Menkiszak Janusz, Chudecka-Głaz Anita, Gronwald Jacek, Cymbaluk-Płoska Aneta, Celewicz Aleksander, Świniarska Maria, Wężowska Małgorzata, Bedner Ryszard, Zielińska Dorota, Tarnowska Paulina, Jakubowicz Jerzy, Kojs Zbigniew
Department of Gynecological Surgery and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, SPSK-2, 70-111 Szczecin Al. Powstańców Wielkopolskich 72, Szczecin, Poland.
Department of Genetics and Pathology; International Hereditary Cancer Center, Pomeranian Medical University, Al. Powstańców Wielkopolskich 72, 70-111, Szczecin, Poland.
J Ovarian Res. 2016 Feb 29;9:11. doi: 10.1186/s13048-016-0220-4.
There are no effective methods of diagnosis of early-stage ovarian cancer. Conservative care over patients at high risk of ovarian and breast cancers is ineffective. Prophylactic surgery is considered the best prophylaxis among BRCA1/BRCA2 carriers.
One hundred ninety-five patients, carriers of one of three most common mutations of the BRCA1 gene (Am J Hum Genet: 66: (6)1963-1968, 2000) in the Polish population (5382insC, 4153delA and C61G), who undergone prophylactic salpingo-oophorectomy. The study group consisted of consecutive mutation carriers living in Poland, in the West Pomeranian province. Histopathological examination of the surgical material failed to reveal presence of malignancy.
During follow-up we diagnosed two peritoneal cancers and 14 breast cancers. Diagnosis of breast cancer before prophylactic surgery increased the risk of peritoneal cancer almost three times. Time from diagnosis of breast cancer to prophylactic surgery increased the risk of peritoneal cancer after prophylactic surgery. This was strongly expressed (HR = 5.0; p = 0.030) in cases of over five-year-long delay in prophylactic surgery. Diagnosis of breast cancer before prophylactic surgery correlated with the risk of death (p = 0.00010). Presence of 5382insC mutation decreased and C61G mutation increased the risk of peritoneal cancer (p = 0.049 vs. p = 0.013).
Occurrence of primary peritoneal cancer after prophylactic surgery is similar to that reported in international literature. Primary breast cancer occurred less often than in international literature. We suspect that the risk of development of breast cancer among BRCA1 carriers undergoing prophylactic surgery can differ in a population. The next goal should be to study the molecular basis for the risk of development of malignancies in any population. Carriers of BRCA1 gene diagnosed with breast cancer should undergo prophylactic surgery within five years from the diagnosis of breast cancer.
目前尚无有效的早期卵巢癌诊断方法。对卵巢癌和乳腺癌高危患者进行保守治疗效果不佳。预防性手术被认为是BRCA1/BRCA2基因携带者的最佳预防措施。
195例波兰人群中携带BRCA1基因三种最常见突变之一（《美国人类遗传学杂志》：66：(6)1963 - 1968，2000年）（5382insC、4153delA和C61G）的患者接受了预防性输卵管卵巢切除术。研究组由居住在波兰西波美拉尼亚省的连续突变携带者组成。手术材料的组织病理学检查未发现恶性肿瘤。
随访期间，我们诊断出2例原发性腹膜癌和14例乳腺癌。预防性手术前诊断出乳腺癌使腹膜癌风险增加近三倍。从乳腺癌诊断到预防性手术的时间增加了预防性手术后腹膜癌的风险。在预防性手术延迟超过五年的情况下，这种情况表现强烈（风险比=5.0；p = 0.030）。预防性手术前诊断出乳腺癌与死亡风险相关（p = 0.00010）。5382insC突变的存在降低了腹膜癌风险，而C61G突变增加了腹膜癌风险（p = 0.049对p = 0.013）。
预防性手术后原发性腹膜癌的发生率与国际文献报道相似。原发性乳腺癌的发生率低于国际文献报道。我们怀疑接受预防性手术的BRCA1基因携带者中乳腺癌发生风险在不同人群中可能存在差异。下一个目标应该是研究任何人群中恶性肿瘤发生风险的分子基础。被诊断患有乳腺癌
