mutations of the p53 gene, nervous‐system tumors are observed with increased frequency.
Y J, Li, M, Sanson, K, Hoang-Xuan, J Y, Delattre, M, Poisson, G, Thomas, R, Hamelin   +6 more
openaire   +2 more sources

The spectrum of Lynch syndrome-associated germ-line mutations in Russia

European Journal of Medical Genetics, 2020
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome (LS), is a common cancer-predisposing syndrome. This study aimed to investigate the spectrum of germ-line mutations in Russian LS patients. LS-related mismatch repair (MMR) genes were analyzed in 16 patients, who were forwarded to genetic testing due to strong clinical ...
Grigoriy A, Yanus, Tatiana A, Akhapkina, Aglaya G, Iyevleva, Alexandr V, Kornilov, Evgeny N, Suspitsin, Ekaterina Sh, Kuligina, Alexandr O, Ivantsov, Svetlana N, Aleksakhina, Tatiana N, Sokolova, Anna P, Sokolenko, Alexandr V, Togo, Evgeny N, Imyanitov   +11 more
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Germ line and somatic mutations of BRAF V599E in ovarian carcinoma

International Journal of Gynecological Cancer, 2007
It has been shown that ovarian low-grade serous carcinoma evolves out of a stepwise progression from benign serous cystadenoma to serous borderline tumor (SBT) to micropapillary serous carcinoma (MPSC), and that BRAF activation is a very early somatic event in the tumorigenesis.
M, Ueda, E, Toji, S, Noda
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Characterization of a germ-line proliferation mutation in C. elegans

Development, 1992
ABSTRACT The C. elegans germ line is generated by extensive proliferation of the two germ-line progenitor cells present in newly hatched larvae. We describe genetic and phenotypic characterization of glp-4, a locus whose product is required for normal proliferation of the germ line.
M J, Beanan, S, Strome
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Parental origin of germ-line and somatic mutations in the retinoblastoma gene

Human Genetics, 1994
Segregation analysis of polymorphic sites within the retinoblastoma (RB) gene and on chromosome 13, as well as the parental origin of the lost allele in the tumor, were analyzed in 24 families with RB patients. Four mutant alleles transmitted through the germ-line and seven de novo germ-line mutant alleles were identified in 11 patients with hereditary
Mitsuo V. Kato, Kanji Ishizaki, Takashi Shimizu, Yosuke Ejima, Hiroshi Tanooka, Jun Takayama, Akihiro Kaneko, Junya Toguchida, Masao S. Sasaki, M. V. Kato   +9 more
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Novel SDHD germ‐line mutations in pheochromocytoma patients

European Journal of Clinical Investigation, 2007
AbstractBackground  SDHD germ‐line mutations predispose to pheochromocytoma (PCC) and paraganglioma (PGL).Material and methods  The incidence and types of SDHD germ‐line mutations are determined in 70 patients with apparently sporadic adrenal and extra‐adrenal PCC.Results  SDHD sequence variants were identified in the germ line of five patients.
C, Neumayer, A, Moritz, R, Asari, A, Weinhäusel, T, Hölzenbein, G, Kretschmer, B, Niederle, O A, Haas   +7 more
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Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome

Science, 1999
The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G 2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome,
Bell, Daphne W., Varley, Jennifer M., Szydlo, Tara E., Kang, Deborah H., Wahrer, Doke C R, Shannon, Kristen E., Lubratovich, Marcie, Verselis, Sigitas J., Isselbacher, Kurt J., Fraumeni, Joseph F., Birch, Julian M., Li, Frederick P., Garber, Judy E., Haber, Daniel A.   +13 more
openaire   +3 more sources