Walsh E M, Farrell M P, Nolan C, Gallagher F, Clarke R, McCaffrey J A, Kennedy M J, Barry M, Kell M R, Gallagher D J
Medical Oncology Department, Mater Misericordiae University Hospital, Dublin 7, Ireland.
Cancer Genetics Service, Mater Misericordiae and Mater Private Hospitals, Dublin 7, Ireland.
Ir J Med Sci. 2016 Feb;185(1):189-94. doi: 10.1007/s11845-015-1267-8. Epub 2015 Feb 12.
High-risk breast cancer screening for BRCA1/2 mutation carriers with clinical breast exam, mammography and MRI has reported sensitivity of 100 %, but BRCA1/2 mutation carriers still present with interval cancers.
We investigated the presentation and screening patterns of an Irish cohort of BRCA1/2 mutation carriers with breast cancer.
BRCA1/2 mutation carriers with breast cancer were identified in this retrospective cohort study. Records were reviewed for BRCA1/2 mutation status, demographics, screening regimen, screening modality, stage and histology at diagnosis.
Fifty-three cases of breast cancer were diagnosed between 1968 and 2010 among 60 Irish hereditary breast ovarian cancer (HBOC) families. In 50 of 53 women, the diagnosis of breast cancer predated the identification of BRCA1/2 mutations. Breast cancer detection method was identified in 47 % of patients (n = 25): 80 % (n = 20) by clinical breast exam (CBE), 12 % by mammography (n = 3), 8 % by MRI (n = 2). Fourteen women (26 %) developed a second breast cancer. Ten of these patients (71 %) were involved in regular screening; 50 % were detected by screening mammography, 20 % by MRI and 30 % by CBE alone. Six patients (43 %) had a change in morphology from first to second breast cancers. There was no change in hormone receptor status between first and second breast cancers.
In this cohort of Irish BRCA1/2 mutation carriers, compliance with screening was inconsistent. There was a 30 % incidence of interval cancers occurring in women in high-risk screening. Preventive surgery may be a more effective risk reduction strategy for certain high-risk women.
对携带BRCA1/2基因突变者进行高危乳腺癌筛查，采用临床乳腺检查、乳房X线摄影和磁共振成像，报告的敏感度为100%，但携带BRCA1/2基因突变者仍会出现间期癌。
我们调查了爱尔兰一组携带BRCA1/2基因突变的乳腺癌患者的临床表现和筛查模式。
在这项回顾性队列研究中识别出携带BRCA1/2基因突变的乳腺癌患者。查阅记录，了解BRCA1/2基因突变状态、人口统计学信息、筛查方案、筛查方式、诊断时的分期和组织学类型。
在60个爱尔兰遗传性乳腺癌卵巢癌（HBOC）家族中，1968年至2010年间诊断出53例乳腺癌。在53名女性中的50名中，乳腺癌的诊断早于BRCA1/2基因突变的识别。47%的患者（n = 25）确定了乳腺癌检测方法：80%（n = 20）通过临床乳腺检查（CBE），12%通过乳房X线摄影（n = 3），8%通过磁共振成像（n = 2）。14名女性（26%）患了第二原发性乳腺癌。这些患者中有10名（71%）参加了定期筛查；50%通过筛查乳房X线摄影检测到，20%通过磁共振成像检测到，30%仅通过临床乳腺检查检测到。6名患者（43%）从第一原发性乳腺癌到第二原发性乳腺癌形态发生了变化。第一原发性乳腺癌和第二原发性乳腺癌之间激素受体状态没有变化。
在这组爱尔兰BRCA1/2基因突变携带者中，筛查依从性不一致。高危筛查的女性中间期癌的发生率为30%。对于某些高危女性，预防性手术可能是一种更有效的降低风险策略。
