Breast cancer survival in carriers of BRCA1 and BRCA2 mutations

Rennert, G.; Bisland, Stuart K.; Joseph, Nuradh; Zhang, S.; Rennert, Gad; Barnett‐Griness, Ofra; Narod, SA

doi:10.1200/jco.2007.25.18_suppl.10552

Cited by 5 publications

(8 citation statements)

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“…Our results were in broad agreement with more recent studies, although others had reported conflicting results. [27][28][29][30][31][32] The percentage of BRCA-associated patients in our study (12.6%) was similar to a prior prospective cohort study, 33 The bold values derived from univariated analysis indicate that BRCA-mutation status and menopausal status might attribute to risk of contralateral breast cancer (CBC), however, only BRCA-mutation status confer to the independent risk factor of CBC.…”

Section: Discussionsupporting

confidence: 85%

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Huang

Lang

et al. 2020

Cancer Medicine

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Purpose Previous studies provide inconsistent interpretations of the effect of inherited genetic factors on the survival and prognosis of patients with breast cancer. The aim of this study was to examine the effect of germline BRCA1 and BRCA2 mutation on survival and subsequent breast events in Chinese women who underwent breast‐conserving surgery. Methods A retrospective review of the clinical and pathological records was performed in patients diagnosed with primary invasive breast cancer between 2005 and 2018 in the cancer registry database. Clinicopathological data and data regarding treatment and outcomes, including date and site of disease progression, were collected. The survival outcomes and independent risk factors were conducted using SPSS. Results Overall, a total of 501 patients who underwent breast‐conserving surgery were identified and subjected to analyses, of which 63 cases with BRCA1 or BRCA2 mutation. The median age at diagnosis was 41 (range, 24‐74) for carriers and 37 (range, 17‐84) for noncarriers. After a median follow‐up time of 61 months (range, 8‐161) and 70 months (range, 0‐153), respectively, in carriers and noncarriers, the overall survival (P = .173) and disease‐free survival (P = .424) were not significantly different. Analogously, there was no significant difference between the two groups about the outcomes of ipsilateral breast tumor recurrence (P = .348), yet the contralateral breast cancer (CBC) was overt worse than noncarriers (P < .001). When adjusted to confounding factors, BRCA mutation was the only independent risk factors to CBC (HR = 7.89, P = .01). Conclusion In this study, BRCA mutation carriers have higher risk of CBC. And, BRCA mutation is the only independent risk factor to CBC. Therefore, intensive surveillance and follow‐up as well as more effective individual prevention are urgent. Decisions on alternatively effective prevention, especially the prevention of CBC, are urgent and should take into account patient prognosis and preferences.

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Section: Discussionsupporting

confidence: 85%

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Huang

Lang

et al. 2020

Cancer Medicine

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“…Several studies show better response to chemotherapy in BRCA1 carriers, the majority of whom had triple negative tumors and high grade disease; contradictory results were observed in BRCA2 carriers. 2,4,12,13 Whether hormone positive tumors in BRCA carriers respond better to chemotherapy remains to be determined.…”

Section: What's New?mentioning

confidence: 99%

“…Up to 10% of breast cancers (BC) are attributed to pathogenic mutations in the BRCA1 and BRCA2 genes. 1,2 While the majority of BC in BRCA1 carriers is triple negative, the rate of estrogen receptor (ER) positive BC in these patients is not negligible. Analysis of over 6000 BCs from BRCA carriers reported ER positive rates of 22% and 77%, among BRCA1 and BRCA2 mutation carriers, respectively.…”

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confidence: 99%

“…3 Additional studies report similar rates of 20-30% ER positive BCs in BRCA1 carriers and 45-72% ER positive BCs in BRCA2 carriers. 2,4,5 Whether ER positive BC in BRCA1 carriers is a sporadic event or related to the BRCA1 mutation is not clear. Hormone receptor positive BC among BRCA2 carriers is frequently characterized by a higher grade than tumors in noncarriers.…”

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confidence: 99%

“…Rennert et al reports similar outcomes for BRCA positive and negative BC patients when corrected to hormone receptor status and stage. 2 Gene expression assays are widely used to assess prognosis and guide treatment decisions among early BC patients.…”

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confidence: 99%

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Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer

Halpern

Sonnenblick

Uziely

et al. 2017

Intl Journal of Cancer

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Gene expression assays are widely used to predict risk of recurrence in early breast cancer (BC). We report the 21-gene expression assay (Oncotype Dx) recurrence score (RS) distribution of 27 BRCA carriers with estrogen receptor (ER) positive BCs, identified at Hadassah Medical Center, combined with 2 previous studies. Treatment decision and outcomes of the 27 BRCA carriers were compared with an Israeli cohort of 1594 patients published recently. We found Oncotype Dx RS low (<18), intermediate (18-30) and high (>30) among 12 (21.4%), 23 (41.1%) and 21 (37.5%) of 56 BRCA1 carriers compared with 15 (17.2%), 49 (56.3%) and 23 (26.4%) of 87 BRCA2 carriers (p = 0.2). The corresponding distribution in a population of 82,434 women published by Genomic Health was 53.4%, 36.3% and 10.3% for low, intermediate and high RS (p < 0.001 for BRCA1 and BRCA2). Treatment decision regarding chemotherapy according to RS was similar in BRCA1, BRCA2 and the control group. Two of 27 carriers had distant recurrence: a BRCA1 carrier with RS of 18 and a BRCA2 carrier with RS of 22; both have an excellent response to chemotherapy. We found an approximately ∼3 fold increased rate of high RS among BRCA1 and 2 carriers with ER positive BC compared with the general BC population. These data might indicate that hormone positive BC in BRCA carriers are molecularly unique. The surprisingly good response to chemotherapy in the metastatic setting in 2 patients may suggest that the predictive value of low-intermediate RS in carriers merits further studies.

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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

et al. 2009

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Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and genetic characteristics of GD at presentation were examined in a cross-sectional study. In addition, the relative risk (RR) of cancer in patients compared with age-, sex-, and ethnic-group adjusted national rates of cancer was determined. Of the 403 patients, 54% of patients were homozygous (N370S/N370S) and 46% were compound heterozygous for the N370S mutation (N370S/other). The majority of N370S/N370S patients displayed a phenotype characterized by late onset, predominantly skeletal disease, whereas the majority of N370S/other patients displayed early onset, predominantly visceral/hematologic disease, P < 0.0001. There was a striking increase in lifetime risk of multiple myeloma in the entire cohort (RR 25, 95% CI 9.17-54.40), mostly confined to N370S homozygous patients. The risk of other hematologic malignancies (RR 3.45, 95% CI 1.49-6.79), and overall cancer risk (RR 1.80, 95% CI 1.32-2.40) was increased. Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers. High incidence of gammopathy suggests an important role of the adaptive immune system in the development of GD. Adult patients with GD should be monitored for skeletal disease and cancers including multiple myeloma. Am. J. Hematol. 84:208-214, 2009. V

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Breast cancer survival in carriers of BRCA1 and BRCA2 mutations

Cited by 5 publications

References 0 publications

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

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