TGFBR1 c.575-2409A>G

Variant ID: 9-101897732-A-G

NM_004612.2(TGFBR1):c.575-2409A>G

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: rs928180
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases
Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G
Publication Date: 2020-09-22

Variant appearance in text: rs928180
PubMed Link: 32962750
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1533.pdf
View BVdb publication page



A Clinical-Genetic Score to Identify Surgically Resected Colorectal Cancer Patients Benefiting From an Adjuvant Fluoropyrimidine-Based Therapy.

Frontiers In Pharmacology
De Mattia, Elena E; Dreussi, Eva E; Montico, Marcella M; Gagno, Sara S; Zanusso, Chiara C; Quartuccio, Luca L; De Vita, Salvatore S; Guardascione, Michela M; Buonadonna, Angela A; D'Andrea, Mario M; Pella, Nicoletta N; Favaretto, Adolfo A; Mini, Enrico E; Nobili, Stefania S; Romanato, Loredana L; Cecchin, Erika E; Toffoli, Giuseppe G
Publication Date: 2018

Variant appearance in text: rs928180
PubMed Link: 30337874
Variant Present in the following documents:
  • Main text
  • fphar-09-01101.pdf
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: rs928180
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways.

Bmc Medical Genetics
Nazir, Nyla N; Siddiqui, Khalid K; Al-Qasim, Sara S; Al-Naqeb, Dhekra D
Publication Date: 2014-10-04

Variant appearance in text: rs928180
PubMed Link: 25280384
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_103.pdf
View BVdb publication page



Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain.

Bmc Cancer
Ross, Jason P JP; Lockett, Linda J LJ; Tabor, Bruce B; Saunders, Ian W IW; Young, Graeme P GP; Macrae, Finlay F; Blanco, Ignacio I; Capella, Gabriel G; Brown, Glenn S GS; Lockett, Trevor J TJ; Hannan, Garry N GN
Publication Date: 2014-07-01

Variant appearance in text: rs928180
PubMed Link: 24981199
Variant Present in the following documents:
  • Main text
  • 1471-2407-14-475.pdf
View BVdb publication page



TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer.

Plos One
Martinez-Canto, Ana A; Castillejo, Adela A; Mata-Balaguer, Trinidad T; Castillejo, Maria-Isabel MI; Hernandez-Illan, Eva E; Irles, Esperanza E; Barbera, Victor Manuel VM; Egoavil, Cecilia C; Guarinos, Carla C; Alenda, Cristina C; Ochoa, Enrique E; Lazaro, Rafael R; Fajardo, Silvia S; Lacueva, Javier J; Calpena, Rafael R; Soto, Jose Luis JL
Publication Date: 2012

Variant appearance in text: rs928180
PubMed Link: 22292045
Variant Present in the following documents:
  • Main text
  • pone.0030812.pdf
View BVdb publication page



Genetic variations in the transforming growth factor-beta pathway as predictors of survival in advanced non-small cell lung cancer.

Carcinogenesis
Lin, Moubin M; Stewart, David J DJ; Spitz, Margaret R MR; Hildebrandt, Michelle A T MA; Lu, Charles C; Lin, Jie J; Gu, Jian J; Huang, Maosheng M; Lippman, Scott M SM; Wu, Xifeng X
Publication Date: 2011-07

Variant appearance in text: rs928180
PubMed Link: 21515830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Chen, Wei W; Abrams, Judith J; Land, Susan S; Giroux, Craig N CN; Schwartz, Ann G AG
Publication Date: 2009-06

Variant appearance in text: rs928180
PubMed Link: 19505916
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

Cytokine
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angie S AS; Land, Susan S; Schwartz, Ann G AG
Publication Date: 2009-05

Variant appearance in text: rs928180
PubMed Link: 19356949
Variant Present in the following documents:
  • Main text
View BVdb publication page



TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.

International Journal Of Cancer
Castillejo, Adela A; Rothman, Nathaniel N; Murta-Nascimento, Cristiane C; Malats, Núria N; García-Closas, Montserrat M; Gómez-Martínez, Angeles A; Lloreta, Josep J; Tardón, Adonina A; Serra, Consol C; García-Closas, Reina R; Chanock, Stephen S; Silverman, Debra T DT; Dosemeci, Mustafa M; Kogevinas, Manolis M; Carrato, Alfredo A; Soto, José Luis JL; Real, Francisco X FX
Publication Date: 2009-02-01

Variant appearance in text: rs928180
PubMed Link: 19004027
Variant Present in the following documents:
  • Main text
View BVdb publication page