Literature DB >> 25399228

The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

Maksim S Anisimenko1, Anton E Kozyakov, Galina A Paul, Sergey P Kovalenko.   

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Year:  2014        PMID： 25399228     DOI： 10.1007/s10549-014-3187-0

Source DB:  PubMed          Journal:  Breast Cancer Res Treat        ISSN： 0167-6806            Impact factor:   4.872


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  7 in total

1.  First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.

Authors:  Evgeny N Suspitsin; Farida I Sibgatullina; Lydia V Lyazina; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2017-01-17

2.  Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Authors:  Magdalena Koczkowska; Natalia Krawczynska; Maciej Stukan; Alina Kuzniacka; Izabela Brozek; Marcin Sniadecki; Jaroslaw Debniak; Dariusz Wydra; Wojciech Biernat; Piotr Kozlowski; Janusz Limon; Bartosz Wasag; Magdalena Ratajska
Journal:  Cancers (Basel)       Date:  2018-11-14       Impact factor: 6.639

3.  Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.

Authors:  Jordan D Frey; Ara A Salibian; Freya R Schnabel; Mihye Choi; Nolan S Karp
Journal:  Plast Reconstr Surg Glob Open       Date:  2017-11-20

4.  Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

Authors:  Paula Paulo; Sofia Maia; Carla Pinto; Pedro Pinto; Augusta Monteiro; Ana Peixoto; Manuel R Teixeira
Journal:  PLoS Genet       Date:  2018-04-16       Impact factor: 5.917

5.  Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer.

Authors:  Wojciech Kluźniak; Dominika Wokołorczyk; Bogna Rusak; Tomasz Huzarski; Aniruddh Kashyap; Klaudia Stempa; Helena Rudnicka; Anna Jakubowska; Marek Szwiec; Sylwia Morawska; Katarzyna Gliniewicz; Karina Mordak; Małgorzata Stawicka; Joanna Jarkiewicz-Tretyn; Magdalena Cechowska; Paweł Domagała; Tadeusz Dębniak; Marcin Lener; Jacek Gronwald; Jan Lubiński; Steven A Narod; Mohammad R Akbari; Cezary Cybulski
Journal:  Cancers (Basel)       Date:  2019-10-13       Impact factor: 6.639

6.  Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.

Authors:  Sujuan Feng; Xiaosong Qian; Dalin Feng; Xiaodong Zhang
Journal:  Mol Med Rep       Date:  2022-08-25       Impact factor: 3.423

7.  A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.

Authors:  Erik Michel Marchena-Perea; Milton Eduardo Salazar-Hidalgo; Alicia Gómez-Sanz; Mónica Arranz-Ledo; Alicia Barroso; Victoria Fernández; Hugo Tejera-Pérez; Guillermo Pita; Rocío Núñez-Torres; Luz Pombo; Rafael Morales-Chamorro; Juana María Cano-Cano; Maria Del Carmen Soriano; Pilar Garre; Mercedes Durán; María Currás-Freixes; Miguel de la Hoya; Ana Osorio
Journal:  Cancers (Basel)       Date:  2022-09-28       Impact factor: 6.575
  7 in total

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