La diagnostica molecolare nelle neoplasie colo-rettali. A do Scarpa. U iversita di Vero a

Size: px
Start display at page:

Download "La diagnostica molecolare nelle neoplasie colo-rettali. A do Scarpa. U iversita di Vero a"

Transcription

1 La diagnostica molecolare nelle neoplasie colo-rettali C-NET A do Scarpa e Dipartime to Pato ogia e U iversita di Vero a

2 La stessa malattia puo avere diverse patogenesi cucchiaio moneta forchetta

3 Gastrointestinal Carcinomas APC, Ki-ras 5q LOH CIN p53, DCC 17p LOH, 18q LOH Normal Adenoma Carcinoma Mutator genes MHL1 MSH2 MSH6 MIN TGF b R, BAX IGFR hmhl6 Caspases

4 Gastrointestinal Carcinomas APC, Ki-ras 5q LOH CIN p53, DCC 17p LOH, 18q LOH FAP Normal Adenoma Carcinoma Mutator genes MHL1 MSH2 MSH6 MIN TGF b R, BAX IGFR hmhl6 Caspases HNPCC (Lynch)

5 Poliposi adenomatosa familiare Il gene APC è un oncosoppressore la cui inattivazione Germinale e causa della FAP (>800 mutazioni descritte) Somatica e causa del 75% dei carcinomi sporadici del coloretto DNA = 100 Kb, 15 esoni, RNA = 8538 bp

6 HNPCC Geni del mismatch repair MLH1 Riparazione DNA

7 FAP classiche o attenuate Il gene MUTYH è un oncosoppressore la cui inattivazione causa il 10% delle FAP classiche 15% di FAP Attenuate Riparazione DNA BER (Base Excision Repair) (muty, mutm, mutt)

8 Sporadic disease

9 Next generation clinical approach

10 MSI status is prognostic OR 2.1 (P=0.003) MSI + MSI -

11 Percorso oncologico Pre- Era Molecolare Paziente Chirurgo Patologo Caso chiuso con una sentenza-diagnosi Oncologo

12 Percorso oncologico - Era Molecolare Paziente Chirurgo Patologo Il caso non si chiude mai finché il paziente é vivo Oncologo

13

14 Classification of Cancers

15 Cancer Phenotypes

16 Diversi tipi istologici di tumore possono avere mutazione dello stesso gene Kan ZY et al, Nature 2010

17 Molecular Taxonomy Cancer Biotypes

18 Two Ingredients The Sample The Analytical Technique

19 Two Ingredients The Sample The Analytical Technique

20 Cancer is a tissue stroma cancer

21 Cancer is a tissue The cancer cell: has anatomical lesions in DNA The microenvironment (stroma): - stromal cells (stellate, myofibroblasts, fibroblasts) - fibers and molecules of the stroma - vessels - immune cells

22 INTRATUMOR HETEROGENEITY

23 INTRATUMOR HETEROGENEITY

24 Intra-tumor heterogeneity Carcinoma of the colon

25 Intra-tumor heterogeneity Adenocarcinomatosus component with KRAS wild type Signet ring cell component with KRAS mutation

26 Metastasis Heterogeneity?

27 Metastasis Heterogeneity?

28 Lesson from massive-scale sequencing Genetic evolution of pancreatic cancer by comparative lesion sequencing metastasis heterogeneity Progressor Mutation Founder Mutation S Yachida et al. Nature 467, (2010)

29 Lesson from massive-scale sequencing Proposed clonal evolution based on sequencing data PRIMARY Ongoing clonal evolution within primary carcinoma METASTASIS S Yachida et al. Nature 467, (2010)

30 Lesson from massive-scale sequencing Geographic mapping of metastatic clones within the primary carcinoma subclones that give lung and liver metastasis subclones that give perintoneal metastasis S Yachida et al. Nature 467, (2010)

31 Metastasis Heterogeneity

32 Clinical Applications

33 Genetic profiling using Personal Genome Sequencing Solid Pseudopapillary Tumor 80% cancer cells 160 PCR in one tube 46 genes, 739 mutations KRAS BRAF EGFR TP53 PIK3CA CSF1R JAK2 NRAS PTPN11 ERBB2 SRC FGFR3 NPM1 CDKN2A RET HNF1A SMAD4 GNAS PDGFRA MPL ABL1 PTEN FLT3 STK11 SMARCB1 KIT MET NOTCH1 FGFR2 RB1 JAK3 VHL KDR SMO HRAS AKT1 ALK MLH1 FBXW7 ERBB4 Ion Torrent ATM CDH1 IDH1 CTNNB1 APC FGFR1 Ampli-seq Cancer Panel

34 Frequency Forward and reverse reads are balanced Mean Forward/reverse amplicon ratio = 0.5; Standard deviation range = FROZEN TISSUES SPT 21 SPT 23 SPT 27 SPT 29 SPT 30 PARAFFIN EMBEDDED SPT 21 SPT 23 SPT 27 SPT 29 SPT 30 Forward/reverse amplicon ratio (Optimal = 0.5 )

35 Coverage is variable but high for 150 amplicons 200, ,000 reads

36 Coverage is variable but high for 150 amplicons 200, ,000 reads F P F P F P F P F P

37 SNPs with frequency >5% and coverage > 200 are consistent between frozen and FFPE samples Frequencies of point mutations are highly consistent Frequencies of indels are consistent

38 Variant Frequency Sequence variants in two cancer samples CTNNB1 FGFR3 APC PIK3CA SPT27 SPT30

39 Variant Frequency Sequence variants in two cancer samples Mutation ß Catenin Allelic silent SNP Allelic silent SNP Mutation CTNNB1 FGFR3 APC PIK3CA SPT27 SPT30 Cancer cells are 80% of the total cells Each cell has two alleles ß Catenin mutation is heterozygous (only one allele) We should find 40% of alleles mutated

40 Variant Frequency Sequence variants in two cancer samples Mutation Allelic silent SNP Allelic silent SNP Mutation CTNNB1 FGFR3 APC PIK3CA SPT30 PIK3CA variant occurs in 20% of alleles

41 Clonal heterogeneity

42 Clonal heterogeneity

43 Clonal heterogeneity Normal CTNNB1 CTNNB1 + PIK3CA

44 Clonal heterogeneity 20% 40% 40% Normal CTNNB1 CTNNB1 + PIK3CA

45 Clonal heterogeneity Therapy YES? Normal EGFR positive EGFR negative

46 Clonal heterogeneity Therapy YES which drug anti-red? Normal EGFR positive EGFR negative

47 Clonal heterogeneity Therapy YES which drug anti-red? YES anti-grey first line Normal EGFR positive EGFR negative

48 Clonal heterogeneity Therapy YES which drug anti-red? YES anti-grey first line anti-red second line Normal EGFR positive EGFR negative

49 Future Diagnostic Report

Nuovi Scenari in Oncologia. G. Zoppoli X-Files in Nutrizione Clinica e Artificiale, 08/06/2012

Nuovi Scenari in Oncologia. G. Zoppoli X-Files in Nutrizione Clinica e Artificiale, 08/06/2012 Nuovi Scenari in Oncologia G. Zoppoli X-Files in Nutrizione Clinica e Artificiale, 08/06/2012 WHAT is cancer? «Cancer is a genetic disease of the somatic cell» [B. Vogelstein] Ten years ago Now [Cell.

More information

Launching a Cancer Genetic Laboratory to Enhance Diagnosis and Treatment

Launching a Cancer Genetic Laboratory to Enhance Diagnosis and Treatment Launching a Cancer Genetic Laboratory to Enhance Diagnosis and Treatment Arthur L. Beaudet, M.D. Department of Molecular and Human Genetics Baylor College of Medicine ORIGIN AND PRECEDENT Decades of experience

More information

TEST AND PRICE LIST FOR NEXT GENERATION SEQUENCING

TEST AND PRICE LIST FOR NEXT GENERATION SEQUENCING AIP ALK APC Mutation Detection Techniques Ai Saple Type TAT ATM BAP1 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CDK4 CDKN1C CDKN2A CEBPA CEP57 CHEK2 CYLD DDB2 DICER1 DIS3L2 EGFR EPCAM ERCC2 ERCC3 ERCC4

More information

CancerTREATMENT NGS+ NSCLC Summary Report Page 1 of 7 PATIENT SPECIMEN PHYSICIAN

CancerTREATMENT NGS+ NSCLC Summary Report Page 1 of 7 PATIENT SPECIMEN PHYSICIAN Page 1 of 7 POSITIVE TEST RESULTS Biomarker Result DETECTED NEGATIVE TEST RESULTS FDA Approved Therapies Targeting Molecular Pathway TEST DESCRIPTION: CancerTREATMENT NGS+ uses Next Generation Sequencing

More information

Médecine de précision médecine personnalisée en Oncologie. Fabien Calvo, Directeur Recherche et Innovation, INCa, Directeur ITMO Cancer, AVIESAN

Médecine de précision médecine personnalisée en Oncologie. Fabien Calvo, Directeur Recherche et Innovation, INCa, Directeur ITMO Cancer, AVIESAN Médecine de précision médecine personnalisée en Oncologie Fabien Calvo, Directeur Recherche et Innovation, INCa, Directeur ITMO Cancer, AVIESAN Successful targeted drug development Rapid identification

More information

Ion AmpliSeq Technology

Ion AmpliSeq Technology Ion AmpliSeq Technology Dr. Franziska Freund Sr. Sequencing Sales Specialist 26.06.2015 1 The world leader in serving science Ion AmpliSeq Technology: As Simple As PCR Your targets, your genome, your panel

More information

Microsatellite Instability (MSI) A New Paradigm in Cancer Treatment. Lynch Syndrome OUTLINE. GI Molecular Pathology

Microsatellite Instability (MSI) A New Paradigm in Cancer Treatment. Lynch Syndrome OUTLINE. GI Molecular Pathology OUTLINE GI Molecular Pathology Microsatellite Instability and Lynch Syndrome GI Cancer Genotyping KRAS Mutations in Colorectal Cancer A. John Iafrate MD-PhD Department of Pathology Massachusetts General

More information

Opportunities and Challenges in Translating Novel Discoveries into Useful Clinical Tests

Opportunities and Challenges in Translating Novel Discoveries into Useful Clinical Tests Opportunities and Challenges in Translating Novel Discoveries into Useful Clinical Tests James H. Doroshow, M.D. NCI Deputy Director for Clinical and Translational Research NCI Workshop: Evidence Needed

More information

PATOLOGIA MOLECULAR DEL CANCER GINECOLOGICO. Xavier Matias-Guiu Hospital Universitari Arnau de Vilanova, Universitat de Lleida, IRBLLEIDA.

PATOLOGIA MOLECULAR DEL CANCER GINECOLOGICO. Xavier Matias-Guiu Hospital Universitari Arnau de Vilanova, Universitat de Lleida, IRBLLEIDA. PATOLOGIA MOLECULAR DEL CANCER GINECOLOGICO Xavier Matias-Guiu Hospital Universitari Arnau de Vilanova, Universitat de Lleida, IRBLLEIDA. Carcinoma de Endometrio Cáncer de Ovario Endometrial carcinoma

More information

Applications of comprehensive clinical genomic analysis in solid tumors: obstacles and opportunities

Applications of comprehensive clinical genomic analysis in solid tumors: obstacles and opportunities Applications of comprehensive clinical genomic analysis in solid tumors: obstacles and opportunities Vincent A. Miller, M.D. Foundation Medicine, Inc. AACR Annual Meeting 2012 Current Concepts session

More information

Genomic Analysis of Mature B-cell Malignancies

Genomic Analysis of Mature B-cell Malignancies Genomic Analysis of Mature B-cell Malignancies Update and Lessons Learned Omar Abdel-Wahab, MD Memorial Sloan Kettering Cancer Center Human Oncology and Pathogenesis Program and Leukemia Service Disclaimer:

More information

Data Analysis for Ion Torrent Sequencing

Data Analysis for Ion Torrent Sequencing IFU022 v140202 Research Use Only Instructions For Use Part III Data Analysis for Ion Torrent Sequencing MANUFACTURER: Multiplicom N.V. Galileilaan 18 2845 Niel Belgium Revision date: August 21, 2014 Page

More information

1. Le mutazioni di KRAS hanno tutte lo stesso significato clinico?

1. Le mutazioni di KRAS hanno tutte lo stesso significato clinico? EGFR downstream pathways KRAS domande frequenti ed importanti. Luca Mazzucchelli Istituto cantonale di patologia Locarno )'"* )-# %& # +%,!"# '( "#$ Anti-EGFR monoclonal antibodies (MoAbs) Cetuximab and

More information

Common Cancers & Hereditary Syndromes

Common Cancers & Hereditary Syndromes Common Cancers & Hereditary Syndromes Elizabeth Hoodfar, MS, LCGC Regional Cancer Genetics Coordinator Kaiser Permanente Northern California Detect clinical characteristics of hereditary cancer syndromes.

More information

Public-Private Partnerships in early phase clinical research: Spurring access to innovative therapeutics

Public-Private Partnerships in early phase clinical research: Spurring access to innovative therapeutics EPAAC WP8 Research Forum - 2 July, Sofitel Hotel Europe, Brussels Public-Private Partnerships in early phase clinical research: Spurring access to innovative therapeutics JY Blay, Past President EORTC

More information

High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma The Harvard community has made this article openly available. Please share how this access benefits

More information

Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System

Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System White Paper Oncology Insights Enabled by Knowledge Base-Guided Panel Design and the Seamless Workflow of the GeneReader NGS System Abstract: This paper describes QIAGEN s philosophy and process for developing

More information

patient guide CancerNext TM - A Genetic Test for Hereditary Cancer

patient guide CancerNext TM - A Genetic Test for Hereditary Cancer patient guide CancerNext TM - A Genetic Test for Hereditary Cancer What is hereditary cancer? Cancer affects many people in the U.S. more than 1.6 million people are estimated to be diagnosed with cancer

More information

Genomic Medicine The Future of Cancer Care. Shayma Master Kazmi, M.D. Medical Oncology/Hematology Cancer Treatment Centers of America

Genomic Medicine The Future of Cancer Care. Shayma Master Kazmi, M.D. Medical Oncology/Hematology Cancer Treatment Centers of America Genomic Medicine The Future of Cancer Care Shayma Master Kazmi, M.D. Medical Oncology/Hematology Cancer Treatment Centers of America Personalized Medicine Personalized health care is a broad term for interventions

More information

Nuevas tecnologías basadas en biomarcadores para oncología

Nuevas tecnologías basadas en biomarcadores para oncología Nuevas tecnologías basadas en biomarcadores para oncología Simposio ASEBIO 14 de marzo 2013, PCB Jose Jimeno, MD, PhD Co-Founder / Vice Chairman Pangaea Biotech SL Barcelona, Spain PANGAEA BIOTECH BUSINESS

More information

Test Information Sheet

Test Information Sheet Test Information Sheet GeneDx 207 Perry Parkway Gaithersburg, MD 20877 Phone: 888-729-1206 Fax: 301-710-6594 E-mail: wecare@genedx.com www.genedx.com/oncology OncoGene Dx: High/Moderate Risk Panel Sequence

More information

Molecular Diagnosis of Gastrointestinal Tumors

Molecular Diagnosis of Gastrointestinal Tumors Molecular Diagnosis of Gastrointestinal Tumors Zoltan Szentirmay National Institute of Oncology Center of Surgical and Molecular Tumor Pathology EEA and Norwegian Financial Mechanisms in Hungary, Development

More information

Breast and Lung Cancer Biomarker Research at ASCO: Changing Treatment Patterns

Breast and Lung Cancer Biomarker Research at ASCO: Changing Treatment Patterns July 2013 Edition Vol. 7, Issue 7 Breast and Lung Cancer Biomarker Research at ASCO: Changing Treatment Patterns By Julie Katz, MPH, MPhil Biomarkers played a prominent role in the research presented in

More information

Target enrichment using selector probes. Department of Genetics and Pathology, Uppsala University

Target enrichment using selector probes. Department of Genetics and Pathology, Uppsala University Target enrichment using selector probes Mats Nilsson Department of Genetics and Pathology, Uppsala University Target enrichment using selector probes Even with radically improved sequencing throughput,

More information

Genomic Medicine Education Initiatives of the College of American Pathologists

Genomic Medicine Education Initiatives of the College of American Pathologists Genomic Medicine Education Initiatives of the College of American Pathologists Debra G.B. Leonard, MD, PhD, FCAP Chair, Personalized Healthcare Committee, CAP Professor of Pathology, Weill Cornell Medical

More information

WHITE PAPER SEPT 2015

WHITE PAPER SEPT 2015 WHITE PAPER SEPT 2015 LIQUID BIOPSY FOR THE DETECTION AND MONITORING OF CANCER: ANALYSIS OF 96 HOTSPOT MUTATIONS VIA PLASMA DERIVED CIRCULATING TUMOR DNA PATHWAY GENOMICS CANCER AND SOMATIC MUTATIONS The

More information

A Patient s Guide to Hereditary Cancer. Is Hereditary Cancer Testing Right for You?

A Patient s Guide to Hereditary Cancer. Is Hereditary Cancer Testing Right for You? A Patient s Guide to Hereditary Cancer Is Hereditary Cancer Testing Right for You? What is Hereditary Cancer? Most cancers occur in people who do not have a strong family history of that cancer. This is

More information

Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research. March 17, 2011 Rendez-Vous Séquençage

Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research. March 17, 2011 Rendez-Vous Séquençage Advances in RainDance Sequence Enrichment Technology and Applications in Cancer Research March 17, 2011 Rendez-Vous Séquençage Presentation Overview Core Technology Review Sequence Enrichment Application

More information

Gebruik van predictieve markers voor targeted therapy in de algemene praktijk

Gebruik van predictieve markers voor targeted therapy in de algemene praktijk Gebruik van predictieve markers voor targeted therapy in de algemene praktijk Gerrit A. Meijer, MD, PhD Professor of Pathology Chair of the Department of Pathology VU Universtiy Medical Center Amsterdam

More information

targeted therapy a guide for the patient

targeted therapy a guide for the patient targeted therapy FOR LUNG CANCER a guide for the patient TABLE OF CONTENTS lung cancer basics... 2-3 Gene changes... 4-5 Testing... 7-8 Targeted therapy... 9-11 Drugs Targeting EGFR... 12 Drugs Targeting

More information

What is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function:

What is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function: Cancer is a genetic disease: Inherited cancer Sporadic cancer What is Cancer? Cancer typically involves a change in gene expression/function: Qualitative change Quantitative change Any cancer causing genetic

More information

The Role of Next Generation Sequencing in Solid Tumor Mutation Testing

The Role of Next Generation Sequencing in Solid Tumor Mutation Testing The Role of Next Generation Sequencing in Solid Tumor Mutation Testing Allie H. Grossmann MD PhD Department of Pathology, University of Utah Division of Anatomic Pathology & Oncology, ARUP Laboratories

More information

Using genetic biomarkers to pre-identify oncology patients for clinical trials

Using genetic biomarkers to pre-identify oncology patients for clinical trials White paper Quintiles Vantage Point Quintiles helped develop or commercialize all of the Top 30 bestselling oncology products of 2014 Oncology pre-profiling: Using genetic biomarkers to pre-identify oncology

More information

Big Data Part I: Data-Driven Life Sciences Innovation, Personalized Medicine and Research

Big Data Part I: Data-Driven Life Sciences Innovation, Personalized Medicine and Research Big Data Part I: Data-Driven Life Sciences Innovation, Personalized Medicine and Research December 9, 2014 www.mwe.com Boston Brussels Chicago Düsseldorf Frankfurt Houston London Los Angeles Miami Milan

More information

Cancer Genomics & Precision Medicine in the 21 st Century. Lee J. Helman, MD Scientific Director for Clinical Research CCR, NCI

Cancer Genomics & Precision Medicine in the 21 st Century. Lee J. Helman, MD Scientific Director for Clinical Research CCR, NCI Cancer Genomics & Precision Medicine in the 21 st Century Lee J. Helman, MD Scientific Director for Clinical Research CCR, NCI Outline Define terms Describe vision for how genetic characterization of tumors

More information

El papel de la anatomía patológica en oncología: presente y futuro. The role of pathological anatomy in oncology: present and future

El papel de la anatomía patológica en oncología: presente y futuro. The role of pathological anatomy in oncology: present and future El papel de la anatomía patológica en oncología: presente y futuro The role of pathological anatomy in oncology: present and future Federico Rojo Fundación Jiménez Díaz, Madrid All patients with same diagnosis:

More information

Molecular pathology of thyroid cancers

Molecular pathology of thyroid cancers Molecular pathology of thyroid cancers Peter Lakatos 1st Department of Medicine Semmelweis University Thyroid nodules 4-7% of population with palpable nodules More frequent in women Incidence increasing

More information

Fredrik.Enlund@gu.se Sahlgrenska universitetssjukhuset

Fredrik.Enlund@gu.se Sahlgrenska universitetssjukhuset Fredrik.Enlund@gu.se Sahlgrenska universitetssjukhuset 1 Techniques for sarcoma diagnostics Molecular Pathology of Solid Tumors Uppsala 120924 Klinisk Molekylär Patologi Klinisk Patologi och Cytologi Gene

More information

Genetic Testing for Familial Adenomatous Polyposis and MYH-Associated Polyposis (Lynch Syndrome)

Genetic Testing for Familial Adenomatous Polyposis and MYH-Associated Polyposis (Lynch Syndrome) Harmony Behavioral Health, Inc. Harmony Behavioral Health of Florida, Inc. Harmony Health Plan of Illinois, Inc. HealthEase of Florida, Inc. Ohana Health Plan, a plan offered by WellCare Health Insurance

More information

FARMACI PERSONALIZZATI PER

FARMACI PERSONALIZZATI PER ISTITUTO NAZIONALE PER LO STUDIO E LA CURA DEI TUMORI FONDAZIONE G. Pascale NAPOLI SC Biologia Cellulare e Bioterapie CENTRO RICERCHE ONCOLOGICHE MERCOGLIANO (AV) Laboratorio di Farmacogenomica FARMACI

More information

Tissue Biomarkers in Oncology Clinical Development The Digital Advantage

Tissue Biomarkers in Oncology Clinical Development The Digital Advantage Tissue Biomarkers in Oncology Clinical Development The Digital Advantage Christopher Ung VP Strategic Business & Operations, Oncology TMD A Quintiles Laboratory 1 The Targeted Therapy Continuum Non-Targeted

More information

Oncomine Cancer Panel Patient Test Report

Oncomine Cancer Panel Patient Test Report Oncomine Cancer Panel Patient Test Report SUBJECT NFORMATON Pre-Screening Subject No.: Life Technologies Clinical Services Lab 910 Riverside Parkway, Suite 60 West Sacramento, CA 95605 Ph: (888) 734-8588

More information

Contents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer

Contents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer Contents Introduction: biology and medicine, two separated compartments What we need to know: - boring basics in DNA/RNA structure and overview of particular aspects of molecular biology techniques - How

More information

Breast cancer and the role of low penetrance alleles: a focus on ATM gene

Breast cancer and the role of low penetrance alleles: a focus on ATM gene Modena 18-19 novembre 2010 Breast cancer and the role of low penetrance alleles: a focus on ATM gene Dr. Laura La Paglia Breast Cancer genetic Other BC susceptibility genes TP53 PTEN STK11 CHEK2 BRCA1

More information

Targeted Therapy What the Surgeon Needs to Know

Targeted Therapy What the Surgeon Needs to Know Targeted Therapy What the Surgeon Needs to Know AATS Focus in Thoracic Surgery 2014 David R. Jones, M.D. Professor & Chief, Thoracic Surgery Memorial Sloan Kettering Cancer Center I have no disclosures

More information

Hereditary Breast Cancer Panels. High Risk Hereditary Breast Cancer Panel Hereditary Breast/Ovarian/Endometrial Cancer Panel

Hereditary Breast Cancer Panels. High Risk Hereditary Breast Cancer Panel Hereditary Breast/Ovarian/Endometrial Cancer Panel P A T I E N T G U I D E Hereditary Breast Cancer Panels High Risk Hereditary Breast Cancer Panel Hereditary Breast/Ovarian/Endometrial Cancer Panel B a y l o r M i r a c a G e n e t i c s L a b o r a t

More information

Targeted. sequencing solutions. Accurate, scalable, fast TARGETED

Targeted. sequencing solutions. Accurate, scalable, fast TARGETED Targeted TARGETED Sequencing sequencing solutions Accurate, scalable, fast Sequencing for every lab, every budget, every application Ion Torrent semiconductor sequencing Ion Torrent technology has pioneered

More information

Stage III & IV colon and rectal cancers share a similar genetic profile: a review of the Oregon Colorectal Cancer Registry

Stage III & IV colon and rectal cancers share a similar genetic profile: a review of the Oregon Colorectal Cancer Registry The American Journal of Surgery (2013) 205, 608-612 North Pacific Surgical Association Stage III & IV colon and rectal cancers share a similar genetic profile: a review of the Oregon Colorectal Cancer

More information

Dal germinale al somatico nella identificazione di tumori ereditari

Dal germinale al somatico nella identificazione di tumori ereditari Modena 18-19 novembre 2010 Dal germinale al somatico nella identificazione di tumori ereditari Laura Ottini Tendencies to develop cancer can be inherited Fletcher & Houlston, 2010 Cancer is a genetic disease

More information

Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation

Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation PN 100-9879 A1 TECHNICAL NOTE Single-Cell Whole Genome Sequencing on the C1 System: a Performance Evaluation Introduction Cancer is a dynamic evolutionary process of which intratumor genetic and phenotypic

More information

Canine Cancer Genomics

Canine Cancer Genomics Canine Cancer Genomics Heidi G. Parker, PhD Staff Scientist Cancer Genetics Branch National Human Genome Research Institute National Institutes of Health Dogs in Genetics 78.2 million dogs owned in U.S.

More information

LESSON 3.5 WORKBOOK. How do cancer cells evolve? Workbook Lesson 3.5

LESSON 3.5 WORKBOOK. How do cancer cells evolve? Workbook Lesson 3.5 LESSON 3.5 WORKBOOK How do cancer cells evolve? In this unit we have learned how normal cells can be transformed so that they stop behaving as part of a tissue community and become unresponsive to regulation.

More information

Individualizing Your Lung Cancer Care: Informing Decisions Through Biomarker Testing

Individualizing Your Lung Cancer Care: Informing Decisions Through Biomarker Testing Individualizing Your Lung Cancer Care: Informing Decisions Through Biomarker Testing These Are Hopeful Times for Lung Cancer Survivors When people first learn they have cancer, they are often afraid. But

More information

GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110

GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 COVERAGE: Pre- and post-genetic test counseling may be eligible for coverage in addition to the genetic

More information

Next Generation Sequencing: Technology, Mapping, and Analysis

Next Generation Sequencing: Technology, Mapping, and Analysis Next Generation Sequencing: Technology, Mapping, and Analysis Gary Benson Computer Science, Biology, Bioinformatics Boston University gbenson@bu.edu http://tandem.bu.edu/ The Human Genome Project took

More information

ASCO Initiatives in Personalized Medicine. Richard L. Schilsky, MD, FACP, FASCO Chief Medical Officer American Society of Clinical Oncology

ASCO Initiatives in Personalized Medicine. Richard L. Schilsky, MD, FACP, FASCO Chief Medical Officer American Society of Clinical Oncology ASCO Initiatives in Personalized Medicine Richard L. Schilsky, MD, FACP, FASCO Chief Medical Officer American Society of Clinical Oncology Financial Disclosures No financial relationships to disclose.

More information

The following information is only meant for people who have been diagnosed with advanced non-small cell

The following information is only meant for people who have been diagnosed with advanced non-small cell Important information for people with advanced non-small cell lung cancer The following information is only meant for people who have been diagnosed with advanced non-small cell lung cancer (NSCLC). NSCLC

More information

Pharmacogenomic Approaches. Luis Paz-Ares Hospital Universitario Virgen del Rocio Seville, Spain

Pharmacogenomic Approaches. Luis Paz-Ares Hospital Universitario Virgen del Rocio Seville, Spain Pharmacogenomic Approaches Luis Paz-Ares Hospital Universitario Virgen del Rocio Seville, Spain Pharmacogenetics & Pharmacogenomics Medicine tailored to the individual Genetic information, including the

More information

Genetic Testing for Lynch Syndrome/Colorectal Cancer and Polyposis Syndromes

Genetic Testing for Lynch Syndrome/Colorectal Cancer and Polyposis Syndromes Genetic Testing for Lynch Syndrome/Colorectal Cancer and Polyposis Syndromes Policy Number: Original Effective Date: MM.02.007 09/01/2011 Line(s) of Business: Current Effective Date: HMO; PPO 09/01/2011

More information

Genomic instability in cancers and cancer predispositions. Popova Tatiana Inserm U830 Institut Curie

Genomic instability in cancers and cancer predispositions. Popova Tatiana Inserm U830 Institut Curie Genomic instability in cancers and cancer predispositions Popova Tatiana Inserm U830 Institut Curie Time-scale in a tumor genome discovery Bovery HYP Cancer genome Knudson 2 hit HYP Tumor DNA has transforming

More information

Clinical Use of Molecular Diagnos@cs in the Treatment of Lung Cancer

Clinical Use of Molecular Diagnos@cs in the Treatment of Lung Cancer Clinical Use of Molecular Diagnos@cs in the Treatment of Lung Cancer Tianhong Tina Li, MD, PhD (thli@ucdavis.edu) Associate Professor of Clinical Medicine, School of Medicine Disclosures Grants/Research

More information

Essais de médicine personnalisée en cancérologie. Jean-Charles SORIA

Essais de médicine personnalisée en cancérologie. Jean-Charles SORIA Essais de médicine personnalisée en cancérologie Jean-Charles SORIA Cured Cancer patients 2.8 M / year in the EU Local failure Not cured Distant failure Cured Cancer patients 2.8 M / year in the EU Not

More information

NEIGE. diagnosis In oncogenetics. Nicolas Sévenet 02 juillet 2012. n.sevenet@bordeaux.unicancer.fr

NEIGE. diagnosis In oncogenetics. Nicolas Sévenet 02 juillet 2012. n.sevenet@bordeaux.unicancer.fr NEIGE g for molecular NExt g generation sequencing diagnosis In oncogenetics Nicolas Sévenet 02 juillet 2012 n.sevenet@bordeaux.unicancer.fr t@b d i f Reports 15 years Next generation sequencing 06/2011

More information

Successes and Limitations of Targeted Cancer Therapy in Lung Cancer

Successes and Limitations of Targeted Cancer Therapy in Lung Cancer Successes and Limitations of Targeted Cancer Therapy in Lung Cancer Kenichi Suda a, b Tetsuya Mitsudomi a a Division of Thoracic Surgery, Department of Surgery, Kinki University Faculty of Medicine, Osaka-Sayama,

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Genetic Cancer Susceptibility Panels Using Next Generation Sequencing File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_cancer_susceptibility_panels_using_next_generation_sequencing

More information

A Decision Support Tool to Facilitate Cancer Risk Assessment and Referral for Genetics Services. Kristen Vogel Postula, MS, CGC & Leigh Baumgart, PhD

A Decision Support Tool to Facilitate Cancer Risk Assessment and Referral for Genetics Services. Kristen Vogel Postula, MS, CGC & Leigh Baumgart, PhD A Decision Support Tool to Facilitate Cancer Risk Assessment and Referral for Genetics Services Kristen Vogel Postula, MS, CGC & Leigh Baumgart, PhD Importance of Family History Increasing awareness of

More information

Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare

Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare Maria Chiara Zatelli Sezione di Endocrinologia Direttore: Prof. Ettore degli Uberti Dipartimento di Scienze Mediche Università

More information

Rilevanza dell innovazione tecnologica per la

Rilevanza dell innovazione tecnologica per la Rilevanza dell innovazione tecnologica per la ricerca traslazionale e la terapia in oncologia Ruggero De Maria Dipartimento di Ematologia Oncologia e Medicina Molecolare, Istituto Superiore di Sanità Translational

More information

PREDICT. Comprehensive Hereditary Cancer Risk Assessment

PREDICT. Comprehensive Hereditary Cancer Risk Assessment PREDICT Comprehensive Hereditary Cancer Risk Assessment 1451 NORTHSIDE DRIVE NW SUITE A ATLANTA, GA 30318 (tel) 404.228.5027 (fax) 404.343.0087 LABSOLUTIONS.COM LABSOLUTIONS is pleased to offer its clients

More information

ALCHEMIST (Adjuvant Lung Cancer Enrichment Marker Identification and Sequencing Trials)

ALCHEMIST (Adjuvant Lung Cancer Enrichment Marker Identification and Sequencing Trials) ALCHEMIST (Adjuvant Lung Cancer Enrichment Marker Identification and Sequencing Trials) 3 Integrated Trials Testing Targeted Therapy in Early Stage Lung Cancer Part of NCI s Precision Medicine Effort in

More information

Molekylært målrettet medicinsk kræftbehandling for klinikere principper og metoder

Molekylært målrettet medicinsk kræftbehandling for klinikere principper og metoder Molekylært målrettet medicinsk kræftbehandling for klinikere principper og metoder Professor Claus Lindbjerg Andersen Department of Molecular Medicine (MOMA) Aarhus University hospital Outline The central

More information

Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers

Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers RESEARCH ARTICLE Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers Nicky D Haene 1, Marie Le Mercier 1, Nancy De Nève 1, Oriane Blanchard 1, Mélanie Delaunoy 2, Hakim

More information

(accession numbers listed in Table S1), and were to the human genome assembly

(accession numbers listed in Table S1), and were to the human genome assembly Materials and Methods Primer design The cdna sequences of receptor tyrosine kinases were obtained from GenBank (accession numbers listed in Table S1), and were to the human genome assembly (http://genome.ucsc.edu)

More information

Molecular Human Genetics. Cancer, Tumor suppressor genes, Oncogenes

Molecular Human Genetics. Cancer, Tumor suppressor genes, Oncogenes Youtube ARCC http://www.youtube.com/watch?v=3pobqrfz0no It's Our Time - American Association for Cancer Research (AACR) Molecular Human Genetics Cancer, Tumor suppressor genes, Oncogenes Hum 2014/15 1

More information

White paper Evaluation of BRAF (V600E) Mutation by Immunohistochemical Staining with anti-braf V600E (VE1) Antibody: A Comparison with Sanger

White paper Evaluation of BRAF (V600E) Mutation by Immunohistochemical Staining with anti-braf V600E (VE1) Antibody: A Comparison with Sanger White paper Evaluation of BRAF (V600E) Mutation by Immunohistochemical Staining with anti-braf V600E (VE1) Antibody: A Comparison with Sanger Sequencing 2 Evaluation of BRAF (V600E) Mutation by Immunohistochemical

More information

Overview of testing for Lynch syndrome/hnpcc

Overview of testing for Lynch syndrome/hnpcc Overview of testing for Lynch syndrome/hnpcc This overview provides detailed information about interpreting MSI/IHC testing and genetic testing for Lynch syndrome/hnpcc. It is intended to be a reference

More information

Product Catalog. HDx Reference Standards Identify and Control Variability Every Day. www.horizondiscovery.com HORIZON DIAGNOSTICS

Product Catalog. HDx Reference Standards Identify and Control Variability Every Day. www.horizondiscovery.com HORIZON DIAGNOSTICS HORIZON DIAGNOSTICS Product Catalog For Research Use Only HDx Reference Standards Identify and Control Variability Every Day www.horizondiscovery.com Independent External Controls Sanger, NGS, qpcr, FISH,

More information

targeted cancer therapy

targeted cancer therapy LUNG CANCER TREATMENTS What you need to know about... targeted cancer therapy foreword About LUNGevity LUNGevity is the largest national lung cancer-focused nonprofit, changing outcomes for people with

More information

BRCAplus: A Genetic Test for Hereditary Breast Cancer

BRCAplus: A Genetic Test for Hereditary Breast Cancer BRCAplus: A Genetic Test for Hereditary Breast Cancer Developed in collaboration with Fox Chase Cancer Center and the Arcadia University Genetic Counseling Program. Causes of Hereditary Breast Cancer Familial,

More information

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples DATA Sheet Single-Cell DNA Sequencing with the C 1 Single-Cell Auto Prep System Reveal hidden populations and genetic diversity within complex samples Single-cell sensitivity Discover and detect SNPs,

More information

THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH

THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH ABOUT THIS WORKSHEET This worksheet complements the Click and Learn The Eukaryotic Cell Cycle and Cancer and is intended as an in-depth examination of the

More information

High-quality genomic DNA isolation and sensitive mutation analysis

High-quality genomic DNA isolation and sensitive mutation analysis Application Note High-quality genomic DNA isolation and sensitive mutation analysis Izabela Safin, Ivonne Schröder-Stumberger and Peter Porschewski Introduction A major objective of cancer research is

More information

CHAPTER 2: UNDERSTANDING CANCER

CHAPTER 2: UNDERSTANDING CANCER CHAPTER 2: UNDERSTANDING CANCER INTRODUCTION We are witnessing an era of great discovery in the field of cancer research. New insights into the causes and development of cancer are emerging. These discoveries

More information

Targeted Therapies in Lung Cancer

Targeted Therapies in Lung Cancer Targeted Therapies in Lung Cancer I Edited by: Simona Carnio Thoracic Oncology Division - St Luigi Hospital Orbassano (TO) - Italy Silvia Novello Department of Oncology - University of Torino - Italy Why

More information

MetAction actionable targets in cancer metastasis from bed to bench to byte to bedside

MetAction actionable targets in cancer metastasis from bed to bench to byte to bedside MetAction actionable targets in cancer metastasis from bed to bench to byte to bedside Kjersti Flatmark MD PhD Departments of Tumor Biology and Gastroenterological Surgery, Oslo University Hospital PIs:

More information

A powerful model of endometrial carcinogenesis! molecular analysis and rational design of immunological intervention approaches

A powerful model of endometrial carcinogenesis! molecular analysis and rational design of immunological intervention approaches A powerful model of endometrial carcinogenesis! molecular analysis and rational design of immunological intervention approaches Afrouz Behboudi PhD, Associate Prof. School of Life Sciences, University

More information

Molecular analyses of EGFR: mutation and amplification detection

Molecular analyses of EGFR: mutation and amplification detection Molecular analyses of EGFR: mutation and amplification detection Petra Nederlof, Moleculaire Pathologie NKI Amsterdam Henrique Ruijter, Ivon Tielen, Lucie Boerrigter, Aafke Ariaens Outline presentation

More information

Avances en biología molecular en gliomas de alto grado

Avances en biología molecular en gliomas de alto grado Avances en biología molecular en gliomas de alto grado Dra. Avelina Tortosa Campus Ciencies de la Salut Bellvitge IDIBELL-Universitat de Barcelona atortosa@ub.edu Goal: to profile a large cohort of GBMs

More information

Hereditary Breast Cancer Testing. Diagnostic

Hereditary Breast Cancer Testing. Diagnostic Hereditary Cancer Testing Diagnostic New solutions for hereditary breast cancer. Identifying and understanding the genetic contribution to breast cancer allows for individualized disease management and

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Molecular Analysis for Targeted Therapy for Non-Small Cell Lung File Name: Origination: Last CAP Review: Next CAP Review: Last Review: molecular_analysis_for_targeted_therapy_for_non_small_cell_lung_cancer

More information

Sommaire projets sélectionnés mesure 29: Soutien à la recherche translationnelle

Sommaire projets sélectionnés mesure 29: Soutien à la recherche translationnelle Sommaire projets sélectionnés mesure 29: Soutien à la recherche translationnelle TITLE PROJET NOM HOPITAL Assessment of tumor angiogenesis using PET/CT with 18 F-Galacto- RGD. (PNC_29_001) Division of

More information

Description: Molecular Biology Services and DNA Sequencing

Description: Molecular Biology Services and DNA Sequencing Description: Molecular Biology s and DNA Sequencing DNA Sequencing s Single Pass Sequencing Sequence data only, for plasmids or PCR products Plasmid DNA or PCR products Plasmid DNA: 20 100 ng/μl PCR Product:

More information

Resolving Cancer Heterogeneity:

Resolving Cancer Heterogeneity: INTERNATIONAL SYMPOSIUM ON: Resolving Cancer Heterogeneity: The way to personalised medicine Palazzo della Gran Guardia Verona (Italy), June 30 th July 2 nd, 2016 PROGRAM Organized by: ARC-Net Centre for

More information

The Role of Genetic Testing in the Evaluation of Thyroid Nodules. Thyroid Cancer and FNA. Thyroid Cancer. Pure Follicular Cancers.

The Role of Genetic Testing in the Evaluation of Thyroid Nodules. Thyroid Cancer and FNA. Thyroid Cancer. Pure Follicular Cancers. Where does Molecular Analysis of FNA Specimens fit into the evaluation of thyroid nodules? The Role of Genetic Testing in the Evaluation of Thyroid Nodules Ultrasound TSH Risk factors Jill E. Langer, MD

More information

Guideline Development The American Society of Clinical Oncology

Guideline Development The American Society of Clinical Oncology Assessing Genomic Sequencing Information for Health Care Decision Making Decision Making Once Evidence is Assessed/Graded Evaluated Guideline Development The American Society of Clinical Oncology Gary

More information

Corporate Medical Policy Molecular Markers in Fine Needle Aspirates of the Thyroid

Corporate Medical Policy Molecular Markers in Fine Needle Aspirates of the Thyroid Corporate Medical Policy Molecular Markers in Fine Needle Aspirates of the Thyroid File Name: Origination: Last CAP Review: Next CAP Review: Last Review: molecular_markers_in_fine_needle_aspirates_of_the_thyroid

More information

Lung Carcinomas New 2015 WHO Classification. Spasenija Savic Pathology

Lung Carcinomas New 2015 WHO Classification. Spasenija Savic Pathology Lung Carcinomas New 2015 WHO Classification Spasenija Savic Pathology ***EXPECTED SPRING 2015*** This authoritative, concise reference book provides an international standard for oncologists and pathologists

More information

The Genetics of Early- Onset Breast Cancer. Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine

The Genetics of Early- Onset Breast Cancer. Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine The Genetics of Early- Onset Breast Cancer Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine All cancers are genetic BUT Not all cancers are hereditary

More information

Humanity s fight against cancer has always been

Humanity s fight against cancer has always been 10 this time, it s Personal In what is an exciting era in the evolution of oncology treatment, this special feature by Deborah J. Ausman explores how Next-Generation Sequencing and Convergent Informatics

More information

Test Information Sheet

Test Information Sheet Test Information Sheet GeneDx 207 Perry Parkway Gaithersburg, MD 20877 Phone: 888-729-1206 Fax: 301-710-6594 E-mail: wecare@genedx.com www.genedx.com/oncology OncoGene Dx: Breast/Ovarian Cancer Panel Sequence

More information