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… 

Predisposición genética para el cáncer de mama: genes BRCA1 y BRCA2

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.

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.

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.

Radiologic Education Mammographic Parenchymal Patterns as an Imaging Marker of Endogenous Hormonal Exposure : A Preliminary Study in a High-Risk Population

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.

Mammographic parenchymal texture as an imaging marker of hormonal activity: a comparative study between pre- and post-menopausal women

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.

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

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.



Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2

Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset, and risks appear to be increasing with time.

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.

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.

Cancer Susceptibility and the Functions of BRCA1 and BRCA2

Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.

  • T. RebbeckT. Friebel 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%.

The role of BRCA1 in the cellular response to chemotherapy.

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.

Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

  • A. EisenJ. Lubiński S. Narod
  • Medicine, Biology
    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.

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.

Prophylactic mastectomy for BRCA1/2 carriers: progress and more questions.

If your patient decides to have prophylactic mastectomy, do not leave substantial breast tissue behind, and the findings support the procedure’s efficacy, as well as identifying the control group and the weakest link in this study.