TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer.

Abstract

Two common variants in transforming growth factor-beta receptor 1 (TGFBR1), TGFBR1(*)6A and Int7G24A, A allele, have been shown to act as low-penetrance tumour susceptibility alleles in several common cancers, including breast cancer. We evaluated the TGFBR1 9A/6A and Int7G24A variant frequencies in two breast cancer cohorts; a population-based cohort of breast cancer with defined family history (n=459) and in breast cancer patients from a familial cancer clinic (n=340) and in 856 controls from the Stockholm region. The familial patients from both cohorts were further divided into high- and low-risk familial breast cancer based on pedigree analysis. There was no overall association with either variant and breast cancer risk. The TGFBR1(*)6A allelic frequency was, however, higher in low-risk familial breast cancer (0.138), compared to controls (0.106; P=0.04). No significant difference was found in the high-risk familial (0.102) or sporadic cases (0.109; P=0.83 and 0.83, respectively). TGFBR1(*)6A carrier status was further associated with a high-grade sporadic breast cancer (odds ratio: 2.27; 95% confidence interval: 1.01-5.11; P=0.049). These results indicate that the TGFBR1(*)6A variant may be associated with an increased risk of low-risk familial breast cancer and might be a marker for poorly differentiated breast cancer. The Int7G24A variant was not associated with breast cancer risk or clinical presentation of the disease including prognosis in our material.

• Authors: B Song, S Margolin, J Skoglund, X Zhou, J Rantala, S Picelli, B Werelius, A Lindblom
• Journal: British journal of cancer (Br J Cancer) Vol. 97 Issue 8 Pg. 1175-9 (Oct 22 2007) ISSN: 0007-0920 [Print] England
• PMID: 17848956 (Publication Type: Journal Article)

Chemical References

• Protein Isoforms
• Receptors, Transforming Growth Factor beta
• Protein Serine-Threonine Kinases
• Receptor, Transforming Growth Factor-beta Type I
• TGFBR1 protein, human

Topics

• Adult
• Aged
• Aged, 80 and over
• Breast Neoplasms (genetics, pathology)
• Female
• Genetic Predisposition to Disease
• Genotype
• Humans
• Male
• Middle Aged
• Neoplasm Staging
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Protein Isoforms (genetics)
• Protein Serine-Threonine Kinases (genetics)
• Receptor, Transforming Growth Factor-beta Type I
• Receptors, Transforming Growth Factor beta (genetics)
• Risk Factors
• Sweden (epidemiology)