TGFB1 and TGFBR1 polymorphisms and breast cancer risk in the Nurses' Health Study.
BACKGROUND
Transforming growth factor beta 1 (TGFB1) forms a signaling complex with transforming growth factor beta receptors 1 and 2 and has been described as both a tumor suppressor and tumor promoter. Single nucleotide polymorphisms in TGFB1 and a microsatellite in TGFBR1 have been investigated for association with risk of breast cancer, with conflicting results.


METHODS
We examined polymorphisms in the promoter region of the TGFB1 gene as well as the TGFBR1*6A microsatellite in the Nurses' Health Study cohort.


RESULTS
No overall associations between the L10P polymorphism of TGFB1 or the TGFBR1 microsatellite were detected. However, we observed an inverse association between the -509 C/T polymorphism of TGFB1 (p-trend = 0.04), which was stronger and more significant among women with estrogen receptor positive breast cancer.


CONCLUSIONS
Polymorphisms in the promoter region of TGFB1 are not likely to be associated with large increases in breast cancer risk overall among Caucasian women.
Cox
David G
DG
Program in Molecular and Genetic Epidemiology, Epidemiology Department, Harvard School of Public Health, USA. dcox@hsph.harvard.edu
Penney
Kathryn
K
Guo
Qun
Q
Hankinson
Susan E
SE
Hunter
David J
DJ
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012306:Risk; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
D018125:Receptors, Transforming Growth Factor beta; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human