Literature DB >> 26559593

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

Barbara Rivera1,2, Ester Castellsagué1, Ismaël Bah1, Léon C van Kempen3, William D Foulkes1.   

Abstract

A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

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Year:  2015        PMID： 26559593     DOI： 10.1056/NEJMc1506878

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


  31 in total

Review 1.  Repair of oxidatively induced DNA damage by DNA glycosylases: Mechanisms of action, substrate specificities and excision kinetics.

Authors:  Miral Dizdaroglu; Erdem Coskun; Pawel Jaruga
Journal:  Mutat Res Rev Mutat Res       Date:  2017-02-16       Impact factor: 5.657

2.  Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Authors:  Ronja Adam; Isabel Spier; Bixiao Zhao; Michael Kloth; Jonathan Marquez; Inga Hinrichsen; Jutta Kirfel; Aylar Tafazzoli; Sukanya Horpaopan; Siegfried Uhlhaas; Dietlinde Stienen; Nicolaus Friedrichs; Janine Altmüller; Andreas Laner; Stefanie Holzapfel; Sophia Peters; Katrin Kayser; Holger Thiele; Elke Holinski-Feder; Giancarlo Marra; Glen Kristiansen; Markus M Nöthen; Reinhard Büttner; Gabriela Möslein; Regina C Betz; Angela Brieger; Richard P Lifton; Stefan Aretz
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

3.  NTHL1-associate polyposis: first Australian case report.

Authors:  Alexandra Groves; Margaret Gleeson; Allan D Spigelman
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

4.  Identification of SUMO modification sites in the base excision repair protein, Ntg1.

Authors:  Daniel B Swartzlander; Annie J McPherson; Harry R Powers; Kristin L Limpose; Emily G Kuiper; Natalya P Degtyareva; Anita H Corbett; Paul W Doetsch
Journal:  DNA Repair (Amst)       Date:  2016-10-31

5.  Base Excision Repair Variants in Cancer.

Authors:  Carolyn G Marsden; Julie A Dragon; Susan S Wallace; Joann B Sweasy
Journal:  Methods Enzymol       Date:  2017-05-05       Impact factor: 1.600

Review 6.  Advances in Hereditary Colorectal and Pancreatic Cancers.

Authors:  Meghan L Underhill; Katharine A Germansky; Matthew B Yurgelun
Journal:  Clin Ther       Date:  2016-04-02       Impact factor: 3.393

7.  Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

Authors:  Jarno Drost; Ruben van Boxtel; Francis Blokzijl; Tomohiro Mizutani; Nobuo Sasaki; Valentina Sasselli; Joep de Ligt; Sam Behjati; Judith E Grolleman; Tom van Wezel; Serena Nik-Zainal; Roland P Kuiper; Edwin Cuppen; Hans Clevers
Journal:  Science       Date:  2017-09-14       Impact factor: 47.728

Review 8.  Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.

Authors:  Peter Broderick; Sara E Dobbins; Daniel Chubb; Ben Kinnersley; Malcolm G Dunlop; Ian Tomlinson; Richard S Houlston
Journal:  Gastroenterology       Date:  2016-10-03       Impact factor: 22.682

9.  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 10.  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
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