Literature DB >> 28786406

Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.

Priyanka Kanth1, Jade Grimmett2,3, Marjan Champine2,3, Randall Burt1,2,4, N Jewel Samadder1,2,5.   

Abstract

Colorectal cancer (CRC) is the fourth most common cancer amongst men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and several hamartomatous polyposis conditions. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This narrative review examines the hereditary colorectal cancer and polyposis syndromes, their genetic basis, clinical management, and evidence supporting cancer screening.

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Year:  2017        PMID: 28786406     DOI: 10.1038/ajg.2017.212

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  175 in total

1.  Risk of duodenal cancer in patients with familial adenomatous polyposis.

Authors:  G Biasco; M A Pantaleo; G Di Febo; C Calabrese; G Brandi; S Bülow
Journal:  Gut       Date:  2004-10       Impact factor: 23.059

Review 2.  American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome.

Authors:  Joel H Rubenstein; Robert Enns; Joel Heidelbaugh; Alan Barkun
Journal:  Gastroenterology       Date:  2015-07-27       Impact factor: 22.682

3.  Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance.

Authors:  Yark Hazewinkel; Kristien M A J Tytgat; Susanne van Eeden; Barbara Bastiaansen; Pieter J Tanis; Karam S Boparai; Paul Fockens; Evelien Dekker
Journal:  Gastroenterology       Date:  2014-03-20       Impact factor: 22.682

4.  Serrated lesions of the colorectum: review and recommendations from an expert panel.

Authors:  Douglas K Rex; Dennis J Ahnen; John A Baron; Kenneth P Batts; Carol A Burke; Randall W Burt; John R Goldblum; José G Guillem; Charles J Kahi; Matthew F Kalady; Michael J O'Brien; Robert D Odze; Shuji Ogino; Susan Parry; Dale C Snover; Emina Emilia Torlakovic; Paul E Wise; Joanne Young; James Church
Journal:  Am J Gastroenterol       Date:  2012-06-19       Impact factor: 10.864

5.  Cancer risks for relatives of patients with serrated polyposis.

Authors:  Aung Ko Win; Rhiannon J Walters; Daniel D Buchanan; Mark A Jenkins; Kevin Sweet; Wendy L Frankel; Albert de la Chapelle; Diane M McKeone; Michael D Walsh; Mark Clendenning; Sally-Ann Pearson; Erika Pavluk; Belinda Nagler; John L Hopper; Michael R Gattas; Jack Goldblatt; Jill George; Graeme K Suthers; Kerry D Phillips; Sonja Woodall; Julie Arnold; Kathy Tucker; Michael Field; Sian Greening; Steve Gallinger; Melyssa Aronson; Renee Perrier; Michael O Woods; Jane S Green; Neal Walker; Christophe Rosty; Susan Parry; Joanne P Young
Journal:  Am J Gastroenterol       Date:  2012-04-24       Impact factor: 10.864

Review 6.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

7.  Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer).

Authors:  Elena M Stoffel; D Kim Turgeon; David H Stockwell; Lili Zhao; Daniel P Normolle; Missy K Tuck; Robert S Bresalier; Norman E Marcon; John A Baron; Mack T Ruffin; Dean E Brenner; Sapna Syngal
Journal:  Cancer Prev Res (Phila)       Date:  2008-11

8.  The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment.

Authors:  T Iwama; Y Mishima; J Utsunomiya
Journal:  Ann Surg       Date:  1993-02       Impact factor: 12.969

9.  Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

Authors:  Randall W Burt; Mark F Leppert; Martha L Slattery; Wade S Samowitz; Lisa N Spirio; Richard A Kerber; Scott K Kuwada; Deborah W Neklason; James A Disario; Elaine Lyon; J Preston Hughes; William Y Chey; Raymond L White
Journal:  Gastroenterology       Date:  2004-08       Impact factor: 22.682

10.  Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Reiner Caspari; Elisabeth Mangold; Constanze Pagenstecher; Peter Propping; Waltraut Friedl
Journal:  Eur J Hum Genet       Date:  2004-01       Impact factor: 4.246

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  41 in total

1.  Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Authors:  Stéphanie Baert-Desurmont; Sophie Coutant; Françoise Charbonnier; Pierre Macquere; François Lecoquierre; Mathias Schwartz; Maud Blanluet; Myriam Vezain; Raphaël Lanos; Olivier Quenez; Jacqueline Bou; Emilie Bouvignies; Steeve Fourneaux; Sandrine Manase; Stéphanie Vasseur; Jacques Mauillon; Marion Gerard; Régine Marlin; Gaëlle Bougeard; Julie Tinat; Thierry Frebourg; Isabelle Tournier
Journal:  Eur J Hum Genet       Date:  2018-07-02       Impact factor: 4.246

Review 2.  Hereditary Polyposis Syndromes.

Authors:  Trilokesh D Kidambi; Divyanshoo R Kohli; N Jewel Samadder; Aparajita Singh
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12

Review 3.  Molecular mechanisms of the preventable causes of cancer in the United States.

Authors:  Erica A Golemis; Paul Scheet; Tim N Beck; Eward M Scolnick; David J Hunter; Ernest Hawk; Nancy Hopkins
Journal:  Genes Dev       Date:  2018-06-26       Impact factor: 11.361

4.  Role of endoscopy in patients with familial adenomatous polyposis.

Authors:  Andrew D Hopper
Journal:  Frontline Gastroenterol       Date:  2022-06-08

5.  Analysis of genomic pathogenesis according to the revised Bethesda guidelines and additional criteria.

Authors:  Jin Cheon Kim; Jong Hwan Kim; Ye Jin Ha; Chan Wook Kim; Ka Hee Tak; Yong Sik Yoon; Yi Hong Kwon; Seon Ae Roh; Dong-Hyung Cho; Seon-Kyu Kim; Seon-Young Kim; Yong Sung Kim
Journal:  J Cancer Res Clin Oncol       Date:  2020-09-22       Impact factor: 4.553

Review 6.  Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.

Authors:  Anne Maria Lucia Jansen; Ajay Goel
Journal:  Clin Gastroenterol Hepatol       Date:  2020-03-05       Impact factor: 11.382

7.  Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition.

Authors:  Lars J Lindberg; Wia Wegen-Haitsma; Steen Ladelund; Lars Smith-Hansen; Christina Therkildsen; Inge Bernstein; Mef Nilbert
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

8.  Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.

Authors:  George Kunnackal John; Vipin Das Villgran; Christine Caufield-Noll; Francis M Giardiello
Journal:  Fam Cancer       Date:  2021-01-11       Impact factor: 2.375

Review 9.  Genomic landscape of colorectal carcinogenesis.

Authors:  Jin Cheon Kim; Walter F Bodmer
Journal:  J Cancer Res Clin Oncol       Date:  2022-01-20       Impact factor: 4.553

Review 10.  Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review.

Authors:  E Soons; T M Bisseling; M C A van Kouwen; G Möslein; P D Siersema
Journal:  United European Gastroenterol J       Date:  2021-05-07       Impact factor: 4.623

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