Literature DB >> 32860789

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.

Fadwa A Elsayed1, Judith E Grolleman2, Abiramy Ragunathan3, Daniel D Buchanan3, Tom van Wezel1, Richarda M de Voer4.   

Abstract

Entities:  

Keywords:  Base Excision Repair; Colorectal Cancer; Mutation Carrier; Tumor Mutational Signatures

Year:  2020        PMID： 32860789      PMCID： PMC7899696          DOI： 10.1053/j.gastro.2020.08.042

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


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  8 in total

1.  Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

Authors:  Aung Ko Win; Sean P Cleary; James G Dowty; John A Baron; Joanne P Young; Daniel D Buchanan; Melissa C Southey; Terrilea Burnett; Patrick S Parfrey; Roger C Green; Loïc Le Marchand; Polly A Newcomb; Robert W Haile; Noralane M Lindor; John L Hopper; Steven Gallinger; Mark A Jenkins
Journal:  Int J Cancer       Date:  2011-04-08       Impact factor: 7.396

2.  A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.

Authors:  Robbert D A Weren; Marjolijn J L Ligtenberg; C Marleen Kets; Richarda M de Voer; Eugène T P Verwiel; Liesbeth Spruijt; Wendy A G van Zelst-Stams; Marjolijn C Jongmans; Christian Gilissen; Jayne Y Hehir-Kwa; Alexander Hoischen; Jay Shendure; Evan A Boyle; Eveline J Kamping; Iris D Nagtegaal; Bastiaan B J Tops; Fokko M Nagengast; Ad Geurts van Kessel; J Han J M van Krieken; Roland P Kuiper; Nicoline Hoogerbrugge
Journal:  Nat Genet       Date:  2015-05-04       Impact factor: 38.330

Review 3.  Base excision repair.

Authors:  Hans E Krokan; Magnar Bjørås
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-04-01       Impact factor: 10.005

4.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

5.  Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Authors:  Judith E Grolleman; Richarda M de Voer; Fadwa A Elsayed; Maartje Nielsen; Robbert D A Weren; Claire Palles; Marjolijn J L Ligtenberg; Janet R Vos; Sanne W Ten Broeke; Noel F C C de Miranda; Renske A Kuiper; Eveline J Kamping; Erik A M Jansen; M Elisa Vink-Börger; Isabell Popp; Alois Lang; Isabel Spier; Robert Hüneburg; Paul A James; Na Li; Marija Staninova; Helen Lindsay; David Cockburn; Olivera Spasic-Boskovic; Mark Clendenning; Kevin Sweet; Gabriel Capellá; Wenche Sjursen; Hildegunn Høberg-Vetti; Marjolijn C Jongmans; Kornelia Neveling; Ad Geurts van Kessel; Hans Morreau; Frederik J Hes; Rolf H Sijmons; Hans K Schackert; Clara Ruiz-Ponte; Dagmara Dymerska; Jan Lubinski; Barbara Rivera; William D Foulkes; Ian P Tomlinson; Laura Valle; Daniel D Buchanan; Sue Kenwrick; Julian Adlard; Aleksandar J Dimovski; Ian G Campbell; Stefan Aretz; Detlev Schindler; Tom van Wezel; Nicoline Hoogerbrugge; Roland P Kuiper
Journal:  Cancer Cell       Date:  2019-02-11       Impact factor: 31.743

6.  The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data.

Authors:  Ethan Cerami; Jianjiong Gao; Ugur Dogrusoz; Benjamin E Gross; Selcuk Onur Sumer; Bülent Arman Aksoy; Anders Jacobsen; Caitlin J Byrne; Michael L Heuer; Erik Larsson; Yevgeniy Antipin; Boris Reva; Arthur P Goldberg; Chris Sander; Nikolaus Schultz
Journal:  Cancer Discov       Date:  2012-05       Impact factor: 39.397

7.  Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

Authors:  Richarda M de Voer; Marc-Manuel Hahn; Arjen R Mensenkamp; Alexander Hoischen; Christian Gilissen; Arjen Henkes; Liesbeth Spruijt; Wendy A van Zelst-Stams; C Marleen Kets; Eugene T Verwiel; Iris D Nagtegaal; Hans K Schackert; Ad Geurts van Kessel; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Roland P Kuiper
Journal:  Sci Rep       Date:  2015-09-11       Impact factor: 4.379

8.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
  8 in total
  7 in total

Review 1.  Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.

Authors:  S H Beck; A M Jelsig; H M Yassin; L J Lindberg; K A W Wadt; J G Karstensen
Journal:  Fam Cancer       Date:  2022-03-16       Impact factor: 2.375

2.  Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.

Authors:  Malene Djursby; Thomas van Overeem Hansen; Karin A W Wadt; Majbritt Busk Madsen; Lukas Adrian Berchtold; Charlotte Kvist Lautrup; Sara Markholt; Uffe Birk Jensen; Lotte Nylandsted Krogh; Malene Lundsgaard; Anne Marie Gerdes; Mef Nilbert; Christina Therkildsen
Journal:  Hum Genet       Date:  2022-07-29       Impact factor: 5.881

3.  Second Case of Tumors Associated With Heterozygous NTHL1 Variant.

Authors:  Danyon J Anderson; Trenton Reinicke; Andrew W Boyle; Mokshal H Porwal; Allan H Friedman
Journal:  Cureus       Date:  2022-07-11

4.  Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Authors:  Paul A James; Ian G Campbell; Na Li; Magnus Zethoven; Simone McInerny; Lisa Devereux; Yu-Kuan Huang; Niko Thio; Dane Cheasley; Sara Gutiérrez-Enríquez; Alejandro Moles-Fernández; Orland Diez; Tu Nguyen-Dumont; Melissa C Southey; John L Hopper; Jacques Simard; Martine Dumont; Penny Soucy; Alfons Meindl; Rita Schmutzler; Marjanka K Schmidt; Muriel A Adank; Irene L Andrulis; Eric Hahnen; Christoph Engel; Fabienne Lesueur; Elodie Girard; Susan L Neuhausen; Elad Ziv; Jamie Allen; Douglas F Easton; Rodney J Scott; Kylie L Gorringe
Journal:  NPJ Breast Cancer       Date:  2021-05-12

5.  TINF2 is a haploinsufficient tumor suppressor that limits telomere length.

Authors:  Isabelle Schmutz; Arjen R Mensenkamp; Kaori K Takai; Maaike Haadsma; Liesbeth Spruijt; Richarda M de Voer; Seunga Sara Choo; Franziska K Lorbeer; Emma J van Grinsven; Dirk Hockemeyer; Marjolijn Cj Jongmans; Titia de Lange
Journal:  Elife       Date:  2020-12-01       Impact factor: 8.140

6.  Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.

Authors:  Erin E Salo-Mullen; Anna Maio; Semanti Mukherjee; Chaitanya Bandlamudi; Jinru Shia; Yelena Kemel; Karen A Cadoo; Ying Liu; Maria Carlo; Megha Ranganathan; Sarah Kane; Preethi Srinivasan; Shweta S Chavan; Mark T A Donoghue; Caitlin Bourque; Margaret Sheehan; Prince Rainier Tejada; Zalak Patel; Angela G Arnold; Jennifer A Kennedy; Kimberly Amoroso; Kelsey Breen; Amanda Catchings; Rosalba Sacca; Vanessa Marcell; Arnold J Markowitz; Alicia Latham; Michael Walsh; Maksym Misyura; Ozge Ceyhan-Birsoy; David B Solit; Michael F Berger; Mark E Robson; Barry S Taylor; Kenneth Offit; Diana Mandelker; Zsofia K Stadler
Journal:  JCO Precis Oncol       Date:  2021-02-26

Review 7.  POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Authors:  Luigi Magrin; Daniele Fanale; Chiara Brando; Antonio Russo; Viviana Bazan; Alessia Fiorino; Lidia Rita Corsini; Roberta Sciacchitano; Clarissa Filorizzo; Alessandra Dimino
Journal:  Oncogene       Date:  2021-08-06       Impact factor: 9.867
  7 in total

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