Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a<i>BRCA1</i>or<i>BRCA2</i>Mutation

Meijers-Heijboer, Hanne; Geel, Bert van; Putten, Wim L.J. van; Henzen‐Logmans, S. C.; Seynaeve, Caroline; Menke-Pluymers, Marian B. E.; Bartels, C.C.M.; Verhoog, L.C.; Ouweland, Ans M.W. van den; Niermeijer, Martinus F.; Brekelmans, C. T. M.; Klijn, Jan G.M.

doi:10.1056/nejm200107193450301

Cited by 882 publications

(426 citation statements)

References 32 publications

(39 reference statements)

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“…Two recent studies involving BRCA mutation carriers demonstrated similar findings. Meijers-Heijboer et al 6 found that 50% of BRCA mutation carriers (4 of 8) who chose to undergo close surveillance rather than prophylactic mastectomy developed interval breast carcinoma; these interval malignancies were discovered 2-5 months after normal findings were noted on screening mammography. Similarly, Scheuer et al 11 reported that 6 of 12 patients (50%) developed interval breast carcinoma, which became evident 6 -10 months after normal findings were observed on screening mammography.…”

Section: Discussionmentioning

confidence: 99%

“…4 -6 Nonetheless, in spite of the debate regarding survival benefit, widespread adoption of the published breast carcinoma screening guidelines has led to earlier detection of breast malignancies and to the detection of a larger proportion of these malignancies in a noninvasive stage. 6,7 Over the last decade, with the advent of genetic testing, two major genes associated with increased susceptibility to breast carcinoma-breast cancer susceptibility gene 1 (BRCA1) and breast cancer susceptibility gene 2 (BRCA2)-have been identified. Mutations in these genes confer a 60 -85% lifetime risk of developing breast carcinoma.…”

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confidence: 99%

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The development of interval breast malignancies in patients with BRCA mutations

Komenaka

Ditkoff²,

Joseph³

et al. 2004

Cancer

146

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BACKGROUNDAt present, there is no consensus regarding how frequently BRCA mutation carriers should be screened for malignancies using breast imaging techniques. An interval malignancy is defined as a malignancy that becomes evident during the period between annual screening mammography scans; the finding of such a malignancy indicates that the malignancy either went undetected by the last breast imaging scan or developed during the interval since that last scan.METHODSThe authors retrospectively reviewed the medical charts of all BRCA mutation carriers who were followed by the genetic counselor at the Columbia‐Presbyterian Comprehensive Breast Center (New York, NY) between September 1995 and September 2002.RESULTSThirteen BRCA mutation carriers elected to undergo close surveillance and thus were followed at our institution. Three of these 13 patients (23%) did not develop breast carcinoma, 4 (31%) developed breast carcinoma that was detected at the time of annual screening, and 6 (46%) developed palpable interval malignancies in less than 12 months. Among the six patients who developed interval malignancies, the mean time between the last screening mammogram and disease presentation was 5.1 months (range, 2–9 months); the average tumor size in this patient subgroup was 1.7 cm (range, 0.8–3 cm). Two of these six patients had ductal carcinoma in situ, whereas the remaining four had invasive breast carcinoma; three patients had positive lymph nodes at presentation. All six patients who developed interval disease exhibited dense breast tissue on the previous mammogram. Focused breast ultrasonography was able to identify the tumor mass in 3 of 4 patients (75%).CONCLUSIONSNearly half of all BRCA‐positive women who chose to undergo close surveillance in the current study developed malignant disease less than a year after exhibiting normal findings on screening mammography. Half of these interval malignancies were positive for lymph node involvement. These results suggest that strong consideration should be given to screening BRCA‐positive women at more frequent intervals and to using additional imaging techniques, such as breast ultrasonography and/or breast magnetic resonance imaging, as a part of this screening. Cancer 2004. © 2004 American Cancer Society.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

The development of interval breast malignancies in patients with BRCA mutations

Komenaka

Ditkoff²,

Joseph³

et al. 2004

Cancer

146

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“…Identification of these individuals before they present with cancer is important since prophylactic surgery can reduce morbidity and mortality in these individuals (Struewing et al, 1995;Rebbeck et al, 1999;Hartmann et al, 1999;Hartmann et al, 2001;Meijers-Heijboer et al, 2001;Kauff et al, 2002;Rebbeck et al, 2004). Unfortunately, genetic testing is expensive, family history of breast cancer is common and BRCA mutations are rare (Ford et al, 1994;Peto et al, 1999;Antoniou et al, 2002).…”

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confidence: 99%

Evaluation of models to predict BRCA germline mutations

et al. 2006

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The selection of candidates for BRCA germline mutation testing is an important clinical issue yet it remains a significant challenge. A number of risk prediction models have been developed to assist in pretest counselling. We have evaluated the performance and the inter-rater reliability of four of these models (BRCAPRO, Manchester, Penn and the Myriad-Frank). The four risk assessment models were applied to 380 pedigrees of families who had undergone BRCA1/2 mutation analysis. Sensitivity, specificity, positive and negative predictive values, likelihood ratios and area under the receiver operator characteristic (ROC) curve were calculated for each model. Using a greater than 10% probability threshold, the likelihood that a BRCA test result was positive in a mutation carrier compared to the likelihood that the same result would be expected in an individual without a BRCA mutation was 2.10 (95% confidence interval (CI) 1.66 -2.67) for Penn, 1.74 (95% CI 1.48 -2.04) for Myriad, 1.35 (95% CI 1.19 -1.53) for Manchester and 1.68 (95% CI 1.39 -2.03) for BRCAPRO. Application of these models, therefore, did not rule in BRCA mutation carrier status. Similar trends were observed for separate BRCA1/2 performance measures except BRCA2 assessment in the Penn model where the positive likelihood ratio was 5.93. The area under the ROC curve for each model was close to 0.75. In conclusion, the four models had very little impact on the pre-test probability of disease; there were significant clinical barriers to using some models and risk estimates varied between experts. Use of models for predicting BRCA mutation status is not currently justified for populations such as that evaluated in the current study.

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“…Some asymptomatic women carrying germline mutations in BRCA1 or BRCA2 genes undergo prophylactic bilateral mastectomy and/or salpingo-oophorectomy to reduce their risk of developing breast and/or ovarian cancer (Meijers-Heijboer et al, 2001;Stefanek et al, 2001;Rebbeck et al, 2002). Others are offered periodic clinical examination and breast imaging (mammography, ultrasound and magnetic resonance imaging).…”

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Impact of familial risk factors on management and survival of early-onset breast cancer: a population-based study

et al. 2005

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This population-based study evaluates the impact of a strong family history of breast cancer on management and survival of women with early-onset disease. We identified all breast cancer patients p50 years, recorded between 1990 and 2001 at the Geneva familial breast cancer registry. We compared patients at high familial risk and low familial risk in terms of tumour characteristics, method of detection, treatment, survival and breast cancer mortality risk. Compared to patients at low familial risk (n ¼ 575), those at high familial risk (n ¼ 58) received significantly more often systemic therapy, especially for node-negative or receptor-positive disease. Five-year disease-specific survival rates of patients at high vs low familial risk were 86 and 90%, respectively. After adjustment, there was no difference in breast cancer mortality in general. A strong family history nonsignificantly increased breast cancer mortality in patients p40 years (adjusted hazard ratio (HR) 4.0, 95% CI 0.8 -19.7) and in patients treated without chemotherapy (adjusted HR 2.7, 95% CI 0.6 -12.5). A strong family history of breast cancer is associated with an increased use of systemic therapy in early-onset patients. Although a strong family history does not seem to affect survival in general, it may impair survival of very young patients and patients treated without adjuvant chemotherapy. Owing to the limited number of patients in this study, these results should be used only to generate hypotheses.

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Breast Cancer after Prophylactic Bilateral Mastectomy in Women with aBRCA1orBRCA2Mutation

Abstract: In women with a BRCA1 or BRCA2 mutation, prophylactic bilateral total mastectomy reduces the incidence of breast cancer at three years of follow-up.

Cited by 882 publications

References 32 publications

The development of interval breast malignancies in patients with BRCA mutations

The development of interval breast malignancies in patients with BRCA mutations

Evaluation of models to predict BRCA germline mutations

Impact of familial risk factors on management and survival of early-onset breast cancer: a population-based study

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