A CANCER GENETICIST S (2 ND ) BEST FRIEND IS THEIR PATHOLOGIST. Dr Alan Donaldson Consultant in Clinical Genetics St Michaels Hospital Bristol
|
|
- Agnes Anderson
- 5 years ago
- Views:
Transcription
1 A CANCER GENETICIST S (2 ND ) BEST FRIEND IS THEIR PATHOLOGIST Dr Alan Donaldson Consultant in Clinical Genetics St Michaels Hospital Bristol
2 Topics to be covered How pathology contributes to genetic diagnosis in: Lynch syndrome. Genodermatosis. Kidney cancer. Breast / ovarian cancer. Genetic testing 100,000 genomes project
3 Lynch Syndrome. Hereditary non polyposis colorectal cancer HNPCC Autosomal Dominant disorder. Due to mutations in one of the mismatch repair genes. MSH2 50% MLH1 40% MSH6 ~7% PMS2 <5% (TACSD1) ~1-2% Accounts for 1-5% of all colon cancers.
4 Amsterdam Criteria Three or more family members, one of whom is a first degree relative of the other two, with HNPCC-related cancers*. Two successive affected generations. One or more of the HNPCC-related cancers diagnosed before age 50 years. Exclusion of (FAP). * Colon, endometrial, small intestine, hepatobiliary, urinary tract.
5 Lynch Syndrome Cancer risks Lynch (Pop.) Colon 50-80% (5%) Endometrial 25-60% (2.7%) Ovary 4-12% (2%) Gastric 6-13% (<1%) Urinary Tract <4% (<1%) Small Bowel 3-6% (<1%) Sebaceous Neop 1-9% (<1%)
6 DNA Mismatch repair defect DNA repair system DNA Mutation(s) Cancer Mutagen Replication error
7 Mismatch repair function MSH6 MSH2 MSH3 HmutS HmutS TTT TTTT TTT TTTTT TTTTTTTT TTTTTTTTTTTTTT PMS1 HmutL? MLH3 PMS2 MLH1
8 Immunohistochemical (IHC) staining of the mismatch repair proteins MLH1 PMS2 MSH2 MSH6
9 Advantages / disadvantages of IHC Advantages. Cheap. Tells you what gene is involved. Disadvantages. Preoperative chemotherpay may give a false positive result. Still need to extract DNA for Braf / hypermethylation.
10 Microsatellite instability (MSI) 1.
11 Normal tissue Tumour tissue Arrows indicated additional peaks and microsatellite instability.
12 Sporadic loss of MLH % of all colorectal cancers. Associated with DNA methylation. Associated with BrafV600E in colonic tumours, but not endometrial.
13 Advantages / disadvantages of MSI Advantages. Better sensitivity & Specificity than IHC. Able to detect BRAFV600E mutations. Disadvantages. More expensive than IHC. Doesn t tell you what gene is involved.
14 Why do tumour analysis? To identify 1-5% of individuals whose colon cancer may be due to Lynch syndrome, for DNA analysis. ~15% of colon cancers are MSI high. Generally have a better outcome. Poorer response to 5 Fluorouracil?
15 Which Lynch related tumours to test? Colon Endometrial Ovary X Gastric X Small bowel? Urinary tract? Bowel polyps?
16 Who is ordering these tests? Dermatology Oncology Gynaecology Surgery? Pathology? Reflex testing Genetics
17 Lynch Syndrome NICE guidelines
18 Genodermatoses. Muir Torre Birt Hogg Dube Hereditary leiomyomatosis & renal cell cancer (HLRCC) Pten Hamartoma syndrome
19 What is Muir-Torre? Combination of sebaceous neoplasms of the skin. sebaceous adenomas sebaceous carcinomas epitheliomas Keratoacanthomas & one or more internal malignancies. Is this the same as Lynch syndrome?
20 Roberts et al 2013, Journal of Genetic Counselling 90 sebaceous neoplasms tested for loss of IHC MMR proteins 51 (7%) showed abnormal IHC 40 non MTS 11 suspected MTS 14 tested 8 had mutations (MSH2 6, MSH6 2) Positive predictive value 24% 16/90 post renal transplant patients 14/16 had loss of IHC Conclusion: IHC has poor diagnostic utuility
21 Roberts et al 2014, Genetics in Medicine Variable Score: Age at sebaceous neoplasm diagnosis (years) 60 or older 0 Younger than 60 1 Total number of sebaceous neoplasms or more 2 Personal history of any Lynch-related cancer No 0 Yes 1 Family history of any Lynch-related cancer No 0 Yes don t test 2+ test
22 Muir Torre syndrome without MSI / Loss of IHC. MutYH associated polyposis (MAP) Recessive >15 colonic polyps Upper GI polyps Other cancers e.g thyroid ( 2 of Roberts patients found to have MAP)
23 STK11 GI track Hamartomatous polyps small & large bowel Colon cancer Small bowel cancer Pancreatic cancer Breast cancer Peutz Jeghers
24 Clear cell VHL SDHB, SDHC CDKN2B FLCN Papillary SDHB, SDHC Met (type1) Fumarase (type 2) Pten Kidney cancer hybrid oncocytic renal cell carcinoma / oncocytoma / chromophobe renal cell carcinoma FLCN
25 Pten Hamartoma syndrome (Cowden, Ruvalcaba- Myhre syndrome) Skin lesions Trichilemmomas Papillomatous lesions Mucosal lesions Macrocephaly Cancer Kidney Breast Thyroid Endometrial Colon Learning difficulties Diffuse esophageal glycogenic acanthosis
26 Folliculin (FLCN) mutations. Skin Fibrofolliculomas Trichodiscomas Kidney Kidney cysts Kidney cancer Lung Cysts Pneumothorax Colon cancer? Birt Hogg Dube
27 Hereditary leiomyomatosis & renal cell cancer (HLRCC) Fumarase mutations. Skin Leiomyomas Uterus Leiomyomas Kidney Kidney cysts Type 2 papillary renal cancer.
28 BRCA1 & 2 P53 Hereditary breast cancer Li fraumeni syndrome Breast cancer triple +ve Sarcomas Leukemia / lymphomas Brain tumours CDH1 Lobular breast cancer Diffuse gastric cancer Palb2 Breast cancer Pancreatic cancer Pten STK11
29 BRCA1 & 2 are involved in repairing double stranded breaks.
30 But so are a lot of other genes.
31 % BRCA related lifetime cancer risks. BRCA1 BRCA2 Breast. Up to 80 Up to 80 Male breast. ~6 Ovary. Up to 63 Up to 27 Prostate Colon. - Gastric. - Pancreas. 3-5
32 BRCA related tumour pathology. Breast cancer: Triple negative tumours BRCA1 & BRCA2 ER negative BRCA1 Her2 negative BRCA1 Lobular unlikely BRCA1. Ovarian Cancer: Non Mucinous, usually high grade serous. Not borderline.
33 PARP (Poly ADP ribose polymerase) inhibitors.
34 3.2 billion base pairs ~23,000 genes a typical [individual] genome differs from the reference human genome at 4.1 million to 5.0 million sites (Usually ) requires a blood sample from an affected individual for analysis Genetic testing
35 Next generation sequencing (NGS) Panels Clinical exomes Whole genomic sequencing (WGS)
36 Cancer panels Cancer gene panel menu of genes for analysis Patient Details (minimum requirement: full name and NHS number or other identifier on all pages) Surname: First Name(s): NHS No: OR Other unit number: Comments: Requesting Clinician Print: Signature: Surname: First Name(s): NHS No: OR Other unit number: Panel Required Additional phenotypes available Genes Carney complex Cyclindromatosis, trichoepithelioma DICER1-pleuropulmonary blastoma familial tumour predisposition syndrome PRKAR1A CYLD DICER1 Please select genes for next generation sequence and dosage analysis by: a) Check the box for panel(s) required - from inherited cancer, additional phenotypes, inherited haematological panels sections or b) Check a customised selection of genes from the full 155 gene list Please send this menu, with our referral form ( and sample to: Leeds Genetics Laboratory (molecular genetics), Ashley Wing, St James's University Hospital, Leeds LS9 7TF, UK If the laboratory already has a sample banked, this form alone is sufficient to activate analysis. a) Panel Required Inherited cancer panels: Genes + and * genes - See notes on page 3 Diffuse gastric cancer Hereditary multiple exostoses Inherited lung cancer Nevoid basal cell carcinoma syndrome Retinoblastoma Rubinstein-Taybi syndrome Tuberous sclerosis Wilms tumour CDH1 EXT1, EXT2 EGFR PTCH1, SUFU RB1 CREBBP TSC1, TSC2 BUB1B, CDC73, CDKN1C, CTR9, DIS3L2, GPC3, REST, WT1 Bowel Breast including ovary APC +, BMPR1A, EPCAM*, GREM1* (& SCG5*), MLH1, MSH2 +, MSH6, MUTYH, NTHL1, POLE, POLD1, PMS2, PTEN, SMAD4, STK11 BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53 Panel(s) Required Inherited haematological disorders Genes Myelodysplastic syndromes/ Acute leukaemia ANKRD26 +, CBL, CEBPA, CSF3R, DDX41 +, ELANE, ETV6, GATA2, G6PC3, GFI1, HOXA11, HAX1, HRAS, NF1, NSD1, PTPN11, RUNX1, RBM8A, SRP72, TERC, TERT +, THPO, TP53, NBN, PAX5 Kidney FH, FLCN, MET, PTEN, SDHB, SDHC, SDHD, STK11, TMEM127, VHL Aplastic anaemia (including Nijmegan breakage & Schwachman-Diamond syndrome) Ataxia telangiectasia NBN, PRF1, SBDS, SRP72, TINF2, TERC, TERT + ATM Neurofibromatosis, schwannoma, meningioma, and café au lait BAP1, LZTR1, PTEN, NF1, NF2, SMARCB1, SMARCE1, SPRED1, SUFU Bloom syndrome BLM Pancreas Pituitary cancer, parathyroid, hypercalcaemia, adrenal adenoma/hyperplasia. Pheochromocytoma and paraganglioma BRCA2, CDK4, CDKN2A +, PALB2, STK11 AIP, CASR, CDC73, CDKN1B, MEN1, PDE8B, PDE11A, PRKAR1A, RET EGLN1, EGLN2, KIF1B, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL Diamond-Blackfan anaemia Dyskeratosis congenita (including telomere biology disorders) Fanconi Anaemia Rothmund-Thomson Syndrome RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7 DKC1, TERC, TERT +, TINF2, NHP2, NOP10, POT1 BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4 RECQL4 Skin cancer melanoma BAP1, BRCA2, CDK4, CDKN2A +, POT1, POLE, TERT + Uterus FH, MLH1, MSH2 +, MSH6, PMS2, PTEN, STK11 Severe congenital neutropenia Thrombocytopenia Thromobocythaemia CSF3R, ELANE, G6P3C, GFI1, HAX1, WAS ANKRD26 +, ETV6, HOXA11, RBM8A, RUNX1, WAS JAK2, THPO
37 Cancer panels Surname: First Name(s): NHS No: OR Other unit number: c) Complete gene 155 list : Custom Selection AIP AKT1 ALK ANKRD26 APC + ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1B CASR CBL CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A + CEBPA CHEK2 CREBBP CSF3R CTRC CTR9 CYLD DDX41 + DICER1 DIS3L2 DKC1 EGFR EGLN1 EGLN2 ELANE EPCAM* ERCC4 ETV6 EXT1 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FH FLCN G6PC3 GALNT12 GATA2 GFI1 GPC3 GREM1* (&SCG5) HAX1 HNF1A HOXA11 HOXB13 HRAS JAK2 KIF1B KIT LZTR1 MAX MEN1 MET MITF MLH1 MSH2 + MSH6 MUTYH NBN NDUFA13 NF1 NF2 NHP2 NOP10 NSD1 NTHL1 NUDT1 OGG1 PALB2 PAX5 PDE11A PDE8B PDGFRA PHOX2B PIK3CA PMS2 POLD1 POLE POT1 PRF1 PRKAR1A PTCH1 PTEN PTPN11 RAD51C RAD51D RB1 RBM8A RECQL4 REST RET RHBDF2 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS29 RPS7 RUNX1 SBDS SDHA SDHAF2 SDHB SDHC SDHD SLX4 SMAD4 SMARCB1 SMARCE1 SOS1 SOS2 SPINK1 SPRED1 SRP72 STK11 SUFU TERC TERT + TGFBR1 THPO TINF2 TMEM127 TP53 TSC1 TSC2 VHL WAS WT1 WRN Notes: Genes listed in red have more limited evidence regarding a role in hereditary cancer. They represent moderate/low penetrant genes or risk factors where guidelines for clinical management may not be well characterized. Dosage analysis is performed for all genes using NGS coverage data, any changes detected are confirmed by an independent method where possible (e.g. MLPA) and details specified at reporting. *Genes where ONLY dosage assessment performed. + Genes where analysis includes regions outside the normal scope of the assay (i.e. normal scope = all coding exons +/- 20bp flanking intronic sequence; please contact the laboratory or refer to our website for details)
38 2 main arms Rare diseases 100,000 genomes project Common cancers Germline Tumour
39 WGA report cancer
40 WGA report cancer
41 WGA report cancer
42 WGA report cancer
43 Any questions?
CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION
CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION CentoCancer our most comprehensive oncogenetics panel for hereditary mutations Hereditary pathogenic variants confer an increased risk of developing
More informationDNA Genetic Cancer Risk Test. Test Report
Test Report CONTENTS SECTION 1 1-1. Customer Information 1-2. Test Report Summary 1-3. Test Report Details 1-4. List of Cancers / Tumors Tested SECTION 2 2-1. About the Test 2-2. References 1 CL0040-1_B
More informationpatient guide CancerNext-Expanded genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention
patient guide CancerNext-Expanded genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention Know the Basics Cancer occurs in about 1 in 3 adults in their lifetime
More informationGenetic Risk Assessment for Cancer
Genetic Risk Assessment for Cancer Jennifer Siettmann, MS CGC Certified Genetic Counselor Banner MD Anderson Cancer Center Objectives Describe the role of genetic counseling and genetic testing in patient
More informationList of diseases covered by Cancer Predisposition NGS panel
List of diseases covered by Cancer Predisposition NGS panel Gene Condition AIP Pituitary adenoma 1, multiple types ALK Neuroblastoma, susceptibility to, 3 APC Adenomatous polyposis coli; Colorectal cancer,
More informationGermline Multigene Panel Testing in Oncology: Genetic Counseling Perspective
Germline Multigene Panel Testing in Oncology: Genetic Counseling Perspective Sarah L. Campian, MS CGC Certified Genetic Counselor Nancy & James Grosfeld Cancer Genetics Center Objectives Identify patients/families
More informationClinical Cancer Genetics
Clinical Cancer Genetics Lisen Axell, MS, CGC University of Colorado Cancer Center Individuals with cancer Making surgical decisions (lump vs. mast) Making treatment decisions (XRT) Concerns for additional
More informationThe Next Generation of Hereditary Cancer Testing
The Next Generation of Hereditary Cancer Testing Why Genetic Testing? Cancers can appear to run in families. Often this is due to shared environmental or lifestyle patterns, such as tobacco use. However,
More informationGYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer
GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer Causes of Hereditary Ovarian and Uterine Cancer uterine cancer ovarian cancer Sporadic 75-90% Sporadic 70-80% Hereditary, 5% Lynch syndrome
More informationGYNplus. genetic testing for hereditary ovarian and/or uterine cancer
GYNplus genetic testing for hereditary ovarian and/or uterine cancer What Are the Causes of Hereditary Ovarian and Uterine Cancer? uterine cancer ovarian cancer sporadic 70-80% hereditary 5% Lynch syndrome
More informationGenetic Risk Assessment for Cancer
Genetic Risk Assessment for Cancer Jennifer Siettmann, MS CGC Certified Genetic Counselor/Cancer Risk Counselor Banner Good Samaritan Cancer Screening & Prevention Program Objectives Describe the role
More informationWHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.
WHAT IS A GENE? CHROMOSOME E GEN DNA A gene is made up of DNA. It carries instructions to make proteins. The proteins have specific jobs that help your body work normally. PROTEIN 1 WHAT HAPPENS WHEN THERE
More informationWHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.
WHAT IS A GENE? CHROMOSOME GENE DNA A gene is made up of DNA. It carries instructions to make proteins. The proteins have specific jobs that help your body work normally. PROTEIN 1 WHAT HAPPENS WHEN THERE
More informationMedical Policy An independent licensee of the Blue Cross Blue Shield Association
Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Page 1 of 35 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: Genetic Cancer Susceptibility
More informationCorporate Medical Policy
Corporate Medical Policy Genetic Cancer Susceptibility Panels Using Next Generation File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_cancer_susceptibility_panels_using_next_generation_sequencing
More informationOncoGeneDx Test Requisition Form
OncoGeneDx Test Requisition Form Patient Information First name Last name Gender Male Female of birth (mm/dd/yy) Ancestry Caucasian Eastern European Northern European Western European Native American Middle
More informationGenetic Cancer Susceptibility Panels Using Next Generation Sequencing
Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Policy Number: 2.04.93 Last Review: 7/2018 Origination: 7/2013 Next Review: 7/2019 Policy Blue Cross and Blue Shield of Kansas City
More informationGenetic Cancer Susceptibility Panels Using Next Generation Sequencing
Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Policy Number: 2.04.93 Last Review: 7/2017 Origination: 7/2013 Next Review: 7/2018 Policy Blue Cross and Blue Shield of Kansas City
More informationCOLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014
COLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014 WENDY MCKINNON, MS, CGC CERTIFIED GENETIC COUNSELOR FAMILIAL CANCER PROGRAM UNIVERSIT Y OF VERMONT MEDICAL CENTER 1 CHARACTERISTICS
More informationDiagnostic and Treatment of Patients with Primary and Metastatic Breast Cancer
Diagnostic and Treatment of Patients with Primary and Metastatic Breast Cancer Breast Cancer Risk and Prevention Breast Cancer Risk and Prevention Versions 2003 2017: Schmutzler / Albert / Blohmer / Fasching
More informationAre you at risk of Hereditary Cancer? Your Guide to the Answers
Are you at risk of Hereditary Cancer? Your Guide to the Answers What is Hereditary Cancer? The genes we are born with may contribute to our risk of developing certain types of cancer, including breast,
More informationDivision of Genomic Diagnostics CANCER GENOMIC TEST REQUISITION Page 1 of 6
Page 1 of 6 SHIP TO: Children s Hospital of Philadelphia, Genomic Diagnostic Laboratory, 3615 Civic Center Blvd., Abramson Research Center, 714, Philadelphia, PA 19104-4302 - Phone: (215) 590-4452 Patient
More informationOncoGeneDx Test Requisition Form
OncoGeneDx Test Requisition Form Patient Information First name Last name Gender Male Female Date of birth (mm/dd/yy) Ancestry Caucasian Eastern European Northern European Western European Native American
More informationGenetic testing for hereditary cancer
Genetic testing for hereditary cancer THE GENETICS OF HEREDITARY CANCER About half of all men and one-third of all women in the US will develop cancer during their lifetimes. Approximately 5% to 10% of
More informationThe benefit of. knowing. Genetic testing for hereditary cancer. A patient support guide
The benefit of knowing Genetic testing for hereditary cancer A patient support guide Does cancer run in your family? Cancer is more common in some families. Sometimes cancer is caused by a change in a
More informationGenetic Testing for Familial Gastrointestinal Cancer Syndromes. C. Richard Boland, MD La Jolla, CA January 21, 2017
Genetic Testing for Familial Gastrointestinal Cancer Syndromes C. Richard Boland, MD La Jolla, CA January 21, 2017 Disclosure Information C. Richard Boland, MD I have no financial relationships to disclose.
More informationMyriad Financial Assistance Program (MFAP)
Myriad Financial Assistance Program (MFAP) MEDICAL CRITERIA Hereditary Cancer Products The Myriad Financial Assistance Program offers aid to patients who meet specific financial and medical requirements.
More informationA guide to genetic testing for hereditary cancers
Cancer Testing Solutions A guide to genetic testing for hereditary cancers The benefit of knowing TM Hereditary cancer genetic testing can play a critical role in managing health Cancer touches millions
More informationPopulations Interventions Comparators Outcomes Individuals: With a personal and/or family history suggesting an inherited cancer syndrome
Genetic Cancer Susceptibility Panels Using Next- Generation (20493) Medical Benefit Effective Date: 01/01/18 Next Review Date: 09/18 Preauthorization No Review Dates: 09/13, 09/14, 09/15, 09/16, 09/17
More informationBRCAplus. genetic testing for hereditary breast cancer
BRCAplus genetic testing 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 informationTGL clinical User Guide
TGL clinical User Guide The Institute of Cancer Research Brookes Lawley Building 15 Cotswold Road Sutton, Surrey SM2 5NG Page 1 of 7 TGL clinical This document describes the services provided by TGL clinical
More informationComprehensive Test Menu December 2018
Comprehensive Test Menu December 2018 Cancer brain tumors Brain tumors, hereditary BrainTumorNext: 27 genes 14-21 days 8847 Neurofibromatosis type 2 (NF2) NF2 14-21 days 9024 Schwannomatosis SMARCB1 14-21
More informationLearn your genetic risk for the most common hereditary cancers.
Learn your genetic risk for the most common hereditary cancers. color.com Color analyzes 30 genes including BRCA1 and BRCA2 to help women and men understand their risk for the most common hereditary cancers,
More informationGermline Testing for Hereditary Cancer with Multigene Panel
Germline Testing for Hereditary Cancer with Multigene Panel Po-Han Lin, MD Department of Medical Genetics National Taiwan University Hospital 2017-04-20 Disclosure No relevant financial relationships with
More informationA 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 informationHereditary Cancer Update: What do GPOs need to know?
Hereditary Cancer Update: What do GPOs need to know? Mary McCullum, RN, MSN, CON(C) Nurse Educator, Hereditary Cancer Program BC Cancer Agency October 1, 2016 Conflict of Interest Disclosure Nothing to
More informationYes when meets criteria below. Dean Health Plan covers when Medicare also covers the benefit.
Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post test genetic counseling is
More informationMOLECULAR SERVICES. mlabs.umich.edu
MOLECULAR SERVICES mlabs.umich.edu 800.862.7284 PICTURED ON LEFT IS MARWAN TAYEH, PH.D, CLINICAL ASSISTANT PROFESSOR, PEDIATRICS - GENETICS, ON RIGHT IS TODD ACKLEY, LABORATORY MANAGER MLabs is a full-service
More informationComprehensive Test Menu August 2018
Comprehensive Test Menu August 2018 Cancer brain tumors Brain tumors, hereditary BrainTumorNext: 27 genes 14-21 days 8847 Neurofibromatosis type 2 (NF2) NF2 14-21 days 9024 Schwannomatosis SMARCB1 14-21
More informationColorectal Cancer - Working in Partnership. David Baty Genetics, Ninewells Hospital
Colorectal Cancer - Working in Partnership David Baty Genetics, Ninewells Hospital Genetics and Pathology National initiatives Colorectal cancer Inherited CRC Sporadic CRC The Liquid Biopsy The future?
More information6/8/17. Genetics 101. Professor, College of Medicine. President & Chief Medical Officer. Hereditary Breast and Ovarian Cancer 2017
Genetics 101 Hereditary Breast and Ovarian Cancer 2017 Rebecca Sutphen, MD, FACMG Professor, College of Medicine President & Chief Medical Officer INVASIVE CANCER GENETICALLY ALTERED CELL HYPERPLASIA DYSPLASIA
More informationGenetic Cancer Susceptibility Panels Using Next Generation Sequencing. Policy Specific Section: September 27, 2013 January 30, 2015
Medical Policy Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Type: Investigational / Experimental Policy Specific Section: Laboratory/Pathology Original Policy Date: Effective Date:
More informationInherited colon cancer and other inherited cancer predispositions. Dr Anne De Leener Centre de Génétique Humaine
14.20-15.00 Inherited colon cancer and other inherited cancer predispositions Dr Anne De Leener Centre de Génétique Humaine INHERITED COLORECTAL CANCER (CRC) Colorectal cancer 5% 1% 10% 84% Sporadic Familial
More informationHereditary Cancer Risk Assessment for Gynecological Cancers. FarrNezhatMD.com
Hereditary Cancer Risk Assessment for Gynecological Cancers FarrNezhatMD.com Image credit: PLOS blogs 5-10% hereditary 10-20% 70-80% sporadic Genetic Changes and Cancer Cancer begins with a genetic
More informationpatient guide CancerNext genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention
patient guide CancerNext genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention Know the Basics Cancer occurs in about 1 in 3 adults in their lifetime types
More informationGenetic Testing for Lynch Syndrome
Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post-test genetic counseling is
More informationExpert Interview: Inherited Susceptibility to Cancer with Dr. Nicoleta Voian
Expert Interview: Inherited Susceptibility to Cancer with Dr. Nicoleta Voian ANNOUNCER OPEN: Welcome to CME on ReachMD. This segment, entitled Inherited Susceptibility to Cancer: What Do Primary Care Providers
More informationThe Role of genetic Testing for Inherited Prostate Cancer Risk
FOIU July 2018 The Role of genetic Testing for Inherited Prostate Cancer Risk Leonard G. Gomella, MD Chairman, Department of Urology Sidney Kimmel Cancer Center Thomas Jefferson University Philadelphia,
More informationGenetic testing all you need to know
Genetic testing all you need to know Sue Clark Consultant Colorectal Surgeon, St Mark s Hospital, London, UK. Colorectal cancer Familial 33% Polyposis syndromes
More informationBe Ready Pack Learn more about how Myriad myrisk is revolutionizing hereditary cancer testing.
Be Ready Pack Learn more about how Myriad myrisk is revolutionizing hereditary cancer testing. Hereditary cancer and you Approximately 5% to 10% of all cancers develop because a person inherited a genetic
More informationPrior Authorization. Additional Information:
Genetic Testing for Cowden Syndrome - PTEN Gene MP9488 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes as shown below Pre and post-test genetic
More informationHereditary Cancer. Genetic Testing Services. The GeneDx Experience
Hereditary Cancer Genetic Testing Services The GeneDx Experience GeneDx: Where Rare is Common In medical school there is a saying, When you hear hoofbeats, think horses not zebras. Think of common causes
More informationFamilial and Hereditary Colon Cancer
Familial and Hereditary Colon Cancer Aasma Shaukat, MD, MPH, FACG, FASGE, FACP GI Section Chief, Minneapolis VAMC Associate Professor, Division of Gastroenterology, Department of Medicine, University of
More informationPrior Authorization. Additional Information:
Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post test genetic counseling is
More informationHereditary Cancer Products
Hereditary Products Integrated BRACAnalysis (BRCA1 and BRCA2 sequencing and large rearrangement testing (BART)), covered when: PERSONAL HISTORY of Breast (must meet at least 1) Diagnosed
More informationSupplemental Information. Whole-Genome Sequencing. of a Healthy Aging Cohort
Cell, Volume 165 Supplemental Information Whole-Genome Sequencing of a Healthy Aging Cohort Galina A. Erikson, Dale L. Bodian, Manuel Rueda, Bhuvan Molparia, Erick R. Scott, Ashley A. Scott-Van Zeeland,
More informationPROVIDER POLICIES & PROCEDURES
PROVIDER POLICIES & PROCEDURES GENETIC CANCER SUSCEPTIBILITY PANELS USING NEXT GENERATION SEQUENCING The purpose of this document is to assist providers enrolled in the Connecticut Medical Assistance Program
More informationOut-Patient Billing CPT Codes
Out-Patient Billing CPT Codes Updated Date: August 3, 08 Client Billed Molecular Tests HPV DNA Tissue Testing 8764 No Medicare Billed - Molecular Tests NeoARRAY NeoARRAY SNP/Cytogenetic No 89 NeoLAB NeoLAB
More informationGenetic Testing: who, what, why?
Genetic Testing: who, what, why? Gina Westhoff MD LMG Gynecologic Oncology March 16, 2019 Disclosures Speaker for Merck (unrelated to today s topic) Objectives Determine who should undergo genetic risk
More informationFamilial and Hereditary Colon Cancer
Familial and Hereditary Colon Cancer Aasma Shaukat, MD, MPH, FACG, FASGE, FACP GI Section Chief, Minneapolis VAMC Associate Professor, Division of Gastroenterology, Department of Medicine, University of
More informationGenetic Testing for Hereditary Cancer Susceptibility Syndromes
Medical Coverage Policy Genetic Testing for Hereditary Cancer Susceptibility Syndromes Table of Contents Effective Date... 1/15/2018 Next Review Date... 7/15/2018 Coverage Policy Number... 0518 Related
More informationInformation for You and Your Family
Information for You and Your Family What is Prevention? Cancer prevention is action taken to lower the chance of getting cancer. In 2017, more than 1.6 million people will be diagnosed with cancer in the
More informationHereditary Gastric Cancer
Hereditary Gastric Cancer Dr Bastiaan de Boer Consultant Pathologist Department of Anatomical Pathology PathWest Laboratory Medicine, QE II Medical Centre Clinical Associate Professor School of Pathology
More informationManagement of higher risk of colorectal cancer. Huw Thomas
Management of higher risk of colorectal cancer Huw Thomas Colorectal Cancer 41,000 new cases pa in UK 16,000 deaths pa 60% 5 year survival Adenoma-carcinoma sequence (Morson) Survival vs stage (Dukes)
More informationChapter 2 Cancer and Genetic Counseling
Chapter 2 Cancer and Genetic Counseling Brandie Heald and James M. Church Introduction All cancer is genetic. Cancer is a disease caused by an accumulation of genetic damage that interferes with the regulation
More informationRisk of Colorectal Cancer (CRC) Hereditary Syndromes in GI Cancer GENETIC MALPRACTICE
Identifying the Patient at Risk for an Inherited Syndrome Sapna Syngal, MD, MPH, FACG Director, Gastroenterology Director, Familial GI Program Dana-Farber/Brigham and Women s Cancer Center Associate Professor
More informationGenetic testing and pancreatic disease
Genetic testing and pancreatic disease February 2 d, 2018 Yale Pancreas Symposium 2018: Multidisciplinary Management of Pancreatic Cancer Xavier Llor, M.D., PhD. Associate Professor of Medicine Co-Director,
More informationManagement of BRCA Positive Breast Cancer. Archana Ganaraj, MD February 17, 2018 UPDATE ON WOMEN S HEALTH
Management of BRCA Positive Breast Cancer Archana Ganaraj, MD February 17, 2018 UPDATE ON WOMEN S HEALTH The number of American women who have lost their lives to breast cancer outstrips the total number
More informationCarol Christianson, MS, CGC Genetic Counselor West Michigan Cancer Center
Carol Christianson, MS, CGC Genetic Counselor West Michigan Cancer Center Following this presentation you will be able to: Identify cancer survivors in your practice who might benefit from genetic counseling
More informationHereditary Cancer Update Strengthening Linkages Workshop April 22, 2017
Hereditary Cancer Update Strengthening Linkages Workshop April 22, 2017 Renée Perrier, MD MSc FRCPC Clinical Assistant Professor University of Calgary, Department of Medical Genetics Medical Director,
More informationMSI positive MSI negative
Pritchard et al. 2014 Supplementary Figure 1 MSI positive MSI negative Hypermutated Median: 673 Average: 659.2 Non-Hypermutated Median: 37.5 Average: 43.6 Supplementary Figure 1: Somatic Mutation Burden
More informationpatient guide BrainTumorNext genetic testing for hereditary brain tumors Because knowing your risk can mean early detection and prevention
patient guide BrainTumorNext genetic testing for hereditary brain tumors Because knowing your risk can mean early detection and prevention Know the Basics Brain tumors are the most common tumor/cancer
More informationGEN ETICS AN D GEN OM ICS IN CANCER PREVENTION AN D TREATM EN T. Robert Nathan Slotnick MD PhD Director, Medical Genetics and Genomics
GEN ETICS AN D GEN OM ICS IN CANCER PREVENTION AN D TREATM EN T Robert Nathan Slotnick MD PhD Director, Medical Genetics and Genomics The Medical/Surgical/Radiation Oncologist s View of Genetics Cancer
More informationGenetic Aspects of Inherited colorectal cancer (CRC)
Genetic Aspects of Inherited colorectal cancer (CRC) New data New insights DNA repair Cancer Hub 3/2014 2004 Service for genetics of GI Cancer Oncology Tamar Peretz A. Hubert L. Kadouri N. Halpern M. Plesser
More informationHereditary Aspects of Pancreatic Cancer
Pancreatic Cancer Seminar San Francisco, CA Hereditary Aspects of Pancreatic Cancer Genetic Risk Assessment and Counseling for Familial Pancreatic Cancer February 3, 2016 Amie Blanco, MS, CGC Gordon and
More informationMEDICAL POLICY Genetic Testing for Breast and Ovarian Cancers
POLICY: PG0067 ORIGINAL EFFECTIVE: 07/30/02 LAST REVIEW: 01/25/18 MEDICAL POLICY Genetic Testing for Breast and Ovarian Cancers GUIDELINES This policy does not certify benefits or authorization of benefits,
More informationObjectives. Genetics in Cancer Treatment and Prevention. Genes
Objectives Genetics in Cancer Treatment and Prevention Cheryl LaFlore, ARNP, MSN, BC Understand how to integrate genetic and genomic information into oncology nursing practice Define the role of an oncology
More informationAssessment and Management of Genetic Predisposition to Breast Cancer. Dr Munaza Ahmed Consultant Clinical Geneticist 2/7/18
Assessment and Management of Genetic Predisposition to Breast Cancer Dr Munaza Ahmed Consultant Clinical Geneticist 2/7/18 Overview The role of the Cancer Genetics team NICE guidelines for Familial Breast
More informationVersus. Cancer genomics Competitive Analysis
Cancer genomics Competitive Analysis Versus AGH Competitor #1 MYRIAD GENETICS, INC. Headquarters: UT, USA & Switzerland Publicly Traded Company - MYGN Founded: 1992 Company Size: 1001-5000 employees (source:
More informationPage 1 of 8 TABLE OF CONTENTS
Page 1 of 8 TABLE OF CONTENTS Patient Evaluation and Recommendation..Page 2 Testing and Follow-up..Page 3 Genetic Counseling Referral Criteria.....Page 4-5 Patient Education..Page 6 Suggested Readings...Page
More informationHereditary Cancer Syndromes
Hereditary Cancer Syndromes Nicoleta Voian, MD, MPH Director Clinical Genetics Service Roswell Park Cancer Institute Nicoleta.Voian@Roswellpark.org February 28, 2017 Common Genetics Terms Gene: A hereditary
More informationMultiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer
www.impactjournals.com/oncotarget/ Oncotarget, Supplementary Materials 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer Supplementary Materials Supplementary
More informationWhy Test for Hereditary Cancer in Preventive Care?
Why Test for Hereditary Cancer in Preventive Care? Millions of people are sidelined by cancer. Wouldn't it be worth it for your patients to know their risk? background HEREDITARY (5-10%) More than 1 in
More informationJennifer Hauenstein Oncology Cytogenetics Emory University Hospital Atlanta, GA
Comparison of Genomic Coverage using Affymetrix OncoScan Array and Illumina TruSight Tumor 170 NGS Panel for Detection of Copy Number Abnormalities in Clinical GBM Specimens Jennifer Hauenstein Oncology
More informationFeasibility of Clinical Trial Implementation Genetically Eligible Prostate Cancer Patients Oliver Sartor, MD Cathryn E, Garvey, MS December 3, 2015
Feasibility of Clinical Trial Implementation Genetically Eligible Prostate Cancer Patients Oliver Sartor, MD Cathryn E, Garvey, MS December 3, 2015 Study Name Feasibility of Patient Population for proposed
More informationHereditary Colorectal Cancer Syndromes Miguel A. Rodriguez-Bigas, MD
Hereditary Colorectal Cancer Syndromes Miguel A. Rodriguez-Bigas, MD Living Beyond Cancer A-Z January 12,2019 Hereditary CRC Syndromes Objectives are to discuss the : Most common Hereditary CRC syndromes
More informationFamily Assessment. Objectives. Comprehensive Family History Important Inexpensive Underutilized genetic tool
Besides the BRCA genes, what else to consider in hereditary breast and ovarian cancer? Laurie M. Connors DNP, APNG, FNP-BC, AGN-BC Objectives Evaluate personal & family history to assess risk for hereditary
More informationPolicy Specific Section: Medical Necessity and Investigational / Experimental. October 14, 1998 March 28, 2014
Medical Policy Genetic Testing for Colorectal Cancer Type: Medical Necessity and Investigational / Experimental Policy Specific Section: Laboratory/Pathology Original Policy Date: Effective Date: October
More informationCOLORECTAL PATHWAY GROUP, MANCHESTER CANCER. Guidelines for the assessment of mismatch. Colorectal Cancer
COLORECTAL PATHWAY GROUP, MANCHESTER CANCER Guidelines for the assessment of mismatch repair (MMR) status in Colorectal Cancer March 2017 1 Background Mismatch repair (MMR) deficiency is seen in approximately
More informationMolecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy.
Molecular Oncology & Pathology Hereditary Cancer Somatic Cancer Liquid Biopsy Next-Gen Sequencing qpcr Sanger Sequencing Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine
More informationContent. Diagnostic approach and clinical management of Lynch Syndrome: guidelines. Terminology. Identification of Lynch Syndrome
of Lynch Syndrome: guidelines 17/03/2009 Content Terminology Lynch Syndrome Presumed Lynch Syndrome Familial Colorectal Cancer Identification of Lynch Syndrome Amsterdam II criteria Revised Bethesda Guidelines
More informationHereditary Non Polyposis Colorectal Cancer(HNPCC) From clinic to genetics
From clinic to genetics Question 1) Clinical pattern of inheritance of the HNPCC-Syndrome? Question 1) Clinical pattern of inheritance of the HNPCC-Syndrome? Autosomal dominant Question 2) Incidence of
More informationOVARIAN GRANULOSA CELL TUMOR IN A PATIENT WITH A PATHOGENIC VARIANT IN THE CDC73 GENE (HYPERPARATHYROIDISM-JAW TUMOR SYNDROME) MD 1
AACE Clinical Case Reports Rapid Electronic Articles in Press Rapid Electronic Articles in Press are preprinted manuscripts that have been reviewed and accepted for publication, but have yet to be edited,
More informationpatient guide RenalNext genetic testing for hereditary kidney cancer Because knowing your risk can mean early detection and prevention
patient guide RenalNext genetic testing for hereditary kidney cancer Because knowing your risk can mean early detection and prevention Know the Basics Risk factors for developing kidney cancer include
More informationAugust 17, Dear Valued Client:
August 7, 08 Re: CMS Announces 6-Month Period of Enforcement Discretion for Laboratory Date of Service Exception Policy Under the Medicare Clinical Laboratory Fee Schedule (the 4 Day Rule ) Dear Valued
More informationACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes Sapna Syngal, MD, MPH, FACG, 1,2,3 Randall E. Brand, MD, FACG, 4 James M. Church, MD, FACG, 5,6,7
More informationA Review from the Genetic Counselor s Perspective
: A Review from the Genetic Counselor s Perspective Erin Sutcliffe, MS, CGC Certified Genetic Counselor Cancer Risk Evaluation Program INTRODUCTION Errors in base pair matching that occur during DNA replication,
More information