The clinical management of BRCA1 and BRCA2 mutation carriers

@article{Gulati2006TheCM,
  title={The clinical management of BRCA1 and BRCA2 mutation carriers},
  author={Anthony Paul Gulati and Susan M. Domchek},
  journal={Current Oncology Reports},
  year={2006},
  volume={10},
  pages={47-53}
}
Mutations in the cancer susceptibility genes BRCA1 and BRCA2 are associated with significantly increased risks of breast and ovarian cancer. Fortunately, effective strategies are available to reduce these risks, including genetic testing, which is an important consideration in determining management of patients with a strong family history of cancer. This article reviews the current evidence for risk-reducing strategies in BRCA1 and BRCA2 mutation carriers and outlines future research… 
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TLDR
The criteria to decide when to run the testing for the genes BRCA1 andBRCA2 is explored, as well as the implications for the treatment of patients who are identified with them.
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Evidence indicating surgical interventions are superior to increased surveillance and preventive medications for breast cancer and associated cancers in women with BRCA gene mutations is revealed.
Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population
TLDR
The guidelines reported below adhere to the current trends in DNA analysis and clinical healthcare, define the criteria for diagnostic laboratories, conditions for genetic testing and determine indications for selection of HBOC families and further clinical management of mutation carriers.
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Digital mammography images in the craniocaudal view from 297 women, 154 without breast cancer and 143 with unilateral breast cancer, were analyzed and menopause status was used as a surrogate of cumulative endogenous hormonal exposure.
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TLDR
The observed differences in parenchymal texture features between pre- and post- menopausal women suggest that mammographic texture can potentially serve as a surrogate imaging marker of endogenous hormonal activity.
The influence of genetic factors on brain plasticity and recovery after neural injury.
TLDR
Understanding genetic variation gives clinicians a biological signal that could be used to predict who is most likely to recover from neural injury, to choose the optimal treatment for a patient, or to supplement rehabilitation therapy.
DCPIP (2,6-dichlorophenolindophenol) as a genotype-directed redox chemotherapeutic targeting NQO1*2 breast carcinoma
TLDR
In a murine xenograft model of human homozygous NQO1*2-breast carcinoma, systemic administration of DCPIP displayed significant anti-tumour activity, suggesting feasibility of redox chemotherapeutic intervention targeting the NQM*2 genotype.
Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

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