Cancer
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An overview of the state of genetic testing for BRCA1 and BRCA2 genes was presented at the Summit Meeting on Breast Cancer Among African American women. ⋯ Deleterious BRCA1 and BRCA2 mutations have been identified in African-American and African families. A number of unique mutations have been described, but recurrent mutations are widely dispersed and are not readily identifiable in the few families that have been tested. Access to genetic counseling and testing in a culturally sensitive research setting must remain a high priority before genetic testing can be disseminated in the community.
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African-American women are at higher risk for breast cancer mortality compared with their white counterparts. Furthermore, African-American women present for diagnosis and treatment later in the disease process. It may be expected that this greater disease burden would impose more symptoms compared with women who present with earlier stage disease. However, the effect of breast cancer on the quality of life of African-American women largely has been unexplored. ⋯ Physicians and other health care providers must be educated better about pain management and hospice care and, in turn, must inform their patients better about these issues. Physicians' and researchers' considerations of the influence of race and ethnicity on quality of life are critical. Furthermore, future research should be focused on the establishment of a standardized measure for quality of life that better encompasses its social, spiritual, and emotional aspects. Quality-of-life measures should be incorporated into routine health surveillance mechanisms, with an increased emphasis on minority and other under-served populations.
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Comparative Study
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.
BRCA1 and BRCA2 alterations are associated with an increased risk of developing breast carcinoma. The authors hypothesized that the progression of breast neoplasia may differ between patients with hereditary disease and patients with nonhereditary disease and that this difference in progression may be visualized by studying the prevalence of precursor lesions and neoplastic lesions. ⋯ The current data suggest that the progression rate of breast neoplasia is accelerated in women who carry BRCA1/2 deleterious mutations compared with other patients who have breast carcinoma with or without a family history. This increased progression rate should be taken into account when considering the surveillance of asymptomatic women.
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A prospectively applied treatment policy for breast-conserving therapy used margin assessment as the exclusive guide to the intensity of radiation therapy directed at the tumor bed. ⋯ Graded tumor bed dose escalation in response to FMS results in very low rates of local failure over the first 5 years for all FMS categories. However, tumors with close/positive margins have significantly increased local failure rates after 5 years of follow-up even with increased radiation boost dose. In addition, graded tumor bed dose escalation does not fully overcome the adverse influence of young age.
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The authors evaluated the outcome of patients with rhabdomyosarcoma (RMS) who were treated with three-dimensional (3D) conformal radiation therapy (RT) at a single institution. ⋯ High rates of local control were achieved in patients with RMS using 3D RT. Regional lymph node failure was increased significantly among patients with alveolar histology. Control of metastatic disease remains a formidable problem for patients with Stage IV RMS.