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61岁及以上三阴性乳腺癌女性中的乳腺癌相关致病变异

Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.

作者信息

Chávarri-Guerra Yanin, Marcum Catherine A, Hendricks Carolyn B, Wilbur Deborah, Cescon Terrence, Hake Christopher, Abugattas Julio, Rodriguez Yenni, Villarreal-Garza Cynthia, Yang Kai, Cervantes Aleck, Sand Sharon, Castillo Danielle, Herzog Joseph, Mokhnatkin Janet, Sedrak Mina S, Soto-Perez-de-Celis Enrique, Weitzel Jeffrey N

机构信息

Department of Hemato-Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

CHI Memorial Rees Skillern Cancer Risk and Survivorship Center, Chattanooga, United States.

出版信息

J Geriatr Oncol. 2021 Jun;12(5):749-751. doi: 10.1016/j.jgo.2020.11.008. Epub 2020 Dec 1.

Abstract

UNLABELLED

Women with triple negative breast cancer (TNBC) have a high prevalence of BRCA1 mutations, and current clinical guidelines recommend genetic testing for patients with TNBC aged ≤60 years. However, studies supporting this recommendation have included few older women with TNBC.

METHODS

Genetic testing results from women aged >60 years with TNBC enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) registry were included in this analysis. Prevalence of breast cancer-associated pathogenic variants (PVs) was compared across age groups.

RESULTS

We identified 151 women with TNBC aged >60 years (median 65 years; SD 5.3). Of these, 130 (86%) underwent genetic testing, and a breast cancer-associated PV was identified in 16 (12.3%; 95% CI 7-19): BRCA1 (n = 6), BRCA2 (n = 5), PALB2 (n = 2), ATM (n = 1) and RAD51C (n = 2). We found no differences in the proportion of patients with close blood relatives with breast (≤50 years) or ovarian cancer (any age) between PV carriers (37.5%) and non-carriers (34.2%) (p = 0.79). Among PV's carriers, the proportion of older women with a BRCA1 PV was lower when compared to younger women (37.5% vs 77.2%; p < 0.01).

CONCLUSION

Breast cancer-associated PVs were found in an important proportion of women aged >60 years with TNBC undergoing genetic testing, including greater representation of BRCA2. These results suggest that older women with TNBC should be offered genetic testing, and that their exclusion based on chronologic age alone may not be appropriate.

摘要

未标注

三阴性乳腺癌(TNBC)女性中BRCA1突变的患病率较高,目前的临床指南建议对年龄≤60岁的TNBC患者进行基因检测。然而,支持这一建议的研究纳入的老年TNBC女性较少。

方法

本分析纳入了临床癌症基因组学社区研究网络(CCGCRN)登记处登记的年龄>60岁的TNBC女性的基因检测结果。比较了各年龄组乳腺癌相关致病变异(PVs)的患病率。

结果

我们确定了151例年龄>60岁的TNBC女性(中位年龄65岁;标准差5.3)。其中,130例(86%)接受了基因检测,16例(12.3%;95%可信区间7-19)检测到乳腺癌相关PV:BRCA1(n = 6)、BRCA2(n = 5)、PALB2(n = 2)、ATM(n = 1)和RAD51C(n = 2)。我们发现PV携带者(37.5%)和非携带者(34.2%)中,有患乳腺癌(≤50岁)或卵巢癌(任何年龄)近亲的患者比例没有差异(p = 0.79)。在PV携带者中,老年女性中携带BRCA1 PV的比例低于年轻女性(37.5%对77.2%;p < 0.01)。

结论

在接受基因检测的年龄>60岁的TNBC女性中,有相当比例发现了乳腺癌相关PV,包括BRCA2的比例更高。这些结果表明,老年TNBC女性应接受基因检测,仅基于年龄将她们排除可能不合适。

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