Single nucleotide polymorphism array analysis can distinguish different genetic mechanisms that lead to loss of heterozygosity (LOH). Single nucleotide.

Slides:



Advertisements
Similar presentations
Genetic Linkage and Recombination
Advertisements

The next generation Chapters 9, 10, 17 in the course textbook, especially pages , ,
Affymetrix CytoScan HD array
Copy Number Variation Eleanor Feingold University of Pittsburgh March 2012.
Ishida et al. Supplementary Figures 1-3 Page 1 Supplementary Fig. 1. Stepwise determination of genomic aberrations on chr-13 in medulloblastomas from Ptch1.
Analyzing DNA using Microarray and Next Generation Sequencing (1) Background SNP Array Basic design Applications: CNV, LOH, GWAS Deep sequencing Alignment.
Have a positive role in cell division Have a negative role in cell division Have a role in the maintenance of DNA integrity Genes altered in cancer typically:
Homozygous deletions within chromosome 9q23.
Case 11: Near-haploid B lymphoblastic leukemia with an apparent hyperdiploid karyotype Rebecca King MD Sarah Choi MD PhD, Peter Papenhausen PhD, and Gerald.
Genotyping module.
Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome  Benjamín Rodríguez-Santiago, Núria Malats, Nathaniel Rothman,
High-Resolution Genomic Profiling of Disseminated Tumor Cells in Prostate Cancer  Yu Wu, Jamie R. Schoenborn, Colm Morrissey, Jing Xia, Sandy Larson, Lisha.
Cancer.
Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia
by Jaroslaw P. Maciejewski, and Ghulam J. Mufti
Phenotype the set of observable characteristics of an individual resulting from their DNA information.
Nat. Rev. Neurol. doi: /nrneurol
Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray.
By Michael Fraczek and Caden Boyer
A20 (TNFAIP3) genetic alterations in EBV-associated AIDS-related lymphoma by Lisa Giulino, Susan Mathew, Gianna Ballon, Amy Chadburn, Sharon Barouk, Giuseppina.
Gene Dysregulations Driven by Somatic Copy Number Aberrations-Biological and Clinical Implications in Colon Tumors  Manny D. Bacolod, Francis Barany 
The BRCA1 suppressor hypothesis: An explanation for the tissue-specific tumor development in BRCA1 patients  Stephen J Elledge, Angelika Amon  Cancer.
Genome-wide Profiling in AML Patients Relapsing after Allogeneic Hematopoietic Cell Transplantation  Miguel Waterhouse, Dietmar Pfeifer, Milena Pantic,
Genomic alterations in breast cancer cell line MDA-MB-231.
Mutational burden of somatic, protein-altering mutations per subject from WES for patients with advanced colon cancer who participated in PD-1 blockade.
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase.
A Tumor Sorting Protocol that Enables Enrichment of Pancreatic Adenocarcinoma Cells and Facilitation of Genetic Analyses  Zachary S. Boyd, Rajiv Raja,
Microarray Techniques to Analyze Copy-Number Alterations in Genomic DNA: Array Comparative Genomic Hybridization and Single-Nucleotide Polymorphism Array 
A, relationship between weighted mean chromosome copy number and weighted Genome Instability Index (wGII). A, relationship between weighted mean chromosome.
 Design and use of a high-throughput screen to identify tumor cell-induced gene activation events in Salmonella.  Design and use of a high-throughput screen.
Volume 69, Issue 5, Pages (May 2016)
Criteria for Inference of Chromothripsis in Cancer Genomes
A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene  Alexandra M. Dumitrescu,
SNPitty The Journal of Molecular Diagnostics
Types of Chromosome Mutations
Eung Bae Lee, MD, Tae I. n Park, MD, PhD, Sun H
High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.
SNP Arrays in Heterogeneous Tissue: Highly Accurate Collection of Both Germline and Somatic Genetic Information from Unpaired Single Tumor Samples  Guillaume.
Volume 1, Issue 3, Pages (September 2007)
Histology and genomic copy number alterations in TRAMP tumors.
Distribution of informative SNPs with LOH (black bars) on each chromosome (rows, oriented p-arm at the bottom and q-arm at the top of each chromosome)
Genetic and Functional Diversity of Propagating Cells in Glioblastoma
Localization of Multiple Melanoma Tumor–Suppressor Genes on Chromosome 11 by Use of Homozygosity Mapping-of-Deletions Analysis  Eleonora K. Goldberg,
Understanding Human Cancer in a Fly?
Katy Hanlon, Lorna W. Harries, Sian Ellard, Claudius E. Rudin 
Gene Dysregulations Driven by Somatic Copy Number Aberrations-Biological and Clinical Implications in Colon Tumors  Manny D. Bacolod, Francis Barany 
sac mutants are hypersensitive to IR
Heat map of additive effects for PCs QTL
Types of Chromosome Mutations
by Meru J. Sadhu, Joshua S. Bloom, Laura Day, and Leonid Kruglyak
The principles of genetic association
Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers  Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,
Cancer as a Complex Genetic Trait
Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus  David W. Craig, Abraham Itty, Corrie Panganiban,
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
Friday, oct 13th Get your binder You need:
Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup 
Fig. 5 Nucleotide variation in wild-caught, South Carolina colony and inbred strains of P. leucopus. Nucleotide variation in wild-caught, South Carolina.
Regional plot and genome browser view of 14q13.
Kaplan-Meier survival analysis of p53 mutation in the overall breast tumor series. Kaplan-Meier survival analysis of p53 mutation in the overall breast.
MPM cases with GNH. A, WES-based LOH profiling with the FACETS algorithm revealed three MPM samples with genome-wide LOH. B, Allelic copy-number plots.
Cell lines with aberrant expression of NRG1 are exquisitely sensitive to downregulation of ERBB3 signaling. Cell lines with aberrant expression of NRG1.
Representative images demonstrating LOH in breast cancer patients’ paired BM aspirate and primary tumors (T) at D14S62, D14S51, and D8S321, respectively.
Concordance between the genomic landscape identified by whole-exome sequencing of plasma cfDNA and tumor; DNA and recurrence of KDR/VEGFR2 oncogenic mutations.
Germline variants influencing primary tumor type.
A, heatmap of copy number alterations determined by array CGH for a panel of 79 frozen NSCLC samples. A, heatmap of copy number alterations determined.
Gene expression heatmap of non–T-cell-inflamed, intermediate, and T-cell–inflamed testicular germ cell tumors from TCGA. Genes are on the row, and samples.
The ovarian cancer cell lines modestly recapitulate the spectrum of mutations found in primary ovarian tumors. The ovarian cancer cell lines modestly recapitulate.
Driver pathways and key genes in OSCC
Genomic and proteomic profiling of ovarian cancer cell lines.
Presentation transcript:

Single nucleotide polymorphism array analysis can distinguish different genetic mechanisms that lead to loss of heterozygosity (LOH). Single nucleotide polymorphism array analysis can distinguish different genetic mechanisms that lead to loss of heterozygosity (LOH). A, different chromosomal mechanisms can cause LOH. In this cartoon, a mutated tumor suppressor gene indicated by a red star become homozygous because the remaining wild-type allele is lost by a copy-neutral event such as recombination or gene conversion (top right) or by hemizygous deletion (bottom right). B and C, LOH analysis (top left), copy number analysis (bottom left), and copy number quantitation of chromosome 13 in cell lines HCC1599 and HCC2218. In the LOH panel, yellow denotes heterozygosity (AB), whereas red (AA) and blue (BB) denote homozygosity. Note that LOH regions show heterozygous SNP markers in the normal that are reduced to homozygosity in the cell line. D and E, LOH within chromosome 9 associated with copy number loss and an interstitial homozygous deletion in NCI-H1648, contrasted with LOH and copy number maintenance in HCC1187. Xiaojun Zhao et al. Cancer Res 2004;64:3060-3071 ©2004 by American Association for Cancer Research