Management Updates for Women with a BRCA1 or BRCA2 Mutation

Nusbaum, Rachel; Isaacs, Claudine

doi:10.1007/bf03256234

Cited by 30 publications

(19 citation statements)

References 81 publications

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“…Biglia et al (2008) Review -no pooling [18] Figueiredo et al (2008) No effect on breast cancer after COC use for carrier women or women with familial risk is published [19] Bermejo-Perez et al (2007) Review -no pooling [20] Nusbaum et al (2007) Review -no pooling [21] Friedman et al (2005) Review -no pooling [22] Grenader et al (2005) Review -no pooling [23] Jernstrom et al (2005) No effect on breast cancer after COC use for carrier women or women with familial risk is published [24] Kaduri et al (1999) No effect on breast cancer after COC use for carrier women or women with familial risk is published [25] COC: Combined oral contraceptive. For personal use only.…”

Section: Study (Year)mentioning

confidence: 97%

“…Publications that did not report on effect of COCs on breast cancer in BRCA1/2 mutation carriers or women with familial risk were excluded from further analysis (Table 3) [18][19][20][21][22][23][24][25]. Few other studies had to be excluded as they did not fulfil inclusion criteria, especially those that did not include data on BRCA status (Table 4) [10, [26][27][28][29][30][31][32][33][34][35][36][37][38][39].…”

Section: Breast Cancermentioning

confidence: 99%

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Oral contraceptives and risk of ovarian and breast cancers inBRCAmutation carriers: a meta-analysis

Cibula

Zikán

Dušek

et al. 2011

Expert Review of Anticancer Therapy

105

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Prophylactic salpingo-oophorectomy is currently the only effective strategy available for decreasing ovarian cancer risk in BRCA1/2 mutation carriers. Significantly decreased risk of ovarian cancer associated with the use of combined oral contraceptives (COCs) was shown in the general population, which could be an alternative approach for those who do not accept risk-reducing surgery. Cohort, case-control and case-case studies published in English up to December 2009 reporting the association of ovarian or breast cancer risk with the use of COCs and presenting BRCA status were selected for meta-analysis. Meta-analysis of three case-control studies showed a significant risk reduction of ovarian cancer in BRCA1/2 mutation carriers who were associated with any past COC use (odds ratio [OR]: 0.57; 95% CI: 0.47-0.70; p < 0.001) and significant trend by duration of COC use (OR: 0.95; 95% CI: 0.93-0.97; p < 0.001). No significant increase in breast cancer risk associated with COC use has been found in case-control studies in BRCA1 (OR: 1.08; p = 0.250), in BRCA2 (OR: 1.03; p = 0.788) mutation carriers or in case-case studies in BRCA1/2 carriers (OR: 0.80; p = 0.147). Significantly increased risk of breast cancer was only shown on a subset of cohort studies in BRCA1 mutation carriers (OR: 1.48; 95% CI: 1.14-1.92). In conclusion, meta-analysis confirmed significantly decreased ovarian cancer risk in BRCA1/2 mutation carriers associated with the use of COCs comparable to the relative extent shown in the general population. Data on the risk of breast cancer associated with COC use in BRCA mutation carriers are heterogeneous and results are inconsistent. COCs can be considered as an alternative strategy in the chemoprevention of ovarian cancer in BRCA1 mutation carriers who do not accept prophylactic salpingo-oophorectomy above the age of 30 years.

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Section: Study (Year)mentioning

confidence: 97%

Section: Breast Cancermentioning

confidence: 99%

Oral contraceptives and risk of ovarian and breast cancers inBRCAmutation carriers: a meta-analysis

Cibula

Zikán

Dušek

et al. 2011

Expert Review of Anticancer Therapy

105

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“…Currently, the treatment of breast cancer in women with BRCA1 or BRCA2 mutations does not differ from the treatment in women with sporadic breast cancer (7). However, trials of poly(ADP-ribose) polymerase inhibitors and platinum-versus taxane-based chemotherapy are under way in patients with metastatic BRCA1-and BRCA2-related breast cancer, aiming to exploit impaired DNA damage response pathways (8).…”

mentioning

confidence: 99%

Impaired Tamoxifen Metabolism Reduces Survival in Familial Breast Cancer Patients

Newman

Hadfield

Latif

et al. 2008

Clinical Cancer Research

106

108

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Purpose: Tamoxifen has been the mainstay adjuvant hormonal treatment for breast cancer for many years. Conversion of tamoxifen to its active metabolite, endoxifen, is reduced by low activity of the cytochrome P450 enzyme, CYP2D6.We examined the effect of reduced CYP2D6 activity on the response to tamoxifen in patients with familial early-onset breast cancer. Experimental Design: We conducted a case note review and genotyping for the CYP2D6*3, CYP2D6*4, CYP2D6*5, and CYP2D6*41 alleles in 115 patients (47 BRCA1, 68 BRCA2) with familial breast cancer who had been treated with 20-mg tamoxifen following surgery. Results: Eight (7%) individuals had genotypes consistent with poor metabolizer status, and 4 (3.5%) individuals took CYP2D6 inhibitor drugs concomitant with their tamoxifen and were also considered poor metabolizer. Time to tumor recurrence, disease-free survival, and overall survival were reduced in the patient group with poor metabolizer CYP2D6 activity. However, a significant effect was confined to patients with BRCA2 mutations with a worse overall survival (median survival, 7 versus 28 years; P = 0.008; adjusted hazard ratio, 9.7). Conclusions: Poor metabolizer status for CYP2D6 predicts worse overall survival in patients with familial breast cancer. Therefore, CYP2D6 inhibitor drugs should not be prescribed concomitantly with tamoxifen. Prospective studies should be undertaken to establish the effect of CYP2D6 status on outcome in familial breast cancer patients treated with tamoxifen.Breast cancer is the most common cancer in females, with more than 1 million women worldwide diagnosed every year (1). In the United States, f170,000 new diagnoses of invasive breast cancer are expected in 2007 (2). Familial susceptibility to breast cancer accounts for f10% to 25% of all breast cancer cases, with the majority of high risk familial breast cancer cases due to mutations in the BRCA1 and BRCA2 genes (3, 4). The lifetime risks for developing breast cancer are 65% to 85% and 45% to 85% for BRCA1 and BRCA2 mutation carriers, respectively (5). In addition, BRCA1 and BRCA2 mutation carriers have increased lifetime risks of ovarian cancer of 37% to 62% and 11% to 23%, respectively (6). Importantly, breast cancer due to BRCA1 and BRCA2 mutations accounts for a disproportionately high number of life-years lost because of the early onset of disease.Currently, the treatment of breast cancer in women with BRCA1 or BRCA2 mutations does not differ from the treatment in women with sporadic breast cancer (7). However, trials of poly(ADP-ribose) polymerase inhibitors and platinum-versus taxane-based chemotherapy are under way in patients with metastatic BRCA1-and BRCA2-related breast cancer, aiming to exploit impaired DNA damage response pathways (8). Often, the presence of a BRCA1 or BRCA2 mutation is unknown at the time of primary treatment and so is unavailable to guide treatment decisions (9). In the majority of studies, ipsilateral and contralateral breast cancer rates of recurrence have been increased in women w...

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“…Carriers of germline mutations in the susceptibility genes for breast cancer, BRCA1 and BRCA2, are particularly at risk of developing breast cancer (3), and the same has been observed in Brazil (4).…”

Section: Introductionmentioning

confidence: 83%

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

Esteves

Thuler

Amendola

et al. 2009

Braz J Med Biol Res

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Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.

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Management Updates for Women with a BRCA1 or BRCA2 Mutation

Cited by 30 publications

References 81 publications

Oral contraceptives and risk of ovarian and breast cancers inBRCAmutation carriers: a meta-analysis

Oral contraceptives and risk of ovarian and breast cancers inBRCAmutation carriers: a meta-analysis

Impaired Tamoxifen Metabolism Reduces Survival in Familial Breast Cancer Patients

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

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