Literature DB >> 25673086

Milestones of Lynch syndrome: 1895-2015.

Henry T Lynch1, Carrie L Snyder1, Trudy G Shaw1, Christopher D Heinen2, Megan P Hitchins3.   

Abstract

Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer condition, is characterized by the predisposition to a spectrum of cancers, primarily colorectal cancer and endometrial cancer. We chronicle over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome, beginning in 1895 with Warthin's observations of familial cancer clusters, through the clinical era led by Lynch and the genetic era heralded by the discovery of causative mutations in mismatch repair (MMR) genes, to ongoing challenges.

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Year:  2015        PMID: 25673086     DOI: 10.1038/nrc3878

Source DB:  PubMed          Journal:  Nat Rev Cancer        ISSN: 1474-175X            Impact factor:   60.716


  197 in total

1.  MSH2 genomic deletions are a frequent cause of HNPCC.

Authors:  J Wijnen; H van der Klift; H Vasen; P M Khan; F Menko; C Tops; H Meijers Heijboer; D Lindhout; P Møller; R Fodde
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

Review 2.  Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer.

Authors:  J M Church
Journal:  Ann Med       Date:  1996-12       Impact factor: 4.709

3.  Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.

Authors:  Henry T Lynch; Douglas L Riegert-Johnson; Carrie Snyder; Jane F Lynch; Jill Hagenkord; C Richard Boland; Jennifer Rhees; Stephen N Thibodeau; Lisa A Boardman; Janine Davies; Roland P Kuiper; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg
Journal:  Am J Gastroenterol       Date:  2011-07-19       Impact factor: 10.864

4.  Colorectal adenoma stem-like cell populations: associations with adenoma characteristics and metachronous colorectal neoplasia.

Authors:  Angela N Bartley; Nila Parikh; Chiu-Hsieh Hsu; Denise J Roe; Julie A Buckmeier; Lynda Corley; Ron A Phipps; Gary Gallick; Peter Lance; Patricia A Thompson; Stanley R Hamilton
Journal:  Cancer Prev Res (Phila)       Date:  2013-09-05

5.  History and molecular genetics of Lynch syndrome in family G: a century later.

Authors:  Julie A Douglas; Stephen B Gruber; Karen A Meister; Joseph Bonner; Patrice Watson; Anne J Krush; Henry T Lynch
Journal:  JAMA       Date:  2005-11-02       Impact factor: 56.272

6.  MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Authors:  Françoise Charbonnier; Sylviane Olschwang; Qing Wang; Cécile Boisson; Cosette Martin; Marie-Pierre Buisine; Alain Puisieux; Thierry Frebourg
Journal:  Cancer Res       Date:  2002-02-01       Impact factor: 12.701

Review 7.  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

8.  Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

Authors:  Natalie Jones; Stefanie Vogt; Maartje Nielsen; Daria Christian; Petra A Wark; Diana Eccles; Emma Edwards; D Gareth Evans; Eamonn R Maher; Hans F Vasen; Frederik J Hes; Stefan Aretz; Julian R Sampson
Journal:  Gastroenterology       Date:  2009-04-23       Impact factor: 22.682

9.  Predictive biomarkers of chemotherapy efficacy in colorectal cancer: results from the UK MRC FOCUS trial.

Authors:  Michael S Braun; Susan D Richman; Philip Quirke; Catherine Daly; Julian W Adlard; Faye Elliott; Jennifer H Barrett; Peter Selby; Angela M Meade; Richard J Stephens; Mahesh K B Parmar; Matthew T Seymour
Journal:  J Clin Oncol       Date:  2008-06-01       Impact factor: 44.544

Review 10.  Lynch syndrome: implications for the surgeon.

Authors:  Courtney L Scaife; Miguel A Rodriguez-Bigas
Journal:  Clin Colorectal Cancer       Date:  2003-08       Impact factor: 4.481

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  208 in total

Review 1.  Constitutional epimutation as a mechanism for cancer causality and heritability?

Authors:  Megan P Hitchins
Journal:  Nat Rev Cancer       Date:  2015-09-18       Impact factor: 60.716

Review 2.  Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer.

Authors:  Christopher D Heinen
Journal:  DNA Repair (Amst)       Date:  2015-12-02

Review 3.  Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.

Authors:  Megan P Hitchins
Journal:  Fam Cancer       Date:  2016-07       Impact factor: 2.375

Review 4.  Mismatch repair.

Authors:  Richard Fishel
Journal:  J Biol Chem       Date:  2015-09-09       Impact factor: 5.157

5.  Loss of mutL homolog-1 (MLH1) expression promotes acquisition of oncogenic and inhibitor-resistant point mutations in tyrosine kinases.

Authors:  Lorraine Springuel; Elisabeth Losdyck; Pascale Saussoy; Béatrice Turcq; François-Xavier Mahon; Laurent Knoops; Jean-Christophe Renauld
Journal:  Cell Mol Life Sci       Date:  2016-07-19       Impact factor: 9.261

Review 6.  Clinical implications of mismatch repair deficiency in prostate cancer.

Authors:  Ramy Sedhom; Emmanuel S Antonarakis
Journal:  Future Oncol       Date:  2019-06-25       Impact factor: 3.404

7.  Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.

Authors:  Abhijit Rath; Akriti Mishra; Victoria Duque Ferreira; Chaoran Hu; Gregory Omerza; Kevin Kelly; Andrew Hesse; Honey V Reddi; James P Grady; Christopher D Heinen
Journal:  Hum Mutat       Date:  2019-08-17       Impact factor: 4.878

8.  Uterine endometrial carcinoma with DNA mismatch repair deficiency: magnetic resonance imaging findings and clinical features.

Authors:  Kiyoyuki Minamiguchi; Junko Takahama; Tomoko Uchiyama; Ryosuke Taiji; Natsuhiko Saito; Hiroshi Okada; Nagaaki Marugami; Yasuhito Tanase; Ryuji Kawaguchi; Chiho Ohbayashi; Hiroshi Kobayashi; Toshiko Hirai; Kimihiko Kichikawa
Journal:  Jpn J Radiol       Date:  2018-05-04       Impact factor: 2.374

9.  Tumor Molecular Testing Guides Anti-PD-1 Therapy and Provides Evidence for Pathogenicity of Mismatch Repair Variants.

Authors:  Shyam A Patel; Teri A Longacre; Uri Ladabaum; Alexandra Lebensohn; Albert Y Lin; Sigurdis Haraldsdottir
Journal:  Oncologist       Date:  2018-08-02

10.  Structure of the Mucosal and Stool Microbiome in Lynch Syndrome.

Authors:  Yan Yan; David A Drew; Arnold Markowitz; Jason Lloyd-Price; Galeb Abu-Ali; Long H Nguyen; Christina Tran; Daniel C Chung; Katherine K Gilpin; Dana Meixell; Melanie Parziale; Madeline Schuck; Zalak Patel; James M Richter; Peter B Kelsey; Wendy S Garrett; Andrew T Chan; Zsofia K Stadler; Curtis Huttenhower
Journal:  Cell Host Microbe       Date:  2020-04-01       Impact factor: 21.023

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