Background: The prevalence ofBARD1mutations in breast and ovarian cancers varies across different ethnic groups. Evaluating the cancer risk and clinical significance ofBARD1mutations in the local Chinese patients with breast cancer, ovarian cancer, or both is clinically important for designing an appropriate surveillance scheme. Methods: This study used a 30 gene panel to identifyBARD1germline mutations in 2658 breast and ovarian cancer patients. Results: Among this cohort, theBARD1mutation prevalence was 0.45% for breast cancer and 0.29% for ovarian cancer. In our 12 mutation carriers, we identified eight types of mutation variants, including three novel mutations.BARD1mutation carriers were more likely to have a family history of liver, prostate, and cervical cancers (p-values = 0.004, 0.018, and 0.037, respectively) than patients who tested negative for mutations. Among theBARD1mutants, the majority of the breast tumors were invasive ductal carcinoma (NOS type) (10/11, 90.9%) of high-grade disease (9/9, 100%) and half of them were triple-negative breast cancer (5/10, 50%). Conclusions: Although the prevalence ofBARD1mutations is low and the penetrance is incomplete, we recommend includingBARD1in the test panel for breast cancer patients. Our data suggest that more comprehensive surveillance management may be considered in mutation carriers due to the familial aggregation of a relatively wide spectrum of cancers.
背景：BARD1基因突变在乳腺癌和卵巢癌中的发生率在不同种族群体中存在差异。评估中国本土乳腺癌、卵巢癌或两者兼有患者中BARD1基因突变的癌症风险及临床意义，对于制定合适的监测方案具有重要临床价值。方法：本研究采用30基因检测组合对2658例乳腺癌和卵巢癌患者进行BARD1种系突变检测。结果：在该队列中，BARD1突变在乳腺癌患者中的发生率为0.45%，在卵巢癌患者中为0.29%。在12例突变携带者中，我们鉴定出8种突变类型，其中包括3种新型突变。与突变检测阴性患者相比，BARD1突变携带者更可能具有肝癌、前列腺癌和宫颈癌家族史（p值分别为0.004、0.018和0.037）。在BARD1突变携带者中，绝大多数乳腺肿瘤为高级别浸润性导管癌（非特殊类型）（10/11，90.9%），其中9例可分级病例均为高级别（9/9，100%），且半数表现为三阴性乳腺癌（5/10，50%）。结论：尽管BARD1突变发生率较低且外显不完全，我们仍建议将BARD1纳入乳腺癌患者的检测组合。我们的数据表明，由于突变携带者家族中存在相对广泛谱系癌症的聚集现象，应考虑对其采取更全面的监测管理策略。
GermlineBARD1Mutation in High-Risk Chinese Breast and Ovarian Cancer Patients
肿瘤(癌症)患者之家