■在所有亚型中,三阴性(TN)乳腺癌患者以其预后差以及携带BRCA1或BRCA2致病性突变的风险较高而闻名.这些突变的鉴定对乳腺癌和卵巢癌的预防和治疗决定具有临床影响。我们在此报告被诊断为TN亚型的阿拉伯患者中BRCA1和BRCA2突变的模式和患病率。
■TN-乳腺癌患者(n=197)无论其年龄或家族史。经过详细的遗传咨询,BRCA1/2测试在参考实验室进行。BRCA1和BRCA2变体被分类为阴性,致病性/可能致病性(阳性)和意义不确定的变异(VUS)。
■入选患者的中位年龄为42岁(范围,19-74)年和27(13.7%)是非约旦阿拉伯人。在研究小组中,50(25.4%)的BRCA1(n=36,18.3%)或BRCA2(n=14,7.1%)的检测呈阳性,而其他14名(7.1%)患有VUS。与年长的相比,40岁以下患者的突变率较高(32.9%,P=0.034),那些有乳房的近亲,卵巢,胰腺癌或前列腺癌(37.8%,P=0.002)和患有两种或两种以上乳腺癌的患者(41.4%,P=0.032)。在符合条件的患者中,23例(63.9%)患者接受预防性乳房切除术,而19例(52.8%)患者接受了降低风险的输卵管卵巢切除术。VUS患者均未接受任何预防性手术。
■患有TN-乳腺癌的阿拉伯患者具有相对较高的BRCA1或BRCA2突变率。年轻的乳腺癌诊断和个人和家族史进一步增加了这种风险。
UNASSIGNED: Among all subtypes, patients with triple-negative (TN) breast cancer is known for their poor outcome and their higher risk of harboring BRCA1 or BRCA2 pathogenic mutations. Identification of such mutations has clinical impact on breast and ovarian cancer prevention and treatment decisions. We here report on patterns and prevalence of BRCA1 and BRCA2 mutations among Arab patients diagnosed with TN subtype.
UNASSIGNED: Patients with TN-breast cancer (n=197) were enrolled regardless of their age or family history. Following a detailed genetic counseling, BRCA1/2 testing was performed at reference labs. BRCA1 and BRCA2 variants were classified as negative, pathogenic/likely pathogenic (positive) and variants of uncertain significance (VUS).
UNASSIGNED: Median age of enrolled patients was 42 (range, 19-74) years and 27 (13.7%) were non-Jordanian Arabs. Among the study group, 50 (25.4%) were tested positive for BRCA1 (n=36, 18.3%) or BRCA2 (n=14, 7.1%), while 14 (7.1%) others had VUS. Compared to older ones, mutation rates were higher among patients <40 years (32.9%, P= 0.034), those with close relatives with breast, ovarian, pancreatic or prostate cancer (37.8%, P=0.002) and those with two or more breast cancers (41.4%, P=0.032). Among eligible patients, 23 (63.9%) patients underwent prophylactic mastectomy, while 19 (52.8%) patients had risk-reducing salpingo-oophorectomy. None of the patients with VUS underwent any prophylactic surgery.
UNASSIGNED: Arab patients with TN-breast cancer have relatively high BRCA1 or BRCA2 mutation rates. Young age at diagnosis and personal and family history of breast cancer further increase this risk.