Selection bias influences reported contralateral breast cancer incidence and survival in high risk non-BRCA1/2 patients

Tilanus-Linthorst, Madeleine M.A.; Bartels, Karina C.M.; Alves, Celina; Bakri, Bonnie; Crepin, Ellen; Ouweland, Ans van den; Klijn, Jan G.M.; Meijers-Heijboer, Hanne; Brekelmans, C. T. M.

doi:10.1007/s10549-005-9054-2

Cited by 20 publications

(24 citation statements)

References 21 publications

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“…These were detailed by Klaren [17], and include mainly longevity or survival bias and ascertainment bias. Tilanus-Linthorst [18] showed the effect of survival and ascertainment bias in a study comparing survival and contralateral breast cancer in women with non- BRCA familial breast cancer; these findings are relevant to BRCA mutation carriers as well. In that study, women were divided into two groups according to the timing of BRCA mutation testing (less or more than 2 years from diagnosis) and compared to cases without mutations.…”

Section: Discussionmentioning

confidence: 99%

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

Menes

Terry

Goldgar

et al. 2015

Breast Cancer Res Treat

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Purpose BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) mutation carriers diagnosed with breast cancer are at increased risk of developing a second primary breast cancer. Data from high risk clinics may be subject to different biases which can cause both over and underestimation of this risk. Using data from a large multi-institutional family registry we estimated the 10 year cumulative risk of second primary breast cancer including more complete testing information on family members. Patients and Methods We prospectively followed 800 women diagnosed with breast cancer from the Breast Cancer Family Registry (BCFR) who were carriers of a BRCA1 or BRCA2 pathogenic mutation or a variant of unknown clinical significance. In order to limit survival and ascertainment bias, cases were limited to those diagnosed with a first primary breast cancer from 1994 to 2001 and enrolled in the BCFR within 3 years after their cancer diagnosis; We excluded women enrolled after being diagnosed with a second breast cancer. We calculated 10 year incidence of second primary breast cancers. Results The 10-year incidence of a second primary breast cancer was highest in BRCA1 mutation carriers (17%; 95% CI 11-25%), with even higher estimates in those first diagnosed under the age of 40 (21%; 95% CI 13-34%). Lower rates were found in BRCA2 mutation carriers (7%; 95% CI 3-15%) and women with a variant of unknown clinical significance (6%; 95% CI 4-9%). Conclusions Whereas the cumulative 10-year incidence of second primary breast cancer is high in BRCA1 mutation carriers, the estimates in BRCA2 mutation carriers and women with variants of unknown clinical significance are similar to those reported in women with sporadic breast cancer.

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Section: Discussionmentioning

confidence: 99%

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

Menes

Terry

Goldgar

et al. 2015

Breast Cancer Res Treat

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“…Most of the studies included female patients from genetic counselling clinics [15e17,24,26e29,31e36,38], which makes selection bias plausible because breast cancer is more prevalent among mutation carriers included in genetic screening programs [58,59]. Also, high-risk families are more likely to be diagnosed with breast cancer earlier because they are usually included in cancer surveillance programs [58]. The majority of the studies only included women who survived breast cancer and who had undergone a BRCA genetic testing [15,24,26e30,32e37].…”

Section: Discussionmentioning

confidence: 99%

Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis

et al. 2014

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“…While the risk for second primaries has been studied in BRCA1 or BRCA2 mutation carriers, preliminary data indicate that the risk of contralateral breast cancer is not significantly elevated in patients with familial breast cancer, who tested negative for BRCA1/2 mutations [12,13]. Despite these data and although the latter group accounts for the majority of women with familial breast cancer, there is a rising demand for prophylactic bilateral or prophylactic contralateral mastectomy in these women [14,15].…”

Section: Introductionmentioning

confidence: 99%

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

et al. 2012

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IntroductionWhile it has been reported that the risk of contralateral breast cancer in patients from BRCA1 or BRCA2 positive families is elevated, little is known about contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations.MethodsA retrospective, multicenter cohort study was performed from 1996 to 2011 and comprised 6,235 women with unilateral breast cancer from 6,230 high risk families that had tested positive for BRCA1 (n = 1,154) or BRCA2 (n = 575) mutations or tested negative (n = 4,501). Cumulative contralateral breast cancer risks were calculated using the Kaplan-Meier product-limit method and were compared between groups using the log-rank test. Cox regression analysis was applied to assess the impact of the age at first breast cancer and the familial history stratified by mutation status.ResultsThe cumulative risk of contralateral breast cancer 25 years after first breast cancer was 44.1% (95%CI, 37.6% to 50.6%) for patients from BRCA1 positive families, 33.5% (95%CI, 22.4% to 44.7%) for patients from BRCA2 positive families and 17.2% (95%CI, 14.5% to 19.9%) for patients from families that tested negative for BRCA1/2 mutations. Younger age at first breast cancer was associated with a higher risk of contralateral breast cancer. For women who had their first breast cancer before the age of 40 years, the cumulative risk of contralateral breast cancer after 25 years was 55.1% for BRCA1, 38.4% for BRCA2, and 28.4% for patients from BRCA1/2 negative families. If the first breast cancer was diagnosed at the age of 50 or later, 25-year cumulative risks were 21.6% for BRCA1, 15.5% for BRCA2, and 12.9% for BRCA1/2 negative families.ConclusionsContralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations is similar to the risk in patients with sporadic breast cancer. Thus, the mutation status should guide decision making for contralateral mastectomy.

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Selection bias influences reported contralateral breast cancer incidence and survival in high risk non-BRCA1/2 patients

Abstract: Overall survival and contralateral breast cancer incidence were similar in 'unselected' non-BRCA1/2- and sporadic patients. Reports of higher CBC incidence and better survival in non-BRCA1/2 patients may substantially be caused by DNA testing selection-bias.

Cited by 20 publications

References 21 publications

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

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