The clinical management of BRCA1 and BRCA2 mutation carriers

  title={The clinical management of BRCA1 and BRCA2 mutation carriers},
  author={Anthony Paul Gulati and Susan M. Domchek},
  journal={Current Oncology Reports},
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… Expand
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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. Expand
Effective preventive treatments for hereditary breast cancer
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. Expand
Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population
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. Expand
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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
The estimated breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies, and appear to be consistent with the observed prevalence of the mutations in theAshkenazi Jewish population. Expand
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.
Among patients with breast cancer and severe family histories of cancer who test negative (wild type) for BRCA1 and BRCa2, approximately 12% can be expected to carry a large genomic deletion or duplication in one of these genes, and approximately 5% could carry a mutation in CHEK2 or TP53. Expand
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Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.
  • T. Rebbeck, T. Friebel, +10 authors B. Weber
  • Medicine
  • Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2004
Bilateral prophylactic mastectomy reduces the risk of breast cancer in women with BRCA1/2 mutations by approximately 90%. Expand
Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers.
Prophylactic mastectomy is associated with a substantial reduction in the incidence of subsequent breast cancer not only in women identified as being at high risk on the basis of a family history of breast cancer but also in known BRCA1 or BRCa2 mutation carriers. Expand
Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study.
Oral contraceptives could be used as a means to prevent ovarian cancer in carriers of BRCA1 and BRCa2 mutations. Expand
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It is concluded that a loss of BRCA1 function is associated with sensitivity to DNA-damaging chemotherapy and may also be associated with resistance to spindle poisons. Expand
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.
  • A. Eisen, J. Lubiński, +17 authors S. Narod
  • Medicine
  • Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2005
Oophorectomy is an effective means of reducing the risk of breast cancer in carriers of BRCA1 mutations, and the data suggest oophoreCTomy is protective in BRCa2 carriers as well, but needs to be confirmed in other studies. Expand
Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study.
Both BRCA1/2 mutation carriers and non-carriers have reduced risk of ovarian or peritoneal cancer after gynecologic surgery, depending on the type of surgery. Expand