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Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancerPrevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer
(Universidade Estadual Paulista (Unesp), 2015)
Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation
(SPRINGER, 2010)
von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas ...
Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10
(2011)
Multiple endocrine neoplasia type 2 is
characterized by germline mutations in RET. For exon
10, comprehensive molecular and corresponding phenotypic
data are scarce. The International RET Exon 10
Consortium, comprising ...
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
(ENDOCRINE SOC, 2004)
Primary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome, and the familial isolated hyperparathyroidism ...
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
(BioMed CentralLondon, 2014-04-28)
Background: The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by
a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for ...
Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer
(Universidade Estadual Paulista (UNESP), 2015)
ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients
(Springer, 2015-10-01)
Despite one third of breast (BC) and colorectal cancer (CRC) cases having a hereditary component, only a small proportion can be explained by germline mutations. The aim of this study was to identify potential genomic ...
Occurrence Of Neuroblastoma Among Tp53 P.r337h Carriers
(PUBLIC LIBRARY SCIENCESAN FRANCISCO, 2015)