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991.
Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole‐exome sequencing of a multiplex family and follow‐up study in a Japanese population
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992.
Gabriele Zoppoli David Brown Serena Nik‐Zainal Gunes Gundem Françoise Rothé Samira Majjaj Anna Garuti Enrico Carminati Sherene Loi Thomas Van Brussel Bram Boeckx Marion Maetens Laura Mudie Delphine Vincent Naima Kheddoumi Luigi Serra Ilaria Massa Alberto Ballestrero Dino Amadori Roberto Salgado Alexandre de Wind Diether Lambrechts Martine Piccart Denis Larsimont Christos Sotiriou 《The Journal of pathology》2015,236(4):457-466
Multifocal breast cancer (MFBC), defined as multiple synchronous unilateral lesions of invasive breast cancer, is relatively frequent and has been associated with more aggressive features than unifocal cancer. Here, we aimed to investigate the genomic heterogeneity between MFBC lesions sharing similar histopathological parameters. Characterization of different lesions from 36 patients with ductal MFBC involved the identification of non‐silent coding mutations in 360 protein‐coding genes (171 tumour and 36 matched normal samples). We selected only patients with lesions presenting the same grade, ER, and HER2 status. Mutations were classified as ‘oncogenic’ in the case of recurrent substitutions reported in COSMIC or truncating mutations affecting tumour suppressor genes. All mutations identified in a given patient were further interrogated in all samples from that patient through deep resequencing using an orthogonal platform. Whole‐genome rearrangement screen was further conducted in 8/36 patients. Twenty‐four patients (67%) had substitutions/indels shared by all their lesions, of which 11 carried the same mutations in all lesions, and 13 had lesions with both common and private mutations. Three‐quarters of those 24 patients shared oncogenic variants. The remaining 12 patients (33%) did not share any substitution/indels, with inter‐lesion heterogeneity observed for oncogenic mutation(s) in genes such as PIK3CA, TP53, GATA3, and PTEN. Genomically heterogeneous lesions tended to be further apart in the mammary gland than homogeneous lesions. Genome‐wide analyses of a limited number of patients identified a common somatic background in all studied MFBCs, including those with no mutation in common between the lesions. To conclude, as the number of molecular targeted therapies increases and trials driven by genomic screening are ongoing, our findings highlight the presence of genomic inter‐lesion heterogeneity in one‐third, despite similar pathological features. This implies that deeper molecular characterization of all MFBC lesions is warranted for the adequate management of those cancers. © 2015 The Authors. Pathological Society of Great Britain and Ireland. 相似文献
993.
Whole‐exome DNA sequence analysis of Brca2‐ and Trp53‐deficient mouse mammary gland tumours
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Jeffrey C Francis James Campbell Wenbin Wei Javier Armisen‐Garrido Ioannis Assiotis Lina Chen Iwanka Kozarewa Kerry Fenwick Amanda Swain Christopher J Lord Alan Ashworth 《The Journal of pathology》2015,236(2):186-200
Germline mutations in the tumour suppressor BRCA2 predispose to breast, ovarian and a number of other human cancers. Brca2‐deficient mouse models are used for preclinical studies but the pattern of genomic alterations in these tumours has not yet been described in detail. We have performed whole‐exome DNA sequencing analysis of mouse mammary tumours from Blg–Cre Brca2f/f Trp53f/f animals, a model of BRCA2‐deficient human cancer. We also used the sequencing data to estimate DNA copy number alterations in these tumours and identified a recurrent copy number gain in Met, which has been found amplified in other mouse mammary cancer models. Through a comparative genomic analysis, we identified several mouse Blg–Cre Brca2f/f Trp53f/f mammary tumour somatic mutations in genes that are also mutated in human cancer, but few of these genes have been found frequently mutated in human breast cancer. A more detailed analysis of these somatic mutations revealed a set of genes that are mutated in human BRCA2 mutant breast and ovarian tumours and that are also mutated in mouse Brca2‐null, Trp53‐null mammary tumours. Finally, a DNA deletion surrounded by microhomology signature found in human BRCA1/2‐deficient cancers was not common in the genome of these mouse tumours. Although a useful model, there are some differences in the genomic landscape of tumours arising in Blg–Cre Brca2f/f Trp53f/f mice compared to human BRCA‐mutated breast cancers. Therefore, this needs to be taken into account in the use of this model. Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. 相似文献
994.
Luciano G Martelotto Maria R De Filippo Charlotte KY Ng Rachael Natrajan Laetitia Fuhrmann Joanna Cyrta Salvatore Piscuoglio Huei‐Chi Wen Raymond S Lim Ronglai Shen Anne M Schultheis Y Hannah Wen Marcia Edelweiss Odette Mariani Göran Stenman Timothy A Chan Pierre‐Emmanuel Colombo Larry Norton Britta Weigelt 《The Journal of pathology》2015,237(2):179-189
995.
996.
997.
《Human immunology》2015,76(12):923-927
This communication describes our experience in large-scale G group-level high resolution HLA typing using three different DNA sequencing platforms – ABI 3730 xl, Illumina MiSeq and PacBio RS II. Recent advances in DNA sequencing technologies, so-called next generation sequencing (NGS), have brought breakthroughs in deciphering the genetic information in all living species at a large scale and at an affordable level. The NGS DNA indexing system allows sequencing multiple genes for large number of individuals in a single run. Our laboratory has adopted and used these technologies for HLA molecular testing services. We found that each sequencing technology has its own strengths and weaknesses, and their sequencing performances complement each other. HLA genes are highly complex and genotyping them is quite challenging. Using these three sequencing platforms, we were able to meet all requirements for G group-level high resolution and high volume HLA typing. 相似文献
998.
999.
《Indian journal of medical microbiology》2015,33(1):172-175
Shewanella algae is an emerging bacteria rarely implicated as a human pathogen. Previously reported cases of S. algae have mainly been associated with direct contact with seawater. Here we report the isolation of S. algae as the sole etiological agent from a patient suffering from acute gastroenteritis with bloody diarrhoea. The bacterium was identified by automated identification system and 16S rRNA gene sequence analysis. Our report highlights the importance of looking for the relatively rare aetiological agents in clinical samples that does not yield common pathogens. It also underscores the usefulness of automated systems in identification of rare pathogens. 相似文献
1000.
Zonggang Luo Yingkai Liu Lei Chen Michael Ellis Mingzhou Li Jinyong Wang Yi Zhang Penghui Fu Ketian Wang Xuewei Li Ling Wang 《Journal of assisted reproduction and genetics》2015,32(3):451-460
BackgroundSpermatogenesis is an intricate biological event wherein an
undifferentiated spermatogonium develops into mature sperms. MicroRNAs are a
type of single strand small non-coding RNA molecule and are implicated in the
regulation of many crucial pathways during cell proliferation, apoptosis, and
differentiation.MethodHere, we present a comprehensive comparison of miRNA expression profiling in
three main stages during porcine spermatogenesis using high-throughput
sequencing.ResultsWe built three small RNA libraries for the testis, the epididymis and the
ejaculated sperm from a Landrace boar, and in total obtained 3821 precursor
hairpins encoding for 4761 mature miRNAs, of which 23 are miRNA*. Notably, 940
precursor miRNAs produced both the 5’- and 3’- strands as sister pairs,
indicating the distinctive expression patterns of germ cell miRNAs.
Additionally, 418 out of 710 co-expressed miRNAs were identified as being
differentially expressed between libraries (P < 0.001). Apart from the sexual specific X chromosome, many
miRNAs were found to be located on chromosome 12, which may play potential roles
in spermatogenesis according to the result of synteny analysis with human and
mouse. The Gene Ontology and KEGG pathway analysis revealed that the target
genes of co-expressed miRNAs were highly involved in the cell cycle process,
metal ion binding, modification of plasma membrane, and the p53 signal
pathway.