Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

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http://www.wikidata.org/entity/Q43075354
Li-fraumeni syndromeThe CHEK2 gene and inherited breast cancer susceptibilityVariants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibilityGermline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer riskEvaluation of a decision aid for families considering p53 genetic counseling and testing.Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivoThe contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.A robust method for detecting CHK2/RAD53 mutations in genomic DNA.p53 mutations may be involved in malignant transformation of giant cell tumor of bone through interaction with GPX1.Towards Automation for Molecular Diagnosis of Cancer.Additional germline findings from a tumor profiling programClinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours
P2860

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

Item
http://www.wikidata.org/entity/Q43075354
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@en
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@nl
type
label
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@en
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@nl
prefLabel
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@en
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Detection of 11 germline inact ...... or Li-Fraumeni-like syndrome.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932