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综上所述,对卵巢癌患者进行基因检测并筛查出致病性突变,可以帮助医生对患者进行精准治疗,同时,对患者子女或其他一级亲属进行遗传咨询,可以使基因突变携带者得到及时干预,这将极大提高卵巢癌的早期诊断率,并降低疾病发病率。BRCA突变卵巢癌患者对PARP抑制剂反应更佳,对于携带胚系/体系BRCA突变的卵巢癌患者,尽早开始PARP抑...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
miki y, swensen j, shattuck-eidens d, et al. a strong candidate for the breast and ovarian cancer susceptibility gene brca1[j]. science, 1994, 266(5182): 66-71. doi:10.1126/science.7545954 [2] wooster r, big...
Thus, we investigated the association between height, weight, changes in body weight, and BMI, and the risk of developing ovarian cancer among 938 women carrying a BRCA1 or BRCA2 mutation. A matched case-control study was conducted in 469 pairs of women carrying a deleterious mutation in ...
[2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402-2416. doi:10.1001/jama.2017.7112 [3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA...
[6]. Lønning PE, Nikolaienko O, Pan K, et al. Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer [published online ahead of print, 2022 Sep 8]. JAMA Oncol. 2022;e223846. doi:10.1001/jamaoncol.2022.3846 ...
BRCA1 (breast and ovarian cancer susceptibility protein 1) is a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor in combination with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein compl...
Prajzendanc K, Baszuk P, Lubiński J, Jakubowska A. Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor. Hered Cancer Clin Pract. 2022 Mar 21;20(1):11. doi: 10.1186/s13053-022-00218-0. PMID: 35313928; PMCID: ...
研究证实,携带生殖细胞BRCA1基因突变的女性患者发生上皮性卵巢癌,特别是高级别浆液性卵巢癌 (high-grade serous ovarian cancer, HGSOC) 的风险明显升高。在所有的卵巢癌患者中,约有4%-10%患者会携带生殖细胞BRCA1基因突变,而包括PALB2、BRIP1...