Fanconi anemia and vaginal squamous cell carcinoma

Fanconi Anemia (FA) is an autosomal recessive disease characterized by chromosome instability, cellular hypersensitivity to DNA cross-linking agents, and increased predisposition to malignancies. We describe here a 28 year-old female with FA and vaginal squamous cell carcinoma treated by radiation therapy alone. The patient developed arm phlebitis, pulmonary fungal infection, and severe rectal bleeding, followed by hypocalcaemia, hypokalemia, vaginal bacterial and fungal infection, with subsequent leg and arm phlebitis, perineal abscess, and sepsis. The patient died 12 weeks later

Physical Activity and Differential Methylation of Breast Cancer Genes Assayed from Saliva: A Preliminary Investigation

PURPOSE: Individuals who exercise are at lower risk for breast cancer and have better post-diagnosis outcomes. The biological mechanisms behind this association are unclear, but DNA methylation has been suggested. METHODS: We developed a composite measure of DNA methylation across 45 CpG sites on genes selected a priori. We examined the association of this measure to self-reported physical activity and objectively measured cardiovascular fitness in a sample of healthy nonsmoking adults (n = 64) in an exercise promotion intervention. RESULTS: Individuals who were more physically fit and who exercised more minutes per week had lower levels of DNA methylation. Those who increased their minutes of physical activity over 12 months experienced decreases in DNA methylation. CONCLUSIONS: DNA methylation may be a mechanism linking exercise and cancer incidence, and could serve as a biomarker for behavioral intervention trials. Studies with larger samples, objectively measured exercise, and more cancer-related markers are needed