Literature DB >> 22582126

Genetic testing for lynch syndrome, an inherited cancer of the bowel, endometrium, and ovary.

J Craig Strafford1.   

Abstract

Genetic screening for the mismatch repair genes found in patients with Lynch syndrome leads to improvements in health outcomes among carriers and members of their family. Clinicians now have a simple and easily employed means of determining if an individual carries the genetic mutations found with Lynch syndrome. This article reviews the background and incidence of Lynch syndrome and presents screening criteria, including the use of Web-based algorithms to estimate the likelihood of an individual having inherited Lynch mutations. Comprehensive management plans based on individual risk and family history plus appropriate preventive measures are recommended. Primary care providers including obstetrician-gynecologists are encouraged to adopt a proactive, evidence-based approach to address patients and their relatives with Lynch syndrome.

Entities:  

Keywords:  Cancer screening; Colorectal cancer; Endometrial cancer; Familial cancer; Genetic testing; Hereditary cancer; Lynch syndrome; Ovarian cancer

Year:  2012        PMID: 22582126      PMCID: PMC3349923     

Source DB:  PubMed          Journal:  Rev Obstet Gynecol        ISSN: 1941-2797


  10 in total

1.  Cancer risk assessment in Lynch syndrome: does the gene matter?

Authors:  Rosa M Xicola; Xavier Llor
Journal:  JAMA       Date:  2011-06-08       Impact factor: 56.272

2.  Who should have genetic testing for the Lynch syndrome?

Authors:  Randall W Burt
Journal:  Ann Intern Med       Date:  2011-07-19       Impact factor: 25.391

3.  Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Authors:  Valérie Bonadona; Bernard Bonaïti; Sylviane Olschwang; Sophie Grandjouan; Laetitia Huiart; Michel Longy; Rosine Guimbaud; Bruno Buecher; Yves-Jean Bignon; Olivier Caron; Chrystelle Colas; Catherine Noguès; Sophie Lejeune-Dumoulin; Laurence Olivier-Faivre; Florence Polycarpe-Osaer; Tan Dat Nguyen; Françoise Desseigne; Jean-Christophe Saurin; Pascaline Berthet; Dominique Leroux; Jacqueline Duffour; Sylvie Manouvrier; Thierry Frébourg; Hagay Sobol; Christine Lasset; Catherine Bonaïti-Pellié
Journal:  JAMA       Date:  2011-06-08       Impact factor: 56.272

4.  Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis.

Authors:  Uri Ladabaum; Grace Wang; Jonathan Terdiman; Amie Blanco; Miriam Kuppermann; C Richard Boland; James Ford; Elena Elkin; Kathryn A Phillips
Journal:  Ann Intern Med       Date:  2011-07-19       Impact factor: 25.391

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

Authors:  Kathleen Y Yang; Aaron B Caughey; Sarah E Little; Michael K Cheung; Lee-May Chen
Journal:  Fam Cancer       Date:  2011-09       Impact factor: 2.375

Review 6.  The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications.

Authors:  Daniel C Chung; Anil K Rustgi
Journal:  Ann Intern Med       Date:  2003-04-01       Impact factor: 25.391

7.  Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.

Authors:  Tuan A Dinh; Benjamin I Rosner; James C Atwood; C Richard Boland; Sapna Syngal; Hans F A Vasen; Stephen B Gruber; Randall W Burt
Journal:  Cancer Prev Res (Phila)       Date:  2010-11-18

8.  Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors.

Authors:  Zohreh Ketabi; Katarina Bartuma; Inge Bernstein; Susanne Malander; Henrik Grönberg; Erik Björck; Susanne Holck; Mef Nilbert
Journal:  Gynecol Oncol       Date:  2011-03-09       Impact factor: 5.482

9.  Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Authors:  Kristina Lagerstedt Robinson; Tao Liu; Jana Vandrovcova; Britta Halvarsson; Mark Clendenning; Thierry Frebourg; Nickolas Papadopoulos; Kenneth W Kinzler; Bert Vogelstein; Päivi Peltomäki; Richard D Kolodner; Mef Nilbert; Annika Lindblom
Journal:  J Natl Cancer Inst       Date:  2007-02-21       Impact factor: 13.506

10.  Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations.

Authors:  Chanita Hughes Halbert; Henry Lynch; Jane Lynch; David Main; Susan Kucharski; Anil K Rustgi; Caryn Lerman
Journal:  Arch Intern Med       Date:  2004-09-27
  10 in total
  10 in total

1.  Molecular Oncology in Management of Colorectal Cancer.

Authors:  Ramraj Nagendra Gupta Vemala; Sanjeev Vasudev Katti; Bhawna Sirohi; Divya Manikandan; Govind Nandakumar
Journal:  Indian J Surg Oncol       Date:  2021-03-16

Review 2.  Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

Authors:  Adele Wong; Joanne Ngeow
Journal:  Biomed Res Int       Date:  2015-06-16       Impact factor: 3.411

3.  DREMECELS: A Curated Database for Base Excision and Mismatch Repair Mechanisms Associated Human Malignancies.

Authors:  Ankita Shukla; Ahmed Moussa; Tiratha Raj Singh
Journal:  PLoS One       Date:  2016-06-08       Impact factor: 3.240

4.  Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study.

Authors:  Marika Plöthner; Katharina Schmidt; Clarissa Schips; Kathrin Damm
Journal:  Pharmgenomics Pers Med       Date:  2018-02-14

5.  Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Authors:  Jaime L Stafford; Gregory Dyson; Nancy K Levin; Sophia Chaudhry; Rita Rosati; Hasini Kalpage; Courtney Wernette; Nancie Petrucelli; Michael S Simon; Michael A Tainsky
Journal:  PLoS One       Date:  2017-06-07       Impact factor: 3.240

6.  DNA Mismatch Repair Protein Immunohistochemistry and MLH1 Promotor Methylation Testing for Practical Molecular Classification and the Prediction of Prognosis in Endometrial Cancer.

Authors:  Jisup Kim; Jin Kyoung Kong; Wookyeom Yang; Hanbyoul Cho; Doo Byung Chay; Bang Hyun Lee; Seong Jin Cho; Soonwon Hong; Jae-Hoon Kim
Journal:  Cancers (Basel)       Date:  2018-08-21       Impact factor: 6.639

7.  Quantifying Microsatellite Mutation Rates from Intestinal Stem Cell Dynamics in Msh2-Deficient Murine Epithelium.

Authors:  Joseph Christopher; Ann-Sofie Thorsen; Sam Abujudeh; Filipe C Lourenço; Richard Kemp; Paul K Potter; Edward Morrissey; Lee Hazelwood; Douglas J Winton
Journal:  Genetics       Date:  2019-05-24       Impact factor: 4.562

8.  Frequency of Mismatch Repair Protein (MMRP) Deficiency among Young Jordanians Diagnosed with Colorectal Carcinoma (CRC).

Authors:  Bayan Maraqa; Ghassan Al-Shbool; Osama Abu-Shawer; Mamoun Souleiman; Osama Alshakhatreh; Amal Al-Omari; Hadeel Abdelkhaleq; Ayat Taqash; Maysa Al-Hussaini
Journal:  Gastroenterol Res Pract       Date:  2020-04-23       Impact factor: 2.260

Review 9.  Lynch Syndrome: Its Impact on Urothelial Carcinoma.

Authors:  Andrea Katharina Lindner; Gert Schachtner; Gennadi Tulchiner; Martin Thurnher; Gerold Untergasser; Peter Obrist; Iris Pipp; Fabian Steinkohl; Wolfgang Horninger; Zoran Culig; Renate Pichler
Journal:  Int J Mol Sci       Date:  2021-01-07       Impact factor: 5.923

10.  Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.

Authors:  Jason E Miller; Raghu P Metpally; Thomas N Person; Sarathbabu Krishnamurthy; Venkata Ramesh Dasari; Manu Shivakumar; Daniel R Lavage; Adam M Cook; David J Carey; Marylyn D Ritchie; Dokyoon Kim; Radhika Gogoi
Journal:  BMC Med Genomics       Date:  2019-05-03       Impact factor: 3.063

  10 in total

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