Yerushalmi Rinat, Rizel Shulamith, Zoref Dalia, Sharon Eran, Eitan Ram, Sabah Gad, Grubstein Ahuva, Rafson Yael, Cohen Maya, Magen Ada, Birenboim Iehudit, Margel David, Ozlavo Rachel, Sulkes Aaron, Brenner Baruch, Perry Shlomit
Institute of Oncology, Davidoff Center.
Division of Surgery, Hospital for Women, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.
Isr Med Assoc J. 2016 Sep;18(9):549-552.
Women who carry the BRCA gene mutation have an up to 80% chance of developing cancer, primarily of breast and ovarian origin. Confirmation of carrier status is described by many women as an overwhelming, life-changing event. Healthy individuals harboring a BRCA mutation constitute a high risk population with unique needs, often overlooked by health authorities. As such, we felt the need to create a specialized service dedicated specifically to this high risk population. The clinic staff comprises an experienced multidisciplinary team of health professionals who can support the medical and emotional needs of this population. Since its inception in 2001 the clinic has served 318 women. The mean age of patients is 46 years. With a median follow-up of 46 months, 21 women have developed malignancies, including 17 breast cancers, 1 ovarian cancer and 3 additional cancers. All but one of the patients above the age of 40 underwent bilateral salpingo-oophorectomy (BSO). The median and mean ages at BSO were 46.5 and 48 years, respectively (range 33-68). However, only 28.3% underwent bilateral preventive mastectomy. A multidisciplinary clinic for BRCA mutation carriers provides a "home" for this unique population with unmet needs. The high rate of BSO in women before natural menopause indicates that both the medical community and this population are aware of international guidelines supporting this procedure. We believe that a dedicated clinic, with a multidisciplinary team, is likely to contribute to the health, quality of life and survival of BRCA carriers.
携带BRCA基因突变的女性患癌几率高达80%，主要是乳腺癌和卵巢癌。许多女性称，确认携带该基因突变的状态是一件极具震撼力、改变人生的大事。携带BRCA基因突变的健康个体构成了一个有独特需求的高危人群，而这些需求往往被卫生当局忽视。因此，我们觉得有必要专门为这一高危人群创建一项特殊服务。该诊所的工作人员由经验丰富的多学科健康专业团队组成，他们能够满足这一人群的医疗和情感需求。自2001年成立以来，该诊所已为318名女性提供了服务。患者的平均年龄为46岁。中位随访时间为46个月，有21名女性患上了恶性肿瘤，其中包括17例乳腺癌、1例卵巢癌和3例其他癌症。除一名患者外，所有40岁以上的患者都接受了双侧输卵管卵巢切除术（BSO）。接受BSO手术的中位年龄和平均年龄分别为46.5岁和48岁（范围为33 - 68岁）。然而，只有28.3%的人接受了双侧预防性乳房切除术。为携带BRCA基因突变者设立的多学科诊所为这一有未满足需求的独特人群提供了一个“家”。自然绝经前女性中BSO手术的高比例表明，医学界和这一人群都了解支持该手术的国际指南。我们相信，一个配备多学科团队的专门诊所可能有助于提高携带BRCA基因者的健康水平、生活质量和生存率。
