BackgroundGenetic testing for hereditary cancer syndromes has been revolutionized by next-generation sequencing, which allows for simultaneous review of numerous genes. Multigene panels are regularly offered to patients because of their scope and decreased cost and turnaround time. However, many genes included on larger panels have not been studied as extensively as BRCA1 and BRCA2 (BRCA1/2), and their clinical effects are often not as well established.MethodsWe identified patients who received positive test results for pathogenic variants of breast cancer genes from January 2012 through May 2018. We mailed a survey and conducted qualitative interviews to explore the personal and health care experiences of patients with pathogenic variants of BRCA1/2 and patients with “other” (ie, non-BRCA1/2 or PALB2; PTEN; ATM; TP53; NBM, RAD51C; MSH6) variants. We compared the experiences of these patients.ResultsFifty-nine out of 128 individuals responded to the survey (46%). Thirty-two patients had BRCA1/2 variants, and 27 had other variants. (49 women and 10 men; median [range] age, 63 [34–87] years). We interviewed 21 patients (17 women and 4 men; median [range] age, 59.6 [34–82] years). Of the interview participants, ten patients had BRCA1/2 variants, and 11 had non-BRCA1/2 variants. Patients reported receiving poor information about their genetic test results, and they often educated their physicians about their results. Some patients believed that they had been ignored or “brushed off” by health care professionals because non-BRCA1/2 genes are less understood outside the genetics research community. Patients with BRCA1/2 variants had similar problems with health care providers, despite increased awareness and established guidelines about BRCA1/2.ConclusionsResearch is required to understand the clinical significance and proper management of diseases attributable to newly characterized hereditary cancer genes. Additional evaluation of patient and provider education should be at the forefront of efforts to improve patient care.

中文翻译：

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BRCA1和BRCA2以外的乳腺癌致病变异患者：关于医疗保健经验的定性访谈

背景遗传性癌症综合征的基因检测已经被下一代测序彻底改变，它允许同时审查许多基因。多基因面板因其范围广、成本降低和周转时间而定期提供给患者。然而，包含在较大面板中的许多基因并未像 BRCA1 和 BRCA2 (BRCA1/2) 那样被广泛研究，并且它们的临床效果通常没有得到很好的确定。方法我们确定了乳腺癌基因致病变异检测结果呈阳性的患者从 2012 年 1 月到 2018 年 5 月。我们邮寄了一项调查并进行了定性访谈，以探索 BRCA1/2 致病性变异患者和“其他”患者（即非 BRCA1/2 或 PALB2；PTEN ; ATM; TP53; NBM, RAD51C; MSH6) 变体。我们比较了这些患者的经历。结果 128 人中有 59 人对调查做出了回应（46%）。32 名患者有 BRCA1/2 变异，27 名有其他变异。（49 名女性和 10 名男性；中位 [范围] 年龄，63 [34-87] 岁）。我们采访了 21 名患者（17 名女性和 4 名男性；中位 [范围] 年龄，59.6 [34-82] 岁）。在访谈参与者中，10 名患者患有 BRCA1/2 变异，11 名患有非 BRCA1/2 变异。患者报告说他们的基因检测结果信息很差，他们经常向医生介绍他们的结果。一些患者认为他们被医疗保健专业人员忽视或“抹杀”，因为在遗传学研究界之外对非 BRCA1/2 基因的了解较少。BRCA1/2 变异的患者与医疗保健提供者有类似的问题，尽管提高了对 BRCA1/2 的认识并制定了指导方针。结论需要进行研究以了解新发现的遗传性癌症基因引起的疾病的临床意义和适当管理。对患者和提供者教育的额外评估应该是改善患者护理工作的最前沿。