Weitzel Jeffrey N, Robson Mark, Pasini Barbara, Manoukian Siranoush, Stoppa-Lyonnet Dominique, Lynch Henry T, McLennan Jane, Foulkes William D, Wagner Teresa, Tung Nadine, Ghadirian Parviz, Olopade Olufunmilayo, Isaacs Claudine, Kim-Sing Charmaine, Møller Pal, Neuhausen Susan L, Metcalfe Kelly, Sun Ping, Narod Steven A
The Centre for Research in Women's Health, 790 Bay Street, Toronto, Ontario, Canada M5G 1N8.
Cancer Epidemiol Biomarkers Prev. 2005 Jun;14(6):1534-8. doi: 10.1158/1055-9965.EPI-05-0070.
Women with breast cancer and a BRCA mutation have a high risk of developing a contralateral breast cancer. It is generally believed that the two cancers represent independent events. However, the extent of concordance between the first and second tumors with respect to hormone receptor expression and other pathologic features is unknown.
To determine the degree of concordance of estrogen receptor (ER) status, tumor grade, and histology in tumors from women with bilateral breast cancer and a BRCA mutation.
Women with a history of bilateral invasive breast cancers were selected from an international registry of women with BRCA1 or BRCA2 mutations. Medical records were reviewed to document the characteristics of each cancer and the treatments received.
Data were available for 286 women with bilateral breast cancer and a BRCA mutation (211 BRCA1; 75 BRCA2). The mean interval between first and second tumor was 5.1 years. The two tumors were concordant more often than expected for ER status (P < 0.0001) and for grade (P < 0.0001), but not for histology (P = 0.55). The ER status of the first tumor was highly predictive of the ER status of the second tumor (odds ratio, 8.7; 95% confidence interval, 3.5-21.5; P < 0.0001). Neither age, menopausal status, oophorectomy nor tamoxifen use was predictive of the ER status of the second tumor.
There is strong concordance in ER status and tumor grade between independent primary breast tumors in women with a BRCA mutation. The excess concordance may be due to common risk factors, genetic variation, or the existence of a preneoplastic lesion that is common to both tumors.
患有乳腺癌且携带BRCA突变的女性发生对侧乳腺癌的风险很高。一般认为这两种癌症是独立事件。然而,关于第一和第二肿瘤在激素受体表达及其他病理特征方面的一致程度尚不清楚。
确定双侧乳腺癌且携带BRCA突变的女性肿瘤中雌激素受体(ER)状态、肿瘤分级和组织学的一致程度。
从一个BRCA1或BRCA2突变女性的国际登记处选取有双侧浸润性乳腺癌病史的女性。查阅医疗记录以记录每种癌症的特征及所接受的治疗。
有286例双侧乳腺癌且携带BRCA突变的女性的数据可用(211例BRCA1;75例BRCA2)。第一和第二肿瘤之间的平均间隔时间为5.1年。对于ER状态(P<0.0001)和分级(P<0.0001),这两种肿瘤的一致性比预期更常见,但对于组织学(P = 0.55)并非如此。第一肿瘤的ER状态高度预测第二肿瘤的ER状态(优势比,8.7;95%置信区间,3.5 - 21.5;P<0.0001)。年龄、绝经状态、卵巢切除术及他莫昔芬的使用均不能预测第二肿瘤的ER状态。
携带BRCA突变的女性独立原发性乳腺癌之间在ER状态和肿瘤分级方面存在很强的一致性。这种额外的一致性可能是由于共同的风险因素、基因变异或两种肿瘤共有的癌前病变的存在。