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Literature Selection

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  • "Models for predicting the presence of  mutations in the BRCA1 and BRCA2 genes" - Giovanni Parmigiani, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, Baltimore, MD, USA

    "Models for predicting the presence of  deleterious mutations in the BRCA1 and BRCA2 genes are generally  reliable, and can be used in clinical activities. The models that  incorporate knowledge of how the genes are transmitted tend to provide a better discrimination, although that comes at the cost of a  somewhat more extensive data collection. One important caveat is that none of the models should be used  mechanically by applying a threshold on the probability across all  individuals. The main reason is that carriage probability is only one  of the several considerations thas should enter the decision about  seeking genetic testing. For a general oncology practice, the BRCAPRO model shows a distinct  advantage in terms of discriminating people who will test positive  from people who will not in the population-based portion of our  study. However, other models such as FHAT and Myriad are easier to  implement and may be preferable for practical reasons, especially in  the context of referring patient from primary care clinics to  counseling clinics, where a more in-depth evaluation of the family  history can be performed. (...)".
    (Comment on paper:  Parmigiani G et al.: "Validity of models for predicting BRCA1 and BRCA2 mutations", Ann Intern Med. 2007 Oct 2;147(7):441-50)

"This study is of interest since it demonstrates that the prognosis of young breast cancer patients is significantly improved by adjuvant chemotherapy in hormone receptor negative tumors but not in young breast cancer patients that have hormone receptor positive tumors. This study is unique in that its results were not influenced by the effects of endocrine therapy, which was not administered to these women. (...). Therefore, in young women with estrogen-receptor positive breast cancer, adjuvant chemotherapy without endocrine therapy with or without ovarian function suppression is inadequate treatment. Current prospective trials concerning this subject are studying whether or not adjuvant treatment strategies consisting of endocrine therapy with ovarian function suppression but without chemotherapy yield similar or even better results in terms of survival compared to treatment strategies with chemotherapy. (...)".
(Comment on paper:  van der Hage JJ et al.: "Efficacy of adjuvant chemotherapy according to hormone receptor status in young patients with breast cancer: a pooled analysis", Breast Cancer Res. 2007 Oct 11;9(5):R70 [Epub ahead of print])

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