Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000.

IF 2.7 3区 医学 Q3 ONCOLOGY
Aleksandar M Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S Pedersen, Annabeth H Petersen, Lise Lotte Christensen, Karin A W Wadt, Anne-Vibeke Lænkholm
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Abstract

Background and purpose: Despite advancements in genetic testing and expanded eligibility criteria, underutilisation of germline testing for pathogenic variants in BRCA1 and BRCA2 (BRCA) remains evident among breast cancer (BC) patients. This observational cohort study presents real-world data on BRCA testing within the context of clinical practice challenges, including incomplete family history and under-referral.

Material and methods: From the Danish Breast Cancer Group (DBCG) clinical database, we included 65,117 females with unilateral stage I-III BC diagnosed in 2000-2017, of whom 9,125 (14%) were BRCA tested. Test results spanned from 1999 to 2021. We evaluated test rates overall and in three diagnosis periods. In logistic regression models, we examined the correlation between a BRCA test and patients' age, residency region, receptor status, and diagnosis period.

Results: Test rates rose most significantly among patients aged under 40 years, increasing from 47% (2000-2005) to 88% (2012-2017), albeit with regional discrepancies. Test timing shifted in recent years, with most results within 6 months of BC diagnosis, primarily among the youngest patients. BRCA test rates were higher for oestrogen receptor-negative/human epidermal growth factor receptor 2-negative BC (25% in 2000-2005 vs. 38% in 2012-2017), and these findings were confirmed in multivariate regression models.

Interpretation: Our results indicate a critical need for an intensified focus on BRCA testing among BC patients older than 40, where a mainstreamed testing approach might overcome delayed or missed testing. Current DBCG guidelines recommend BRCA testing of all BC patients younger than 50 years, while a general recommendation for older patients is still missing.

丹麦浸润性乳腺癌后的生殖系BRCA检测:2000年以来的进展。
背景和目的:尽管在基因检测和扩大的资格标准方面取得了进展,但在乳腺癌(BC)患者中,BRCA1和BRCA2 (BRCA)致病性变异的种系检测仍未充分利用。这项观察性队列研究在临床实践挑战的背景下提供了BRCA检测的真实数据,包括不完整的家族史和转诊不足。材料和方法:从丹麦乳腺癌组(DBCG)临床数据库中,我们纳入了2000-2017年诊断为单侧I-III期BC的65,117名女性,其中9,125名(14%)进行了BRCA检测。测试结果从1999年持续到2021年。我们评估了总体和三个诊断期的测试率。在logistic回归模型中,我们检验了BRCA检测与患者年龄、居住地、受体状态和诊断期之间的相关性。结果:40岁以下患者的检测率上升最为显著,从47%(2000-2005年)上升到88%(2012-2017年),尽管存在地区差异。近年来,检测时间发生了变化,大多数结果在BC诊断后6个月内,主要是在最年轻的患者中。雌激素受体阴性/人表皮生长因子受体2阴性BC的BRCA检测率更高(2000-2005年为25%,2012-2017年为38%),这些发现在多变量回归模型中得到证实。解释:我们的研究结果表明,在40岁以上的BC患者中,迫切需要加强对BRCA检测的关注,主流检测方法可能会克服延迟或错过的检测。目前的DBCG指南建议对50岁以下的所有BC患者进行BRCA检测,而对老年患者的一般建议仍然缺失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Acta Oncologica
Acta Oncologica 医学-肿瘤学
CiteScore
4.30
自引率
3.20%
发文量
301
审稿时长
3 months
期刊介绍: Acta Oncologica is a journal for the clinical oncologist and accepts articles within all fields of clinical cancer research. Articles on tumour pathology, experimental oncology, radiobiology, cancer epidemiology and medical radio physics are also welcome, especially if they have a clinical aim or interest. Scientific articles on cancer nursing and psychological or social aspects of cancer are also welcomed. Extensive material may be published as Supplements, for which special conditions apply.
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