Surveillance of Individuals At High Risk For Developing Pancreatic Cancer

Size: px
Start display at page:

Download "Surveillance of Individuals At High Risk For Developing Pancreatic Cancer"

Transcription

1 Surveillance of Individuals At High Risk For Developing Pancreatic Cancer Marco Bruno Erasmus Medical Center, Rotterdam

2 Pancreatic Cancer Facts & figures One of the most fatal malignancies Overall 5-year survival rates < 3% Median survival 6 months Irresectable at diagnosis due to late, nonspecific symptoms and high metastatic potential Poor response to chemo- and radiotherapy Poor 5 year survival rates, even after potentially curative surgical resection

3 Pancreatic Cancer Environmental factors Main risk factor: cigarette smoking 2- to 3-fold elevated risk accounts for 25% all cases dose-response relationship age of onset Less well established: fat, meat, salt exposure to certain chemicals diabetes mellitus, obesity Possibly protective: fresh fruits and vegetables, dietary fiber, vitamin C

4 Hereditary Pancreatic Cancer Genetic factors In about 10 to 15% of pancreatic cancers genetic factors seem to play a prominent role

5 Hereditary Pancreatic Cancer Genetic factors Syndrome Gene Locus Lifetime risk RR FAMMM P16INK4a/ CDKN2A/MTS1 9p % HBOC BRCA2 13q12 5% 10 HBOC BRCA1 17q21?? 2 Hereditary pancreatitis PRSS1/TRY1 7q % 50 HNPCC MMR 2p21-22, 3p21 e.a.???? PJS STK11/LKB1 19p13 36% 136 AT ATM 11q22???? FAP APC 5q21-22?? 4 Li-Fraumeni syndrome p53 17p13???? FPC?? 4q32-34 Up to 50% 18-57

6 Surveillance in Hereditary Pancreatic Cancer Ultimate goal Detection of a precursor lesion before progression towards invasive carcinoma or Detection of an early potentially curable malignancy

7 Pancreatic Cancer (Benign) precursor lesions Stepwise, cumulative pathogenesis; activation K-ras, over-expression Her-2/neu (early), inactivation p16 and p53 (later) Adenoma-carcinoma like sequence with curable, non-invasive precursor lesions: PanIN I-III, IPMN (SB MB type)

8 Carcinogenesis Genetic model adapted from Fearon and Vogelstein

9 Pancreatic Intrapithelial Neoplasia Stages PanIn-1A to PanIn-2 Wendt et al. 2007

10 Pancreatic Intrapithelial Neoplasia Stages PanIn-2 to PanIn-3 Wendt et al. 2007

11 Pancreatic Cancer (Benign) precursor lesions Stepwise, cumulative pathogenesis; activation K-ras, over-expression Her-2/neu (early), inactivation p16 and p53 (later) Adenoma-carcinoma like sequence with curable, non-invasive precursor lesions: PanIN I-III, IPMN (SB MB type) Often multifocal Unknown interval of progression to invasive carcinoma; between 1 and 10 years

12 Imaging in Pancreatic Cancer Potentially promising techniques MRI non-invasive sensitivity 83-87%, specificity % for diagnosing pancreatic cancer no radiation exposure EUS invasive sensitivity 95%, specificity 80% for diagnosing pancreatic cancer effective in the identification of early lesions despite invasiveness, low risk for adverse effects operator-dependent

13 Surveillance in Hereditary Pancreatic Cancer Literature data Prospective controlled study 78 high risk individuals 6 peutz-jeghers patients 72 individuals with 3 or more affected relatives not belonging to p16, herid pancreatitis or HNPCC families 4 patients with known BRCA2 mutation 31 suspected of possibly having BRCA2 mutation based on Ashkenazi Jewish ancestery Yield: 8 patients with neoplastic lesion benign IPMN (n=6) malignant IPMN (n=1) pancreatic intraepithelial neoplasia (n=1) Canto et al. Clin Gastroenterol Hepatol 2006:4;766-81

14 Surveillance in Hereditary Pancreatic Cancer Prospective study Partnership between AMC, AvL, and Erasmus MC Design: multi-centre, prospective, cohort study Aim: to evaluate the feasibility and effectiveness of surveillance for early pancreatic neoplasia in high-risk individuals Methods: one-yearly repeated investigations with EUS and MRI

15 Surveillance in Hereditary Pancreatic Cancer Inclusion criteria I PC prone hereditary syndromes with a cumulative lifetime risk >10% carriers of mutations in CDKN2A, PRSS1 and STK11 genes patients with a clinical diagnosis of Peutz-Jeghers syndrome but without a known gene mutation PC prone hereditary syndromes with an unknown cumulative lifetime risk, or <10% carriers of a germline mutation in BRCA2, BRCA1, MLH1, MSH2, APC or p53 in families with PC at any age in 2 relatives who are (proven, obligate or supposed) carriers of these mutations; with at least one histologically confirmed PC

16 Surveillance in Hereditary Pancreatic Cancer Inclusion criteria II Familial pancreatic cancer (site-specific), i.e. a. 2 first-degree relatives with PC or b. 3 relatives of any degree with PC or c. 2 relatives of any degree with PC, one of whom was aged 50 years or younger at the time of diagnosis; - with at least one histologically confirmed PC in all subcategories and without obvious relation to any currently recognized hereditary syndrome - screening of first degree relatives of family members with PC

17 Surveillance in Hereditary Pancreatic Cancer Prospective study Main outcome parameter: number (percentage) of patients in whom a pancreatic cancer or precursor lesions is detected Secondary outcome parameters (among others) comparison between yield EUS and MRI inter-observer agreement (video recordings) psychological burden of surveillance (long-term) outcome of operated patients In addition: yearly collection of blood and faecal samples for future biomarker studies

18 Surveillance in Hereditary Pancreatic Cancer Prospective study: first results 48 patients included (20 M / 28 F, 51 y 27-75) First time surveillance of asymptomatic individuals 14 FAMMM, 22 familial pancreatic cancer, 3 hereditary pancreatitis, 2 Peutz-Jeghers, 3 BRCA1 and 2 BRCA2 mutation carriers with familial clustering of PC, and 2 p53 mutation Yield: 3 patients (6%) with pancreatic masses (12, 27, 55 mm) sidebranch IPMN-like lesions in 7 patients (15%) [precursor lesions??]

19 Hereditary Pancreatic Cancer Study Case example

20 Hereditary Pancreatic Cancer Study Case example

21 Surveillance in Hereditary Pancreatic Cancer Conclusion & summary EUS is a promising technique for surveillance EUS is able to detect precursor lesions and small carcinoma s With this strategy it may possible to lower the mortality of pancreatic cancer However,

22 Surveillance in Hereditary Pancreatic Cancer Conclusion & summary Many questions remain: risk assessment of pancreatic cancer in various syndromes? which individuals should be surveyed? what is the most optimal (and feasible) surveillance interval? is a non-invasive diagnostic modality (MRI) equally effective in detecting these early lesions? at which time should a resection be performed? is a total pancreatectomy indicated? does early detection change the course of the disease; do patients actually survive and is mortality lowered?

Genetics of Pancreatic Cancer. October 6, If you experience technical difficulty during the presentation:

Genetics of Pancreatic Cancer. October 6, If you experience technical difficulty during the presentation: Genetics of Pancreatic Cancer October 6, 2016 If you experience technical difficulty during the presentation: Contact WebEx Technical Support directly at: US Toll Free: 1-866-229-3239 Toll Only: 1-408-435-7088

More information

Genetic testing and pancreatic disease

Genetic 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 information

Poblacions amb alt risc de càncer de pàncrees. Quin seguiment hem de fer?

Poblacions amb alt risc de càncer de pàncrees. Quin seguiment hem de fer? Poblacions amb alt risc de càncer de pàncrees. Quin seguiment hem de fer? T. Macarulla Hospital Vall d Hebrón Actualització en patologia pancreàtica Societat catalana de pàncrees-scpanc 4 Octubre 2016

More information

Hereditary Aspects of Pancreatic Cancer

Hereditary 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 information

Surveillance in patients with chronic pancreatitis or hereditary risks

Surveillance in patients with chronic pancreatitis or hereditary risks European Digestive Cancer Days 2017 26 th September Prague Surveillance in patients with chronic pancreatitis or hereditary risks J. Rosendahl Universitätsklinik für Innere Medizin I Universitätsklinikum

More information

Evaluation of hereditary syndromes that include pancreatic cancer

Evaluation of hereditary syndromes that include pancreatic cancer Evaluation of hereditary syndromes that include pancreatic cancer UPR CCC 04/12/13 Jeffrey N. Weitzel, M.D. Chief, Division of Clinical Cancer Genetics Cancer Screening & Prevention Program City of Hope

More information

Colonic Polyp. Najmeh Aletaha. MD

Colonic Polyp. Najmeh Aletaha. MD Colonic Polyp Najmeh Aletaha. MD 1 Polyps & classification 2 Colorectal cancer risk factors 3 Pathogenesis 4 Surveillance polyp of the colon refers to a protuberance into the lumen above the surrounding

More information

Primary Care Approach to Genetic Cancer Syndromes

Primary Care Approach to Genetic Cancer Syndromes Primary Care Approach to Genetic Cancer Syndromes Jason M. Goldman, MD, FACP FAU School of Medicine Syndromes Hereditary Breast and Ovarian Cancer (HBOC) Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

More information

Risk Factors and Early Detection Efforts for Pancreatic Cancer

Risk Factors and Early Detection Efforts for Pancreatic Cancer HEADER SLIDE Risk Factors and Early Detection Efforts for Pancreatic Cancer by Jennifer B. Permuth, PhD, MS Assistant Member Departments of Cancer Epidemiology and Gastrointestinal Oncology Moffitt Cancer

More information

HEREDITY & CANCER: Breast cancer as a model

HEREDITY & CANCER: Breast cancer as a model HEREDITY & CANCER: Breast cancer as a model Pierre O. Chappuis, MD Divisions of Oncology and Medical Genetics University Hospitals of Geneva, Switzerland Genetics, Cancer and Heredity Cancers are genetic

More information

Pancreas Cancer Genomics

Pancreas Cancer Genomics Pancreas Cancer Genomics Steven Gallinger MD, MSc, FRCS HPB Surgical Oncology Program University Health Network Samuel Lunenfeld Research Institute Mount Sinai Hospital University of Toronto Fate of the

More information

SMALL BOWEL ADENOCARCINOMA. Dr. C. Jeske

SMALL BOWEL ADENOCARCINOMA. Dr. C. Jeske SMALL BOWEL ADENOCARCINOMA Dr. C. Jeske Case presentation 54 year old female. Presents with OJ and weight loss. Abdominal examination only reveals a palpable gallbladder. ERCP reveals a circumferential

More information

PANCREATIC CANCER RISK PERCEPTION AND WORRY IN FAMILIAL HIGH- RISK PATIENTS UNDERGOING ENDOSCOPIC ULTRASOUND FOR SURVEILLANCE.

PANCREATIC CANCER RISK PERCEPTION AND WORRY IN FAMILIAL HIGH- RISK PATIENTS UNDERGOING ENDOSCOPIC ULTRASOUND FOR SURVEILLANCE. PANCREATIC CANCER RISK PERCEPTION AND WORRY IN FAMILIAL HIGH- RISK PATIENTS UNDERGOING ENDOSCOPIC ULTRASOUND FOR SURVEILLANCE by Erica Lynn Silver BS, Cell and Molecular Biology; California State University

More information

Myriad Financial Assistance Program (MFAP)

Myriad 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 information

Pancreatic Cancer. BIOLOGY: Not well defined (genetic and enviromental factors) CLINICAL PRESENTATION: Abd pain, jaundice, weight loss.

Pancreatic Cancer. BIOLOGY: Not well defined (genetic and enviromental factors) CLINICAL PRESENTATION: Abd pain, jaundice, weight loss. EloreMed Editor: Le Wang, MD, PhD Date of Update: 2/6/2018 UpToDate: Liposomal irinotecan (Onivyde) plus FU/LV is now approved for gemcitabine-refractory metastatic pancreatic cancer and recommended by

More information

Hereditary Gastric Cancer

Hereditary 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 information

Cancer Screenings and Early Diagnostics

Cancer Screenings and Early Diagnostics Cancer Screenings and Early Diagnostics Ankur R. Parikh, D.O. Medical Director, Center for Advanced Individual Medicine Hematologist/Medical Oncologist Atlantic Regional Osteopathic Convention April 6

More information

WELCOME. Taking Care of Your Health. April 30, 8 am to noon

WELCOME. Taking Care of Your Health. April 30, 8 am to noon WELCOME Taking Care of Your Health April 30, 8 am to noon Cancer: Know Your Risk Emily Kuchinsky, MS, CGC, Certified Genetic Counselor Sporadic Cancer Lifetime Probability- Women Family Cluster Risk factors

More information

Assessment 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 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 information

Baxter et al, SEER database

Baxter et al, SEER database Early diagnosis of pancreatic cancer Moderators: Banke Agarwal, MD David Linehan, MD Panelists: Suresh Chari, MD Michael Goggins, MD David Whitcombe, MD Maurits Weirsema, MD Why is early diagnosis desirable

More information

Ovarian Cancer Causes, Risk Factors, and Prevention

Ovarian Cancer Causes, Risk Factors, and Prevention Ovarian Cancer Causes, Risk Factors, and Prevention Risk Factors A risk factor is anything that affects your chance of getting a disease such as cancer. Learn more about the risk factors for ovarian cancer.

More information

Clinical Cancer Genetics

Clinical 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 information

Germline Testing for Hereditary Cancer with Multigene Panel

Germline 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 information

For identification, support and follow up related to Familial Gastrointestinal Cancer conditions. South Island Cancer Nurses Network September 2013

For identification, support and follow up related to Familial Gastrointestinal Cancer conditions. South Island Cancer Nurses Network September 2013 For identification, support and follow up related to Familial Gastrointestinal Cancer conditions South Island Cancer Nurses Network September 2013 Who are we? Specialist multidisciplinary team: Nurse coordinators,

More information

Management A Guideline Based Approach to the Incidental Pancreatic Cysts. Common Cystic Pancreatic Neoplasms.

Management A Guideline Based Approach to the Incidental Pancreatic Cysts. Common Cystic Pancreatic Neoplasms. Management 2016 A Guideline Based Approach to the Incidental Pancreatic Cysts ISMRM 2016 Masoom Haider, MD, FRCP(C) Professor of Radiology, University of Toronto Clinician Scientist, Ontario Institute

More information

LYNCH SYNDROME: HEREDITARY CANCER, PAST AND PRESENT. HENRY T. LYNCH, MD Creighton University School of Medicine Omaha, Nebraska

LYNCH SYNDROME: HEREDITARY CANCER, PAST AND PRESENT. HENRY T. LYNCH, MD Creighton University School of Medicine Omaha, Nebraska LYNCH SYNDROME: HEREDITARY CANCER, PAST AND PRESENT 1 HENRY T. LYNCH, MD Creighton University School of Medicine Omaha, Nebraska Advancing Personalized/Precision Cancer Medicine* Why pursue molecular genetics?:

More information

Cancer Genomics 101. BCCCP 2015 Annual Meeting

Cancer Genomics 101. BCCCP 2015 Annual Meeting Cancer Genomics 101 BCCCP 2015 Annual Meeting Objectives Identify red flags in a person s personal and family medical history that indicate a potential inherited susceptibility to cancer Develop a systematic

More information

GI CANCER SCREENING- Is It Worth It? Sylvia M. Oats, MSN, APRN, ANP-BC Susan H. Miedecke, MSN, APRN, FNP-BC Gastroenterology Clinic of Acadiana

GI CANCER SCREENING- Is It Worth It? Sylvia M. Oats, MSN, APRN, ANP-BC Susan H. Miedecke, MSN, APRN, FNP-BC Gastroenterology Clinic of Acadiana GI CANCER SCREENING- Is It Worth It? Sylvia M. Oats, MSN, APRN, ANP-BC Susan H. Miedecke, MSN, APRN, FNP-BC Gastroenterology Clinic of Acadiana Life is a sexually transmitted disease, and the mortality

More information

7th Annual Symposium on Gastrointestinal Cancers " St. Louis, Mo, 9/20/08

7th Annual Symposium on Gastrointestinal Cancers  St. Louis, Mo, 9/20/08 Molecular markers to aid in early diagnosis of pancreatic cancer Michael Goggins, MD Professor of Pathology, Medicine and Oncology Johns Hopkins Medical Institutions, Baltimore, MD 7th Annual Symposium

More information

Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary?

Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary? May 16, 2016 Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary? Presenter: Emily Kuchinsky, MS, CGC 1 Experiences with Genetic Testing Adverse Events in Cancer Genetic Testing:

More information

GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer

GYNplus: 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 information

COLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014

COLON 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 information

BRCA and Pancreatic Cancer

BRCA and Pancreatic Cancer BRCA and Pancreatic Cancer Mokenge (Mo) P. Malafa, MD Chair, Department of GI Oncology Program Leader, GI Tumor Program Head, Pancreatic Tumor Section Moffitt Cancer Center Tampa, Florida Objectives What

More information

Familial and Hereditary Colon Cancer

Familial 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 information

Risk Assessment and Risk Management

Risk Assessment and Risk Management Risk Assessment and Risk Management Epworth Benign Breast Disease Symposium Dr Laura Chin-Lenn 12 November 2016 Why identify those at increased risk of breast cancer? Should I be worried? 1 Why identify

More information

Development of Carcinoma Pathways

Development of Carcinoma Pathways The Construction of Genetic Pathway to Colorectal Cancer Moriah Wright, MD Clinical Fellow in Colorectal Surgery Creighton University School of Medicine Management of Colon and Diseases February 23, 2019

More information

How does pancreatic cancer develop? Imlications for treatment

How does pancreatic cancer develop? Imlications for treatment How does pancreatic cancer develop? Imlications for treatment Roland M. Schmid II. Medizinische Klinik, Klinikum rechts der Isar Technische Universität München FALK Symposium 150, October 3 4, 2005 Berlin

More information

Family history of pancreatic cancer

Family history of pancreatic cancer Family history of pancreatic cancer _ This fact sheet is for people who want to find out about the hereditary risk of pancreatic cancer. You can speak to our specialist nurses on our Support Line about

More information

GHUK BowelGene_2017.qxp_Layout 1 22/02/ :22 Page 3 BowelGene

GHUK BowelGene_2017.qxp_Layout 1 22/02/ :22 Page 3 BowelGene GHUK BowelGene_2017.qxp_Layout 1 22/02/2017 10:22 Page 3 BowelGene BowelGene What is hereditary bowel cancer? Bowel cancer (also known as colorectal cancer) is the fourth most common cancer in the UK.

More information

Hepatobiliary and Pancreatic Malignancies

Hepatobiliary and Pancreatic Malignancies Hepatobiliary and Pancreatic Malignancies Gareth Eeson MD MSc FRCSC Surgical Oncologist and General Surgeon Kelowna General Hospital Interior Health Consultant, Surgical Oncology BC Cancer Agency Centre

More information

Pancreatic intraepithelial

Pancreatic intraepithelial Pancreatic intraepithelial neoplasia (PanIN) Markéta Hermanová St. Anne s University Hospital Brno Faculty of Medicine, Masaryk University Precursor lesions of invasive pancreatic cancer Pancreatic intraepithelial

More information

GENETICS OF COLORECTAL CANCER: HEREDITARY ASPECTS By. Magnitude of the Problem. Magnitude of the Problem. Cardinal Features of Lynch Syndrome

GENETICS OF COLORECTAL CANCER: HEREDITARY ASPECTS By. Magnitude of the Problem. Magnitude of the Problem. Cardinal Features of Lynch Syndrome GENETICS OF COLORECTAL CANCER: HEREDITARY ASPECTS By HENRY T. LYNCH, M.D. 1 Could this be hereditary Colon Cancer 4 Creighton University School of Medicine Omaha, Nebraska Magnitude of the Problem Annual

More information

Be 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. 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 information

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

ACG 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 information

Epidemiology and genetics of pancreatic cancer

Epidemiology and genetics of pancreatic cancer 1 Epidemiology and genetics of pancreatic cancer Srinivasa K. R. Prasad and Rong Zeng Introduction Pancreatic ductal adenocarcinoma (and its histological variants), also referred to as pancreatic cancer

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

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.

WHAT 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 information

WHAT DO GENES HAVE TO DO WITH IT? Breast Cancer Risk Assessment and Risk Reduction in 2016

WHAT DO GENES HAVE TO DO WITH IT? Breast Cancer Risk Assessment and Risk Reduction in 2016 WHAT DO GENES HAVE TO DO WITH IT? Breast Cancer Risk Assessment and Risk Reduction in 2016 39 th Annual CANP Educational Conference March 17 20, 2016 Collaborate. Educate. Advocate. Karen Herold, DNP,

More information

What All of Us Should Know About Cancer and Genetics

What All of Us Should Know About Cancer and Genetics What All of Us Should Know About Cancer and Genetics Beth A. Pletcher, MD, FAAP, FACMG Associate Professor of Pediatrics UMDNJ- New Jersey Medical School Disclosures I have no relevant financial relationships

More information

B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, BRAF testing, for hereditary colorectal cancer, 696

B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, BRAF testing, for hereditary colorectal cancer, 696 Index Note: Page numbers of article titles are in boldface type. A Adenomatous polyposis, familial. See Familial adenomatous polyposis. Anal anastomosis, ileal-pouch, proctocolectomy with, in FAP, 591

More information

The Next Generation of Hereditary Cancer Testing

The 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 information

Hereditary Breast and Ovarian Cancer Rebecca Sutphen, MD, FACMG

Hereditary Breast and Ovarian Cancer Rebecca Sutphen, MD, FACMG Hereditary Breast and Ovarian Cancer 2015 Rebecca Sutphen, MD, FACMG Among a consecutive series of 11,159 women requesting BRCA testing over one year, 3874 responded to a mailed survey. Most respondents

More information

Content. Diagnostic approach and clinical management of Lynch Syndrome: guidelines. Terminology. Identification of Lynch Syndrome

Content. 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 information

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.

WHAT 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 information

BRCAplus. genetic testing for hereditary breast cancer

BRCAplus. 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 information

CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION

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 information

The silence of the genes: clinical applications of (colorectal) cancer epigenetics

The silence of the genes: clinical applications of (colorectal) cancer epigenetics The silence of the genes: clinical applications of (colorectal) cancer epigenetics Manon van Engeland, PhD Dept. of Pathology GROW - School for Oncology & Developmental Biology Maastricht University Medical

More information

Mr Chris Wakeman. General Surgeon University of Otago, Christchurch. 12:15-12:40 Management of Colorectal Cancer

Mr Chris Wakeman. General Surgeon University of Otago, Christchurch. 12:15-12:40 Management of Colorectal Cancer Mr Chris Wakeman General Surgeon University of Otago, Christchurch 12:15-12:40 Management of Colorectal Cancer Bowel cancer Chris Wakeman Colorectal Surgeon Christchurch Sam Simon (Simpsons) Elizabeth

More information

Familial and Hereditary Colon Cancer

Familial 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 information

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

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 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 information

Colonic polyps and colon cancer. Andrew Macpherson Director of Gastroentology University of Bern

Colonic polyps and colon cancer. Andrew Macpherson Director of Gastroentology University of Bern Colonic polyps and colon cancer Andrew Macpherson Director of Gastroentology University of Bern Improtance of the problem of colon cancers - Epidemiology Lifetime risk 5% Incidence/10 5 /annum (US Detroit

More information

Hereditary Cancer Update Strengthening Linkages Workshop April 22, 2017

Hereditary 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 information

Hereditary Cancer Products

Hereditary 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 information

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016 Oncology Service Line-Allina Health System-wide Consensus Guidelines: Identification of Breast Cancer Patients at Risk for Inherited Cancer Risks These guidelines apply to clinical interventions that have

More information

Genetic Testing: who, what, why?

Genetic 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 information

PANCREAS DUCTAL ADENOCARCINOMA PDAC

PANCREAS DUCTAL ADENOCARCINOMA PDAC CONTENTS PANCREAS DUCTAL ADENOCARCINOMA PDAC I. What is the pancreas? II. III. IV. What is pancreas cancer? What is the epidemiology of Pancreatic Ductal Adenocarcinoma (PDAC)? What are the risk factors

More information

Genetic 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 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 information

So, now, that we have reviewed some basics of cancer genetics I will provide an overview of some common syndromes.

So, now, that we have reviewed some basics of cancer genetics I will provide an overview of some common syndromes. Hello. My name is Maureen Mork and I m a Certified Genetic Counselor in the Clinical Cancer Genetics Program at The University of Texas MD Anderson Cancer Center. I ll be lecturing today on the Cancer

More information

Jill Stopfer, MS, CGC Abramson Cancer Center University of Pennsylvania

Jill Stopfer, MS, CGC Abramson Cancer Center University of Pennsylvania Jill Stopfer, MS, CGC Abramson Cancer Center University of Pennsylvania Aging Family history Early menarche Late menopause Nulliparity Estrogen / Progesterone use after menopause More than two alcoholic

More information

Multistep nature of cancer development. Cancer genes

Multistep nature of cancer development. Cancer genes Multistep nature of cancer development Phenotypic progression loss of control over cell growth/death (neoplasm) invasiveness (carcinoma) distal spread (metastatic tumor) Genetic progression multiple genetic

More information

AllinaHealthSystems 1

AllinaHealthSystems 1 Overview Biology and Introduction to the Genetics of Cancer Denise Jones, MS, CGC Certified Genetic Counselor Virginia Piper Cancer Service Line I. Our understanding of cancer the historical perspective

More information

removal of adenomatous polyps detects important effectively as follow-up colonoscopy after both constitute a low-risk Patients with 1 or 2

removal of adenomatous polyps detects important effectively as follow-up colonoscopy after both constitute a low-risk Patients with 1 or 2 Supplementary Table 1. Study Characteristics Author, yr Design Winawer et al., 6 1993 National Polyp Study Jorgensen et al., 9 1995 Funen Adenoma Follow-up Study USA Multi-center, RCT for timing of surveillance

More information

2018 National Academy of Medicine Annual Meeting

2018 National Academy of Medicine Annual Meeting 2018 National Academy of Medicine Annual Meeting October 15, 2018 Targeting Cancer with Precision Prevention Ernest Hawk, M.D., M.P.H. What is Precision Prevention? The concept of precision medicine prevention

More information

Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation.

Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation. Allina Breast Program Committee Consensus Guidelines These guidelines apply to clinical interventions that have well-documented outcomes, but whose outcomes are not clearly desirable to all patients Identification

More information

Colorectal Neoplasia. Dr. Smita Devani MBChB, MRCP. Consultant Physician and Gastroenterologist Aga Khan University Hospital, Nairobi

Colorectal Neoplasia. Dr. Smita Devani MBChB, MRCP. Consultant Physician and Gastroenterologist Aga Khan University Hospital, Nairobi Colorectal Neoplasia Dr. Smita Devani MBChB, MRCP Consultant Physician and Gastroenterologist Aga Khan University Hospital, Nairobi Case History BT, 69yr male Caucasian History of rectal bleeding No change

More information

Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR

Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR ORIGINAL ARTICLE CLINICAL PRACTICE MANAGEMENT Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR Debra L. Monticciolo, MD a, Mary S. Newell, MD b, Linda Moy, MD

More information

Razvan I. Arsenescu, MD Assistant Professor of Medicine Division of Digestive Diseases EARLY DETECTION OF COLORECTAL CANCER

Razvan I. Arsenescu, MD Assistant Professor of Medicine Division of Digestive Diseases EARLY DETECTION OF COLORECTAL CANCER Razvan I. Arsenescu, MD Assistant Professor of Medicine Division of Digestive Diseases EARLY DETECTION OF COLORECTAL CANCER Epidemiology of CRC Colorectal cancer (CRC) is a common and lethal disease Environmental

More information

BowelGene. How do I know if I am at risk? Families with hereditary bowel cancer generally show one or more of the following clues:

BowelGene. How do I know if I am at risk? Families with hereditary bowel cancer generally show one or more of the following clues: BowelGene BowelGene What is hereditary bowel cancer? Bowel cancer (also known as colorectal cancer) is the fourth most common cancer in the UK. Unfortunately 1 in 19 women and 1 in 14 men will develop

More information

EARLY DETECTION OF COLORECTAL CANCER. Epidemiology of CRC

EARLY DETECTION OF COLORECTAL CANCER. Epidemiology of CRC Razvan I. Arsenescu, MD Assistant Professor of Medicine Division of Digestive Diseases EARLY DETECTION OF COLORECTAL CANCER Epidemiology of CRC Colorectal cancer (CRC) is a common and lethal disease Environmental

More information

Medical Policy Update

Medical Policy Update Medical Policy Update Summer 2017 Highlights of recent medical policy revisions as well as any new medical policies approved by Prevea360 Health Plan s Medical Policy Committee are shown below. The Medical

More information

ACG Clinical Guideline: Diagnosis and Management of Pancreatic Cysts

ACG Clinical Guideline: Diagnosis and Management of Pancreatic Cysts ACG Clinical Guideline: Diagnosis and Management of Pancreatic Cysts Grace H. Elta, MD, FACG 1, Brintha K. Enestvedt, MD, MBA 2, Bryan G. Sauer, MD, MSc, FACG (GRADE Methodologist) 3 and Anne Marie Lennon,

More information

10/21/ New Release, Quest Diagnostics Nichols Institute, Valencia

10/21/ New Release, Quest Diagnostics Nichols Institute, Valencia NEW TESTS Please Note: Not all test codes assigned to each assay are listed in the table of contents. Please refer to the complete listing on the page numbers indicated. Test Code Test Name Effective Date

More information

GYNplus. genetic testing for hereditary ovarian and/or uterine cancer

GYNplus. 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 information

GENETIC MANAGEMENT OF A FAMILY HISTORY OF BREAST AND / OR OVARIAN CANCER. Dr Abhijit Dixit. Family Health Clinical Genetics

GENETIC MANAGEMENT OF A FAMILY HISTORY OF BREAST AND / OR OVARIAN CANCER. Dr Abhijit Dixit. Family Health Clinical Genetics GENETIC MANAGEMENT OF A FAMILY HISTORY OF BREAST AND / OR OVARIAN CANCER Full Title of Guideline: Author (include email and role): Division & Speciality: Scope (Target audience, state if Trust wide): Review

More information

Hereditary Cancer Update: What do GPOs need to know?

Hereditary 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 information

Combatting Pancreatic Cancer: Keys to Early Recognition and Diagnosis

Combatting Pancreatic Cancer: Keys to Early Recognition and Diagnosis Transcript Details This is a transcript of an educational program accessible on the ReachMD network. Details about the program and additional media formats for the program are accessible by visiting: https://reachmd.com/programs/clinicians-roundtable/combatting-pancreatic-cancer-keys-earlyrecognition-and-diagnosis/7286/

More information

patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention

patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention Know the Basics Risk factors for developing pancreatic cancer

More information

The incidence of pancreatic cancer is rising in India and is higher in the urban male population in the western and northern parts of India.

The incidence of pancreatic cancer is rising in India and is higher in the urban male population in the western and northern parts of India. Published on: 9 Jun 2015 Pancreatic Cancer What Is Cancer? The body is made up of cells, which grow and die in a controlled way. Sometimes, cells keep on growing without control, causing an abnormal growth

More information

Pancreatic Cysts. Darius C. Desai, MD FACS St. Luke s University Health Network

Pancreatic Cysts. Darius C. Desai, MD FACS St. Luke s University Health Network Pancreatic Cysts Darius C. Desai, MD FACS St. Luke s University Health Network None Disclosures Incidence Widespread use of cross sectional imaging Seen in over 2% of patients having abdominal imaging

More information

Germline Genetic Testing for Breast Cancer Risk

Germline Genetic Testing for Breast Cancer Risk Kathmandu, Bir Hospital visit, August 2018 Germline Genetic Testing for Breast Cancer Risk Evidence-based Genetic Screening Rodney J. Scott Demography in New South Wales (total population ~ 7,000,000)

More information

Information for You and Your Family

Information 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 information

Proactive Patient Paves the Way for Genetic Testing of Eight Family Members

Proactive Patient Paves the Way for Genetic Testing of Eight Family Members CASE STUDY Proactive Patient Paves the Way for Genetic Testing of Eight Family Members Quick Summary Samar Mohite * was diagnosed with colon adenocarcinoma at the age of 49 years. Genetic counselling was

More information

Update on Hereditary Gastric Cancer. Dr. Savtaj Brar MD MSc Surgical Oncologist Assistant Professor of Surgery

Update on Hereditary Gastric Cancer. Dr. Savtaj Brar MD MSc Surgical Oncologist Assistant Professor of Surgery Update on Hereditary Gastric Cancer Dr. Savtaj Brar MD MSc Surgical Oncologist Assistant Professor of Surgery Disclosures None Outline 1. Discuss new consensus guidelines on hereditary diffuse gastric

More information

GI Polyp syndromes in children. Screening and surveillance, surgery.

GI Polyp syndromes in children. Screening and surveillance, surgery. Dr Warren Hyer Consultant Paediatric Gastroenterologist St Mark s Hospital, UK GI Polyp syndromes in children Screening and surveillance, surgery. No conflict of interests to declare Objectives Understand

More information

LIST OF ABBREVIATIONS

LIST OF ABBREVIATIONS Gastroenter oenterology 2005 Royal College of Physicians of Edinburgh Screening and surveillance for upper and lower gastrointestinal cancer JN Plevris Consultant Gastroenterologist and Honorary Senior

More information

Genetic Risk Assessment for Cancer

Genetic 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 information

Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes

Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes Genetic Testing for Lynch Syndrome and Other Inherited Colon Cancer Syndromes Policy Number: 2.04.08 Last Review: 1/2019 Origination: 1/2004 Next Review: 1/2020 Policy Blue Cross and Blue Shield of Kansas

More information

GI EMERGENCIES Acute Abdominal Pain

GI EMERGENCIES Acute Abdominal Pain GI EMERGENCIES Acute Abdominal Pain Marcia Cruz-Correa, MD, PhD, AGAF. FASGE Associate Professor of Medicine, Biochemistry, Surgery Director Translational Research University of Puerto Rico Comprehensive

More information

Familial Adenomatous Polyposis

Familial Adenomatous Polyposis Familial Adenomatous Polyposis 1 in 10,000 incidence 100 s to 1000 s of colonic adenomas by teens Cancer risk: colon, gastric, duodenum (periampulla), small bowel, pancreas, papillary thyroid, childhood

More information