Literature DB >> 30248171

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations.

Florentia Fostira1, Emmanouil Kontopodis2, Paraskevi Apostolou1, Maria Fragkaki2, Nikolaos Androulakis2, Drakoulis Yannoukakos1, Irene Konstantopoulou1, Emmanouil Saloustros3.   

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Year:  2018        PMID： 30248171     DOI： 10.1111/cge.13444

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 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

Review 2.  How many is too many? Polyposis syndromes and what to do next.

Authors:  Nina Gupta; Christine Drogan; Sonia S Kupfer
Journal:  Curr Opin Gastroenterol       Date:  2022-01-01       Impact factor: 3.287

3.  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

4.  NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Authors:  Sami Belhadj; Isabel Quintana; Pilar Mur; Pau M Munoz-Torres; M Henar Alonso; Matilde Navarro; Mariona Terradas; Virginia Piñol; Joan Brunet; Victor Moreno; Conxi Lázaro; Gabriel Capellá; Laura Valle
Journal:  Sci Rep       Date:  2019-06-21       Impact factor: 4.379

5.  A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis.

Authors:  Mays Altaraihi; Anne-Marie Gerdes; Karin Wadt
Journal:  Hum Genome Var       Date:  2019-10-10

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.  The Inherited and Familial Component of Early-Onset Colorectal Cancer.

Authors:  Maria Daca Alvarez; Isabel Quintana; Mariona Terradas; Pilar Mur; Francesc Balaguer; Laura Valle
Journal:  Cells       Date:  2021-03-23       Impact factor: 6.600

8.  Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis.

Authors:  Brittany L Carroll; Karl E Zahn; John P Hanley; Susan S Wallace; Julie A Dragon; Sylvie Doublié
Journal:  Nucleic Acids Res       Date:  2021-12-16       Impact factor: 19.160
  8 in total

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