BLM c.3752-499A>C

Variant ID: 15-91351868-A-C

NM_000057.2(BLM):c.3752-499A>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports
Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL
Publication Date: 2021-09

Variant appearance in text: rs2270132
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients.

Cancers
Aguado-Barrera, Miguel E ME; Martínez-Calvo, Laura L; Fernández-Tajes, Juan J; Calvo-Crespo, Patricia P; Taboada-Valladares, Begoña B; Lobato-Busto, Ramón R; Gómez-Caamaño, Antonio A; Vega, Ana A
Publication Date: 2021-03-22

Variant appearance in text: rs2270132
PubMed Link: 33810047
Variant Present in the following documents:
  • Main text
  • cancers-13-01447-s001.pdf
  • cancers-13-01447.pdf
View BVdb publication page



Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific Reports
Alzahrani, Faisal A FA; Ahmed, Firoz F; Sharma, Monika M; Rehan, Mohd M; Mahfuz, Maryam M; Baeshen, Mohammed N MN; Hawsawi, Yousef Y; Almatrafi, Ahmed A; Alsagaby, Suliman Abdallah SA; Kamal, Mohammad Azhar MA; Warsi, Mohiuddin Khan MK; Choudhry, Hani H; Jamal, Mohammad Sarwar MS
Publication Date: 2020-07-23

Variant appearance in text: BLM: 3752-499A>C; rs2270132
PubMed Link: 32704157
Variant Present in the following documents:
  • 41598_2020_69033_MOESM3_ESM.xlsx, sheet 1
  • 41598_2020_69033_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2270132
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer.

Cancers
Zhao, Lina L; Pu, Xia X; Ye, Yuanqing Y; Lu, Charles C; Chang, Joe Y JY; Wu, Xifeng X
Publication Date: 2016-02-18

Variant appearance in text: rs2270132
PubMed Link: 26901225
Variant Present in the following documents:
  • Main text
  • cancers-08-00023.pdf
View BVdb publication page



BLM and RAD51 genes polymorphism and susceptibility to breast cancer.

Pathology Oncology Research : Por
Sassi, Agnieszka A; Popielarski, Marcin M; Synowiec, Ewelina E; Morawiec, Zbigniew Z; Wozniak, Katarzyna K
Publication Date: 2013-07

Variant appearance in text: rs2270132
PubMed Link: 23404160
Variant Present in the following documents:
  • Main text
  • 12253_2013_Article_9602.pdf
View BVdb publication page



A novel survival multifactor dimensionality reduction method for detecting gene-gene interactions with application to bladder cancer prognosis.

Human Genetics
Gui, Jiang J; Moore, Jason H JH; Kelsey, Karl T KT; Marsit, Carmen J CJ; Karagas, Margaret R MR; Andrew, Angeline S AS
Publication Date: 2011-01

Variant appearance in text: rs2270132
PubMed Link: 20981448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

Carcinogenesis
Lan, Qing Q; Zhang, Luoping L; Shen, Min M; Jo, William J WJ; Vermeulen, Roel R; Li, Guilan G; Vulpe, Christopher C; Lim, Sophia S; Ren, Xuefeng X; Rappaport, Stephen M SM; Berndt, Sonja I SI; Yeager, Meredith M; Yuenger, Jeff J; Hayes, Richard B RB; Linet, Martha M; Yin, Songnian S; Chanock, Stephen S; Smith, Martyn T MT; Rothman, Nathaniel N
Publication Date: 2009-01

Variant appearance in text: rs2270132
PubMed Link: 18978339
Variant Present in the following documents:
  • Main text
View BVdb publication page