Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management. (Q36493335)

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28 January 2020

review article

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title

Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management (English)

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28 January 2020

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28 January 2020

R N Moule

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28 January 2020

S G Jhavar

series ordinal

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28 January 2020

language of work or name

English

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publication date

1 January 2006

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28 January 2020

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28 January 2020

volume

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issue

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28 January 2020

page(s)

129-133

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Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome

28 January 2020

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Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome

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Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype

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A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy?

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p53 status and the efficacy of cancer therapy in vivo

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A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family

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T antigen is bound to a host protein in SY40-transformed cells

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Treatment of terminal peritoneal carcinomatosis by a transducible p53-activating peptide

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An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

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Multiple primary cancers in families with Li-Fraumeni syndrome

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Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family

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Dissociation between cell cycle arrest and apoptosis can occur in Li-Fraumeni cells heterozygous for p53 gene mutations.

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Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53

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Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome

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p53-dependent apoptosis modulates the cytotoxicity of anticancer agents

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Aflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome.

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Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome.

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A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

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Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer

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Radiation-induced genetic instability in vivo depends on p53 status

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Analysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations

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A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene

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Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

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Tumors associated with p53 germline mutations: a synopsis of 91 families.

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Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group

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Risk assessment and management of high risk familial breast cancer

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P53 germline mutations in childhood cancers and cancer risk for carrier individuals

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Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group

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Breast-cancer screening with mammography in women aged 40-49 years. Swedish Cancer Society and the Swedish National Board of Health and Welfare

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Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study

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Increasing evidence that germline mutations inCHEK2 do not cause Li-Fraumeni syndrome

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12 December 2020

A cancer family syndrome in twenty-four kindreds

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12 December 2020

10.1007/S10689-005-4522-8

Identifiers

DOI

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28 January 2020

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