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

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

(2014) Francis M Giardiello et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers

(2014) Karen H. Lu et al.   JOURNAL OF CLINICAL ONCOLOGY

Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

(2013) Aung Ko Win et al.   ANNALS OF SURGICAL ONCOLOGY

Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives

(2013) Yark Hazewinkel et al.   Familial Cancer

The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis

(2013) Maria Lopez-Ceron et al.   GASTROINTESTINAL ENDOSCOPY

Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome

(2013) Victoria M. Raymond et al.   JOURNAL OF CLINICAL ONCOLOGY

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

Long-Term Colorectal-Cancer Incidence and Mortality after Lower Endoscopy

(2013) Reiko Nishihara et al.   NEW ENGLAND JOURNAL OF MEDICINE

International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas

(2013) Masao Tanaka et al.   PANCREATOLOGY

Editorial: Serrated Polyposis: The Last (or Only the Latest?) Frontier of Familial Polyposis?

(2012) Stephen J Lanspa et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Cancer Risks for Relatives of Patients With Serrated Polyposis

(2012) Aung Ko Win et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Alcohol and Tobacco Lower the Age of Presentation in Sporadic Pancreatic Cancer in a Dose-Dependent Manner: A Multicenter Study

(2012) Michelle A Anderson et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Serrated Lesions of the Colorectum: Review and Recommendations From an Expert Panel

(2012) Douglas K Rex et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Phenotype and Polyp Landscape in Serrated Polyposis Syndrome

(2012) Christophe Rosty et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Multiplicity and Molecular Heterogeneity of Colorectal Carcinomas in Individuals With Serrated Polyposis

(2012) Christophe Rosty et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

(2012) M.-H. Tan et al.   CLINICAL CANCER RESEARCH

Impact of gynecological screening in Lynch syndrome carriers with anMSH2mutation

(2012) S Stuckless et al.   CLINICAL GENETICS

Quality of Life After Surgery for Colon Cancer in Patients With Lynch Syndrome

(2012) Jasmijn F. Haanstra et al.   DISEASES OF THE COLON & RECTUM

Juvenile Polyposis Syndrome

(2012) Andrew R. Latchford et al.   DISEASES OF THE COLON & RECTUM

Serrated polyposis

(2012) Susana Oquiñena et al.   EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review

(2012) A. P. Knopperts et al.   Familial Cancer

Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis

(2012) Y. A. Alderlieste et al.   Familial Cancer

Frequent Detection of Pancreatic Lesions in Asymptomatic High-Risk Individuals

(2012) Marcia Irene Canto et al.   GASTROENTEROLOGY

High prevalence of serrated polyposis syndrome in FIT-based colorectal cancer screening programmes: Table 1

(2012) Leticia Moreira et al.   GUT

High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme: Table 1

(2012) Sujata Biswas et al.   GUT

International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer

(2012) Marcia Irene Canto et al.   GUT

Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study

(2012) Aung Ko Win et al.   JOURNAL OF CLINICAL ONCOLOGY

Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

(2012) Christoph Engel et al.   JOURNAL OF CLINICAL ONCOLOGY

CDKN2Ais the main susceptibility gene in Italian pancreatic cancer families

(2012) Paola Ghiorzo et al.   JOURNAL OF MEDICAL GENETICS

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance

(2012) Susanne E Korsse et al.   JOURNAL OF MEDICAL GENETICS

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

(2012) John C Mathers et al.   LANCET ONCOLOGY

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Familial pancreatic cancer—current knowledge

(2012) Detlef K. Bartsch et al.   Nature Reviews Gastroenterology & Hepatology

Should patients with Cowden syndrome undergo prophylactic thyroidectomy?

(2012) Mira Milas et al.   SURGERY

Feasibility and Yield of Screening in Relatives From Familial Pancreatic Cancer Families

(2011) Emmy Ludwig et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Impact of colonoscopic screening in male and female Lynch syndrome carriers with anMSH2mutation

(2011) S Stuckless et al.   CLINICAL GENETICS

The Evolution of Prophylactic Colorectal Surgery for Familial Adenomatous Polyposis

(2011) Andre da Luz Moreira et al.   DISEASES OF THE COLON & RECTUM

Genotype Predicting Phenotype in Familial Adenomatous Polyposis: A Practical Application to the Choice of Surgery

(2011) Marry H. Nieuwenhuis et al.   DISEASES OF THE COLON & RECTUM

Rectum-Sparing Surgery May be Appropriate for Biallelic MutYH-Associated Polyposis

(2011) Riccardo Nascimbeni et al.   DISEASES OF THE COLON & RECTUM

Peutz-Jeghers Syndrome: Intriguing Suggestion of Gastrointestinal Cancer Prevention From Surveillance

(2011) A. R. Latchford et al.   DISEASES OF THE COLON & RECTUM

Defining Phenotypes and Cancer Risk in Hyperplastic Polyposis Syndrome

(2011) Matthew F. Kalady et al.   DISEASES OF THE COLON & RECTUM

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

(2011) Femme Harinck et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Management of duodenal adenomatosis in FAP: single centre experience

(2011) Musa Drini et al.   Familial Cancer

A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families

(2011) Kathleen Y. Yang et al.   Familial Cancer

German national case collection for familial pancreatic cancer (FaPaCa): ten years experience

(2011) Ralph Schneider et al.   Familial Cancer

Smoking Increases the Risk for Colorectal Adenomas in Patients With Lynch Syndrome

(2011) Renate M. Winkels et al.   GASTROENTEROLOGY

Hyperplastic polyposis syndrome and the risk of colorectal cancer: Table 1

(2011) Janina Orlowska   GUT

Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review

(2011) Joshua W. Trufant et al.   HUMAN PATHOLOGY

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

(2011) John Burn et al.   LANCET

Colonic Polyposis and Neoplasia in Cowden Syndrome

(2011) Peter P. Stanich et al.   MAYO CLINIC PROCEEDINGS

ATM Mutations in Patients with Hereditary Pancreatic Cancer

(2011) Nicholas J. Roberts et al.   Cancer Discovery

Hyperplastic Polyposis Syndrome Is Associated With Cigarette Smoking, Which May Be a Modifiable Risk Factor

(2010) R Griff Walker et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

High Cumulative Risk of Intussusception in Patients With Peutz–Jeghers Syndrome: Time to Update Surveillance Guidelines?

(2010) M G F van Lier et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations

(2010) M G F van Lier et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

A Prospective Study of MR Enterography Versus Capsule Endoscopy for the Surveillance of Adult Patients With Peutz-Jeghers Syndrome

(2010) Arun Gupta et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Screening for Thyroid Cancer in Patients With Familial Adenomatous Polyposis

(2010) Awad M. Jarrar et al.   ANNALS OF SURGERY

Absence of germline BRCA1 mutations in familial pancreatic cancer patients

(2010) Jennifer E. Axilbund et al.   CANCER BIOLOGY & THERAPY

Coherence and Completeness of Population-based Family Cancer Reports

(2010) L. Wideroff et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Health Benefits and Cost-Effectiveness of Primary Genetic Screening for Lynch Syndrome in the General Population

(2010) T. A. Dinh et al.   Cancer Prevention Research

Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome

(2010) Daniel L. Edelstein et al.   Clinical Gastroenterology and Hepatology

The Cowden syndrome: a clinical and genetic study in 21 patients

(2010) Th. M. Starink et al.   CLINICAL GENETICS

MUTYH-associated polyposis (MAP)

(2010) Maartje Nielsen et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome

(2010) J.-C. Saurin et al.   ENDOSCOPY

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling

(2010) Robert R McWilliams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

(2010) Daniel C. Gibbons et al.   Familial Cancer

Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality

(2010) Y. Nancy You et al.   Familial Cancer

Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers

(2010) Brandie Heald et al.   GASTROENTEROLOGY

One to 2-Year Surveillance Intervals Reduce Risk of Colorectal Cancer in Families With Lynch Syndrome

(2010) Hans F.A. Vasen et al.   GASTROENTEROLOGY

Hereditary and Familial Colon Cancer

(2010) Kory W. Jasperson et al.   GASTROENTEROLOGY

Hereditary Pancreatic Cancer

(2010) Shilpa Grover et al.   GASTROENTEROLOGY

Magnetic Resonance Imaging Surveillance Detects Early-Stage Pancreatic Cancer in Carriers of a p16-Leiden Mutation

(2010) Hans F.A. Vasen et al.   GASTROENTEROLOGY

Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey

(2010) Maren T Scheuner et al.   GENETICS IN MEDICINE

Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

(2010) K. S. Boparai et al.   GUT

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

(2010) S. Parry et al.   GUT

Peutz-Jeghers syndrome: a systematic review and recommendations for management

(2010) A. D. Beggs et al.   GUT

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis

(2010) D. Calva-Cerqueira et al.   HUMAN MOLECULAR GENETICS

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

(2010) Daniel D. Buchanan et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Body Mass Index Increases Risk of Colorectal Adenomas in Men With Lynch Syndrome: The GEOLynch Cohort Study

(2010) Akke Botma et al.   JOURNAL OF CLINICAL ONCOLOGY

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility

(2010) Mark E. Robson et al.   JOURNAL OF CLINICAL ONCOLOGY

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

(2010) R. S. van der Post et al.   JOURNAL OF MEDICAL GENETICS

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

(2010) M. Nielsen et al.   JNCI-Journal of the National Cancer Institute

Importance of Age of Onset in Pancreatic Cancer Kindreds

(2010) K. A. Brune et al.   JNCI-Journal of the National Cancer Institute

Hyperplastic polyposis syndrome and risk of colorectal cancer

(2010) Joanne P. Young et al.   Nature Reviews Gastroenterology & Hepatology

Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy

(2009) Fay Kastrinos et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

The Yield of First-Time Endoscopic Ultrasonography in Screening Individuals at a High Risk of Developing Pancreatic Cancer

(2009) J W Poley et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Hamartomatous polyposis syndromes

(2009) Amanda Gammon et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

Absence of Deleterious Palladin Mutations in Patients with Familial Pancreatic Cancer

(2009) A. P. Klein et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Germ-Line Mutations in Mismatch Repair Genes Associated with Prostate Cancer

(2009) E. M. Grindedal et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Pancreatic Cancer Patients Who Smoke and Drink Are Diagnosed at Younger Ages

(2009) Randall E. Brand et al.   Clinical Gastroenterology and Hepatology

Features of Duodenal Cancer in Patients With Familial Adenomatous Polyposis

(2009) Andrew R. Latchford et al.   Clinical Gastroenterology and Hepatology

Efficacy of Annual Colonoscopic Surveillance in Individuals With Hereditary Nonpolyposis Colorectal Cancer

(2009) Christoph Engel et al.   Clinical Gastroenterology and Hepatology

APCorMUTYHmutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas

(2009) B Filipe et al.   CLINICAL GENETICS

Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

(2009) E Barrow et al.   CLINICAL GENETICS

Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome

(2009) Lotte H. M. Gerritzen et al.   Familial Cancer

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

(2009) Stefanie Vogt et al.   GASTROENTEROLOGY

A Perspective on Bi-allelic MUTYH Mutations in Patients With Hyperplastic Polyposis Syndrome

(2009) Daniel Buchanan et al.   GASTROENTEROLOGY

Risk and Epidemiological Time Trends of Gastric Cancer in Lynch Syndrome Carriers in The Netherlands

(2009) Lisette G. Capelle et al.   GASTROENTEROLOGY

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

(2009)   GENETICS IN MEDICINE

Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study

(2009) K. S. Boparai et al.   GUT

Risk of Pancreatic Cancer in Families With Lynch Syndrome

(2009) Fay Kastrinos   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members

(2009) Heikki J. Järvinen et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

(2009) Steven J. Lubbe et al.   JOURNAL OF CLINICAL ONCOLOGY

Prevalence of Adenomas and Carcinomas in the Ileal Pouch After Proctocolectomy in Patients with Familial Adenomatous Polyposis

(2009) Masahiro Tajika et al.   JOURNAL OF GASTROINTESTINAL SURGERY

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

(2009) M. E. Faughnan et al.   JOURNAL OF MEDICAL GENETICS

Selection criteria for genetic assessment of patients with familial melanoma

(2009) Sancy A. Leachman et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

(2009) Laura Baglietto et al.   JNCI-Journal of the National Cancer Institute

A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis

(2009) Khalid Al-Thihli et al.   Nature Reviews Gastroenterology & Hepatology

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

(2008) Janice S. Kwon et al.   CANCER

Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States

(2008) F. Kastrinos et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Suppression of Peutz-Jeghers Polyposis by Targeting Mammalian Target of Rapamycin Signaling

(2008) C. Wei et al.   CLINICAL CANCER RESEARCH

Risk of Developing Adenomas and Carcinomas in the Ileal Pouch in Patients With Familial Adenomatous Polyposis

(2008) Pieter Friederich et al.   Clinical Gastroenterology and Hepatology

Fundic Gland Polyp Dysplasia Is Common in Familial Adenomatous Polyposis

(2008) Laura K. Bianchi et al.   Clinical Gastroenterology and Hepatology

Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer

(2008) T. Myrhøj et al.   Familial Cancer

Family history is a significant risk factor for pancreatic cancer: results from a systematic review and meta-analysis

(2008) Jennifer Permuth-Wey et al.   Familial Cancer

Hyperplastic Polyps and Sessile Serrated Adenomas as a Phenotypic Expression of MYH-Associated Polyposis

(2008) Karam S. Boparai et al.   GASTROENTEROLOGY

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

(2008) Maartje Nielsen et al.   GASTROENTEROLOGY

Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study

(2008) Sean P. Cleary et al.   GASTROENTEROLOGY

Guidelines for the clinical management of familial adenomatous polyposis (FAP)

(2008) H. F. A. Vasen et al.   GUT

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

(2008) W. A. van Hattem et al.   GUT

The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome

(2008) Patrice Watson et al.   INTERNATIONAL JOURNAL OF CANCER

Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study

(2008) F LÉCURU et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY

Rectal and Pouch Recurrences After Surgical Treatment for Familial Adenomatous Polyposis

(2008) Fabio Guilherme Campos et al.   JOURNAL OF GASTROINTESTINAL SURGERY

Cowden Syndrome: A Critical Review of the Clinical Literature

(2008) Robert Pilarski   Journal of Genetic Counseling

The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families

(2008) C. D. South et al.   JNCI-Journal of the National Cancer Institute

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS

Hamartomatous Polyposis Syndromes

(2008) Daniel Calva et al.   SURGICAL CLINICS OF NORTH AMERICA

GRADE: an emerging consensus on rating quality of evidence and strength of recommendations

(2008) Gordon H Guyatt et al.   BMJ-British Medical Journal

American Founder Mutation for Attenuated Familial Adenomatous Polyposis

(2007) Deborah W. Neklason et al.   Clinical Gastroenterology and Hepatology

Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis

(2007) Gaetano Iaquinto et al.   GASTROINTESTINAL ENDOSCOPY