We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The database describes each p53 mutation (type of the mutation, exon and codon affected by the mutation, nucleotide and amino acid change), each family (family history of cancer, diagnosis of Li-Fraumeni synd...

INTRODUCTION PIONEER (NCT01185314) was a prospective, multinational, epidemiological study of epidermal growth factor receptor (EGFR) mutations in patients from Asia with newly diagnosed advanced lung adenocarcinoma. METHODS Eligible patients (aged ≥20 years) had untreated stage IIIB/IV adenocarcinoma. The EGFR mutation status (primary end point: positive, negative, or undetermined) of tumor ...

The present study evaluated the prognostic value of the epidermal growth factor receptor (EGFR) mutation status, and excision repair cross-complementation group 1 (ERCC1) and thymidylate synthase (TS) expression following intercalated tyrosine kinase inhibitor (TKI) therapy and platinum- and pemetrexed-based chemotherapies (subsequent second-line treatment) for patients with adenocarcinoma non-...

To compare BRAF V600E status of primarymelanoma and brainmetastases to assess for discordance by cross-sectional study, and to evaluate clinical implications on BRAF inhibitor therapy. Brain metastases are common in patients with advanced melanoma. Between 40% and 60% of melanomas demonstrate BRAF mutations, BRAF V600E being most common. Selective BRAF inhibitor therapy has shown improvement in...

Recently, to identify potential somatic mutations in genes of the epidermal growth factor receptor (EGFR) signaling pathway, the MEK1 gene mutation at exon 2 was identified. The mutant form of MEK1 leads to the constitutive activity of extracellular signal-regulated kinase (ERK)-1/2. We investigated MEK1 gene mutation status in 241 surgically treated lung adenocarcinoma cases from Nagoya City U...

In this issue of the Revista Brasileira de Hematologia e Hemoterapia, Holanda et al.1 investigated the hypothesis that polymorphisms of the mannose-binding lectin 2 (MBL2) gene are associated with infections in patients with chronic lymphocytic leukemia (CLL). The authors did not find a correlation between genetic changes and frequency of infection in a cohort of 116 patients. Patients with CLL...

BACKGROUND B-cell chronic lymphocytic leukaemia (B-CLL) is a disease with a highly variable clinical course; some patients never need treatment, while others require intensive treatment early after diagnosis. Recently, some new prognostic factors, such as IgVH mutational status, ZAP-70 and the expression of CD38 in leukaemic cells were introduced to identify attenuated versus progressive types ...

The incidence of lung adenocarcinoma has been increasing recently in smokers. The molecular target therapy has been developed for lung adenocarcinoma patients harboring EGFR gene mutation. However, the treatment modalities for patients without mutation are currently limited. Thus, analysis of EGFR gene mutation status at early stage is important strategy to classify the patients for improving t...

Recurrence and progression to higher grade lesions are characteristic behaviors of gliomas. Though IDH1 mutation frequently occurs and is considered as an early event in gliomagenesis, little is known about its role in the recurrence and progression of gliomas. We therefore analysed IDH1 and IDH2 status at codon 132 of IDH1 and codon 172 of IDH2 by direct sequencing and anti-IDH1-R132H immunohi...