In patients receiving radiotherapy for breast cancer where the heart is within the radiation field, cutaneous telangiectasiae could be a marker of potential radiation-induced heart disease. We ...hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could predispose to such late, normal tissue vascular damage.
The relationship between cutaneous telangiectasia as a late normal tissue radiation injury phenotype in 633 breast cancer patients treated with radiotherapy was examined. Patients were clinically assessed for the presence of cutaneous telangiectasia and genotyped at nine SNPs in three candidate genes. Candidate SNPs were within the endoglin (ENG) and activin A receptor, type II-like 1 (ACVRL1) genes, mutations in which cause hereditary hemorrhagic telangiectasia and the ataxia-telangiectasia mutated (ATM) gene associated with ataxia-telangiectasia.
A total of 121 (19.1%) patients exhibited a degree of cutaneous telangiectasiae on clinical examination. Regression was used to examine the associations between the presence of telangiectasiae in patients who underwent breast-conserving surgery, controlling for the effects of boost and known brassiere size (n=388), and individual geno- or haplotypes. Inheritance of ACVRL1 SNPs marginally contributed to the risk of cutaneous telangiectasiae. Haplotypic analysis revealed a stronger association between inheritance of a ATM haplotype and the presence of cutaneous telangiectasiae, fibrosis and overall toxicity. No significant association was observed between telangiectasiae and the coinheritance of the candidate ENG SNPs.
Genetic variation in the ATM gene influences reaction to radiotherapy through both vascular damage and increased fibrosis. The predisposing variation in the ATM gene will need to be better defined to optimize it as a predictive marker for assessing radiotherapy late effects.
Abstract Many genes have been associated with radiotherapy toxicity, but most have only been found in a single study. Using our cohort of 480 breast cancer patients, we provide replicated evidence ...that a polymorphism near the LIG3 gene is associated with acute skin toxicity following radiotherapy.
In the United States, lobbying from influential patient groups led to $100 million being diverted from the defence budget to breast cancer treatment and care. Evelyn Lauder, of the cosmetics company, ...has raised $17 million for breast cancer research and treatment in the United States and is helping to coordinate a campaign involving British charities, media, and fashion companies to support Breast Cancer Awareness Month.
The Diary of a Breast Peat, Irene M
BMJ,
07/1995, Letnik:
311, Številka:
6999
Journal Article
Recenzirano
The Diary of a Breast Elisa Seagrave Faber, pounds sterling9.99, pp 287, ISBN 0 571 17446 9 Talk of an epidemic of breast cancer may seem alarmist, but in the United Kingdom alone the current death ...rate equals the loss of a fully occupied jumbo jet every week. Why, she wonders, has there been no notable increase in survival rates despite the widespread screening of premenopausal women and the switch from the $7000 mastectomy to the $30 000 lumpectomy with adjuvant radiotherapy and chemotherapy, which is now standard policy.
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