[1]	Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020:GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries[J]. CA Cancer J Clin, 2021, 71(3):209-249. DOI:10.3322/caac.21660. Cited in this article [1]

[2]	Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast,Ovarian,and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers[J]. JAMA, 2017, 317(23):2402-2416. DOI:10.1001/jama.2017.7112. Cited in this article [1]

[3]	中国医师协会微无创医学专业委员会妇科肿瘤学组, 中国抗癌协会中西整合卵巢癌专业委员会. 铂敏感复发性卵巢癌诊治中国专家共识(2023年版)[J]. 中国实用妇科与产科杂志, 2023, 39(9):935-942. DOI:10.19538/j.fk2023090117. Cited in this article [1]

[4]	Dinneen K, Arora R. Molecular Testing in Ovarian Tumours: Challenges from the Pathologist's Perspective[J]. Diagnostics (Basel). 2023, 13(12):2072. DOI:10.3390/diagnostics13122072. Cited in this article [1]

[5]	Szabo CI, King MC. Population genetics of BRCA1 and BRCA2[J]. Am Journal of Hum Genet, 1997, 60(5):1013-1020. Cited in this article [1]

[6]

Bozsik A, Pócza T, Papp J, et al. Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center[J]. Int Journal of Mol Sci, 2020, 21(13):4650. DOI:10.3390/ijms21134650. Cited in this article [1]

[7]	Sun Z, Bai C, Su M, et al. Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis[J]. Mol Oncol. 2023, 17(9):1917-1929. DOI:10.1002/1878-0261.13430. Cited in this article [1]

[8]	Cao WM, Zheng YB, Gao Y, et al. Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women[J]. BMC cancer, 2019, 19(1):551. DOI:10.1186/s12885-019-5765-3. Cited in this article [2]

[9]	Kwong A, Chen J, Shin VY, et al. The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer[J]. Cancer Genet, 2015, 208(9):448-454. DOI:10.1016/j.cancergen.2015.05.031. Cited in this article [1]

[10]	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. Cited in this article [1]

[11]	Li S, Silvestri V, Leslie G, et al. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants[J]. J Clin Oncol, 2022, 40(14):1529-1541. DOI:10.1200/JCO.21.02112. Cited in this article [1]

[12]	Farmer H, McCabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy[J]. Nature, 2005, 434(7035):917-921. DOI:10.1038/nature03445. Cited in this article [1]

[13]	Bryant HE, Schultz N, Thomas HD, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase[J]. Nature, 2005, 434(7035):913-917.DOI:10.1038/nature03443. Cited in this article [1]

[14]	Audeh MW, Carmichael J, Penson RT, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer:a proof-of-concept trial[J]. Lancet, 2010, 376(9737):245-251.DOI:10.1016/S0140-6736(10)60893-8. Cited in this article [1]

[15]	汪军坚, 张玢琪, 朱笕青. PARP抑制剂在中国卵巢癌患者中的应用[J]. 中国实用妇科与产科杂志, 2022, 38(4):476-480. DOI:10.19538/j.fk2022040121. Cited in this article [1]

[16]	Bolton KL, Chenevix-Trench G, Goh C, et al. Association be tween BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer[J]. JAMA, 2012, 307(4):382-390. DOI:10.1001/jama.2012.20. Cited in this article [1]

[17]	倪孟冬, 吴小华. 晚期卵巢癌新辅助化疗联合间歇性肿瘤细胞减灭术[J]. 中国实用妇科与产科杂志, 2023, 39(7):701-706. DOI:10.19538/j.fk2023070107. Cited in this article [1]

[18]	Clark SL, Rodriguez AM, Snyder RR, et al. Structure-Function Of The Tumor Suppressor BRCA1[J]. Compu Struct Biotechnol J, 2012, 1(1):e201204005. DOI:10.5936/csbj.201204005. Cited in this article [1]

[19]	Mishra AP, Sahu S, Sharan SK. Coiled-Coil Domain:Uncoiling Tumor Suppression by BRCA1[J]. Cancer Res, 2021, 81(24):6080-6082. DOI:10.1158/0008-5472.CAN-21-3480. Cited in this article [1]

[20]	Lee M, Daniels MJ, Garnett MJ, et al. A mitotic function for the high-mobility group protein HMG20b regulated by its interaction with the BRC repeats of the BRCA2 tumor suppressor[J]. Oncogene. 2011, 30(30):3360-3369.DOI:10.1038/onc.2011.55. Cited in this article [1]

[21]

Labidi-Galy SI, Rodrigues M, Sandoval JL, et al. Association of location of BRCA1 and BRCA2 mutations with benefit from olaparib and bevacizumab maintenance in high-grade ovarian cancer:phase Ⅲ PAOLA-1/ENGOT-ov25 trial subgroup exploratory analysis[J]. Ann Oncol, 2023, 34(2):152-162. DOI:10.1016/j.annonc.2022.11.003. Cited in this article [1]

[22]	Wang Y, Bernhardy AJ, Nacson J, et al. BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance[J]. Nat Commun, 2019, 10(1):5661.DOI:10.1038/s41467-019-13530-6. Cited in this article [1]

[23]	Thompson D, Easton D. The genetic epidemiology of breast cancer genes[J]. J Mammary Gland Biol Neoplasia, 2004, 9(3):221-236. DOI:10.1023/B:JOMG.0000048770.90334.3b. Cited in this article [1]

[24]	Puget N, Torchard D, Serova-Sinilnikova OM, et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17[J]. Cancer Res, 1997, 57(5):828-831. Cited in this article [1]

[25]	Puget N, Gad S, Perrin-Vidoz L, et al. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot[J]. Am J Hum Genet, 2002, 70(4):858-865. DOI:10.1086/339434. Cited in this article [1]

[26]	Kim DH, Chae H, Jo I, et al. Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea[J]. BMC Med Genet, 2017, 18(1):38. DOI:10.1186/s12881-017-0398-3. Cited in this article [2]

[27]	Rudnicka H, Debniak T, Cybulski C, et al. Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families[J]. Mol Biol Rep, 2013, 40(12):6619-6623. DOI:10.1007/s11033-013-2775-0. Cited in this article [2]

[28]

Ticha I, Kleibl Z, Stribrna J, et al. Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients:high proportion of population specific alterations in BRCA1 gene[J]. Breast Cancer Res Treat, 2010, 124(2):337-347. DOI:10.1007/s10549-010-0745-y. Cited in this article [2]

[29]	Yazıcı H, Kılıç S, Akdeniz D, et al. Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer[J]. Eur J Breast Health, 2018, 14(2):93-99. DOI:10.5152/ejbh.2017.3799. Cited in this article [2]

[30]	James PA, Sawyer S, Boyle S, et al. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features[J]. Fam Cancer, 2015, 14(2):287-295. DOI:10.1007/s10689-015-9785-0. Cited in this article [2]

[31]	Ewald IP, Cossio SL, Palmero EI, et al. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome[J]. Genet Mol Biol, 2016, 39(2):223-231. DOI:10.1590/1678-4685-GMB-2014-0350. Cited in this article [2]

[32]	Stadler ZK, Saloustros E, Hansen NAL, et al. Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families[J]. Breast Cancer Re Treat, 2010, 123(2):581-585. DOI:10.1007/s10549-010-0818-y. Cited in this article [1]

[33]

Leite RD, Ashton-Prolla P, Rosset C. Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes:importance of a comprehensive molecular diagnosis[J]. Expert Revi Mol Diagn, 2022, 22(3):319-346. DOI:10.1080/14737159.2022.2049247. Cited in this article [1]

[34]	中国抗癌协会家族遗传性肿瘤专业委员会. 中国家族遗传性肿瘤临床诊疗专家共识(2021年版)(2)——家族遗传性卵巢癌[J]. 中国肿瘤临床, 2021, 48(24):1243-1247. DOI:10.12354/j.issn.1000-8179.2021.20211800. Cited in this article [1]

[35]	Daly MB, Pilarski R, Yurgelun MB, et al. NCCN Guidelines Insights:Genetic/Familial High-Risk Assessment:Breast,Ovarian,and Pancreatic,Version 1.2020[J]. J Natl Compr Canc Netw, 2020, 18(4):380-391.DOI:10.6004/jnccn.2020.0017. Cited in this article [1]

[36]	Nicolussi A, Belardinilli F, Silvestri V, et al. Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data[J]. PeerJ, 2019, 7:e7972. DOI:10.7717/peerj.7972. Cited in this article [1]

[37]	李璡, 温灏, 刘淑娟, 等. 2023年中国卵巢癌诊疗现状白皮书[J]. 中国实用妇科与产科杂志, 2023, 39(12):1225-1232. DOI:10.19538/j.fk2023120116. Cited in this article [1]

[38]	倪丽, 王莹莹, 朱晨辰, 等. 卵巢癌高风险患者行预防性手术105例临床资料分析[J]. 中国实用妇科与产科杂志, 2025, 41(7):738-741. DOI:10.19538/j.fk2025070115. Cited in this article [1]

[39]	中国老年保健协会妇科肿瘤专业委员会, 中国医师协会妇产科医师分会.卵巢癌早期筛查中国专家共识(2025年版)[J]. 中国实用妇科与产科杂志, 2025, 41(2):204-211. DOI:10.19538/j.fk2025020113. Cited in this article [1]