Expert consensus on population-based <italic style="font-style: italic">BRCA</italic> germline mutation screening in China (2024 edition)

Anti-Cancer Association Tumor Biomarker Professional Committee China; Anti-Cancer Association Tumor Biomarker Professional Committee Shanghai

doi:10.19401/j.cnki.1007-3639.2024.02.010

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Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)

Guideline and Concensus | 更新时间：2025-12-31

- Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)
- China Oncology Vol. 34, Issue 2, Pages: 220-238(2024)
- 作者机构：
- 作者简介：
- 基金信息：
  
  Shanghai Collaborative Innovation Cluster(2019CXJQ03)
- DOI：10.19401/j.cnki.1007-3639.2024.02.010
  CLC： R730.1
- Received：02 November 2023，
  
  Revised：2023-12-22，
  
  Published：29 February 2024
- 稿件说明：
移动端阅览
Anti-Cancer Association Tumor Biomarker Professional Committee China, Anti-Cancer Association Tumor Biomarker Professional Committee Shanghai. Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)[J]. China Oncology, 2024, 34(2): 220-238.
DOI：

Anti-Cancer Association Tumor Biomarker Professional Committee China, Anti-Cancer Association Tumor Biomarker Professional Committee Shanghai. Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)[J]. China Oncology, 2024, 34(2): 220-238. DOI： 10.19401/j.cnki.1007-3639.2024.02.010.

摘要

BRCA

基因（包括

BRCA

1和

BRCA

2）的胚系突变是家族性乳腺癌、卵巢癌等肿瘤的核心风险因素。在人群中，特别是已有肿瘤家族史的高危人群中，

BRCA

基因检测可以发挥预防性管理作用，有助于降低此类遗传性疾病的死亡率和社会危害。近年来基于二代测序技术的

BRCA

胚系突变检测方案逐步落地，检测可及性不断增强。为了进一步规范相关检测工作，完善中国人群中胚系突变筛查的工作流程，本共识制定小组依托中国抗癌协会肿瘤标志专业委员会和上海市抗癌协会肿瘤标志物专业委员会，采用循证医学方法，在文献检索的基础上，对目前在人群中开展

BRCA

胚系突变检测过程中所共同关注的筛查开展场景、技术方案、质量控制、结果解读与报告、遗传咨询等热点问题形成带有质量等级评价、证据综合的初步推荐意见，并采用多学科专家讨论、德尔菲问卷调查等形式，对专家意见进行调查汇总、归纳梳理和反复修改，最后形成了《基于中国人群的

BRCA

胚系突变筛查专家共识（2024年版）》，以期为中国人群的

BRCA

胚系突变筛查提供证据借鉴和规范依据，并为后续的相关指南制订奠定基础。

Abstract

Germline mutations in

BRCA

genes (including

BRCA

1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based

BRCA

gene screening

particularly in high-risk individuals with a family history of cancer

can play a preventive role by reducing mortality and societal impact of these genetic diseases. Recent years have witnessed the increasing accessibility of

BRCA

germline mutation testing based on next generation sequencing technology. To further standardize the workflow for

BRCA

germline mutation screening in the Chinese population

a consensus development group was established by the China Anti-Cancer Association Tumor Biomarker Professional Committee and the Shanghai Anti-Cancer

Association Tumor Biomarker Professional Committee. Using an evidence-based approach and building upon literature reviews

the group formulated preliminary recommendations with quality assessments and evidence synthesis regarding common concerns in the process of

BRCA

germline testing in the population

including screening scenarios

technical approaches

quality control

result interpretation and reporting

as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based

BRCA

germline mutation screening in China (2024 edition)" was developed after summarization and revision. This consensus aims to provide evidence-based guidance and regulatory foundations for

BRCA

germline mutation screening in the Chinese population and lay the groundwork for further guideline development.

关键词

Keywords

references

JEGGO P A , PEARL L H , CARR A M . DNA repair, genome stability and cancer: a historical perspective [J ] . Nat Rev Cancer , 2016 , 16 ( 1 ): 35 - 42 . DOI: 10.1038/nrc.2015.4 http://doi.org/10.1038/nrc.2015.4

NAROD S A , FOULKES W D . BRCA 1 and BRCA 2: 1994 and beyond [J ] . Nat Rev Cancer , 2004 , 4 ( 9 ): 665 - 676 . DOI: 10.1038/nrc1431 http://doi.org/10.1038/nrc1431

DALY M B , PILARSKI R , YURGELUN M B , 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 http://doi.org/10.6004/jnccn.2020.0017 https://jnccn.org/view/journals/jnccn/18/4/article-p380.xml https://jnccn.org/view/journals/jnccn/18/4/article-p380.xml

中国医师协会精准治疗委员会乳腺癌专业委员会, 中华医学会肿瘤学分会乳腺肿瘤学组, 中国抗癌协会乳腺癌专业委员会 , 等 . 中国乳腺癌患者 BRCA 1/2基因检测与临床应用专家共识(2018年版) [J ] . 中国癌症杂志 , 2018 , 28 ( 10 ): 787 - 800 . DOI: 10.19401/j.cnki.1007-3639.2018.10.011 http://doi.org/10.19401/j.cnki.1007-3639.2018.10.011

Breast cancer Professional Committee of Precision Therapy Committee of Chinese Medical Doctor Association, Breast Cancer Group of Cancer Branch of Chinese Medical Association, Breast Cancer Professional Committee of China Anti-Cancer Association , et al . Expert consensus on BRCA 1/2 gene detection and clinical application of breast cancer patients in China (2018 edition) [J ] . China Oncol , 2018 , 28 ( 10 ): 787 - 800 .

中华医学会病理学分会, 国家病理质控中心 . BRCA 1/2数据解读中国专家共识(2021版) [J ] . 中华病理学杂志 , 2021 , 50 ( 6 ): 565 - 571 .

Chinese Medical Association Pathology Branch, National Pathology Quality Control Center . Chinese expert consensus on BRCA 1/2 variant interpretation (2021 version) [J ] . Chin J Pathol , 2021 , 50 ( 6 ): 565 - 571 .

《基于下一代测序技术的 BRCA 1/2基因检测指南(版)》编写组 . 基于下一代测序技术的 BRCA 1/2基因检测指南(2019版) [J ] . 中华病理学杂志 , 2019 , 48 ( 9 ): 670 - 677 .

Writing group of guideline on next generation sequencing based BRCA gene testing . Guideline on next generation sequencing based BRCA 1/2 testing (2019) [J ] . Chin J Pathol , 2019 , 48 ( 9 ): 670 - 677 .

DONG H , CHANDRATRE K , QIN Y , et al . Prevalence of BRCA 1/ BRCA 2 pathogenic variation in Chinese Han population [J ] . J Med Genet , 2021 , 58 ( 8 ): 565 - 569 . DOI: 10.1136/jmedgenet-2020-106970 http://doi.org/10.1136/jmedgenet-2020-106970 https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2020-106970 https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2020-106970

GROUP O L O E W . The Oxford levels of evidence 2 [EB/OL ] . [ 2023-11-10 ] . https://www.cebm.ox.ac.uk/resources/levels-of-evidence/ocebm-levels-of-evidence https://www.cebm.ox.ac.uk/resources/levels-of-evidence/ocebm-levels-of-evidence https://www.cebm.ox.ac.uk/resources/levels-of-evidence/ocebm-levels-of-evidence.

HASSETT M J , SOMERFIELD M R , BAKER E R , et al . Management of male breast cancer: ASCO guideline [J ] . J Clin Oncol , 2020 , 38 ( 16 ): 1849 - 1863 . DOI: 10.1200/JCO.19.03120 http://doi.org/10.1200/JCO.19.03120

MOMOZAWA Y , SASAI , USUI Y , et al . Expansion of cancer risk profile for BRCA 1 and BRCA 2 pathogenic variants [J ] . JAMA Oncol , 2022 , 8 ( 6 ): 871 - 878 . DOI: 10.1001/jamaoncol.2022.0476 http://doi.org/10.1001/jamaoncol.2022.0476 https://jamanetwork.com/journals/jamaoncology/fullarticle/2791277 https://jamanetwork.com/journals/jamaoncology/fullarticle/2791277

MORAN A , O’HARA C , KHAN S , et al . Risk of cancer other than breast or ovarian in individuals with BRCA 1 and BRCA 2 mutations [J ] . Fam Cancer , 2012 , 11 ( 2 ): 235 - 242 . DOI: 10.1007/s10689-011-9506-2 http://doi.org/10.1007/s10689-011-9506-2 http://link.springer.com/10.1007/s10689-011-9506-2 http://link.springer.com/10.1007/s10689-011-9506-2

NETWORK N C C . NCCN guidelines version 1.2023. Breast, ovarian, and/or pancreatic cancer genetic assessment [S ] . 2023 .

SESSA C , BALMAÑA J , BOBER S L , et al . Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO clinical practice guideline [J ] . Ann Oncol , 2023 , 34 ( 1 ): 33 - 47 . DOI: 10.1016/j.annonc.2022.10.004 http://doi.org/10.1016/j.annonc.2022.10.004 https://linkinghub.elsevier.com/retrieve/pii/S092375342204193X https://linkinghub.elsevier.com/retrieve/pii/S092375342204193X

US PREVENTIVE SERVICES TASK FORCE , OWENS D K , DAVIDSON K W , et al . Risk assessment, genetic counseling, and genetic testing for BRCA -related cancer: US preventive services task force recommendation statement [J ] . JAMA , 2019 , 322 ( 7 ): 652 - 665 . DOI: 10.1001/jama.2019.10987 http://doi.org/10.1001/jama.2019.10987 https://jamanetwork.com/journals/jama/fullarticle/2748515 https://jamanetwork.com/journals/jama/fullarticle/2748515

沈松杰 , 孙强 , 黄欣 , 等 . 中国女性乳腺癌筛查指南(2022年版) [J ] . 中国研究型医院 , 2022 , 9 ( 2 ): 6 - 13 .

SHEN S J , SUN Q , HUANG X , et al . Breast cancer screening guideline for Chinese women (version 2022) [J ] . Chin Res Hosp , 2022 , 9 ( 2 ): 6 - 13 .

国家卫生健康委员会 . 卵巢癌诊疗指南(2022年版) [S ] . 2022 .

The National Health Commission . Diagnosis and treatment guidelines for ovarian cancer (2022 edition) [S ] . 2022 .

NELSON H D , HUFFMAN L H , FU R W , et al . Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the US preventive services task force [J ] . Ann Intern Med , 2005 , 143 ( 5 ): 362 - 379 . DOI: 10.7326/0003-4819-143-5-200509060-00012 http://doi.org/10.7326/0003-4819-143-5-200509060-00012 http://annals.org/article.aspx?doi=10.7326/0003-4819-143-5-200509060-00012 http://annals.org/article.aspx?doi=10.7326/0003-4819-143-5-200509060-00012

LEI H J , ZHANG M , ZHANG L Y , et al . Overview on population screening for carriers with germline BRCA mutation in China [J ] . Front Oncol , 2022 , 12 : 1002360 . DOI: 10.3389/fonc.2022.1002360 http://doi.org/10.3389/fonc.2022.1002360 https://www.frontiersin.org/articles/10.3389/fonc.2022.1002360/full https://www.frontiersin.org/articles/10.3389/fonc.2022.1002360/full

DALY M B , PAL T , BERRY M P , et al . Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology [J ] . J Natl Compr Canc Netw , 2021 , 19 ( 1 ): 77 - 102 . DOI: 10.6004/jnccn.2021.0001 http://doi.org/10.6004/jnccn.2021.0001 https://jnccn.org/view/journals/jnccn/19/1/article-p77.xml https://jnccn.org/view/journals/jnccn/19/1/article-p77.xml

GABAI-KAPARA E , LAHAD A , KAUFMAN B , et al . Population-based screening for breast and ovarian cancer risk due to BRCA 1 and BRCA 2 [J ] . Proc Natl Acad Sci U S A , 2014 , 111 ( 39 ): 14205 - 14210 . DOI: 10.1073/pnas.1415979111 http://doi.org/10.1073/pnas.1415979111 https://pnas.org/doi/full/10.1073/pnas.1415979111 https://pnas.org/doi/full/10.1073/pnas.1415979111

ZHANG L , BAO Y N , RIAZ M , et al . Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis [J ] . Genet Med , 2019 , 21 ( 9 ): 1958 - 1968 . DOI: 10.1038/s41436-019-0457-6 http://doi.org/10.1038/s41436-019-0457-6

MANCHANDA R , PATEL S , GORDEEV V S , et al . Cost-effectiveness of population-based BRCA 1, BRCA 2, RAD 51 C , RAD 51 D , BRIP 1, PALB 2 mutation testing in unselected general population women [J ] . J Natl Cancer Inst , 2018 , 110 ( 7 ): 714 - 725 . DOI: 10.1093/jnci/djx265 http://doi.org/10.1093/jnci/djx265 https://academic.oup.com/jnci/article/110/7/714/4816906 https://academic.oup.com/jnci/article/110/7/714/4816906

WATSON M , FOSTER C , EELES R , et al . Psychosocial impact of breast/ovarian ( BRCA 1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort [J ] . Br J Cancer , 2004 , 91 ( 10 ): 1787 - 1794 . DOI: 10.1038/sj.bjc.6602207 http://doi.org/10.1038/sj.bjc.6602207

HALBERT C H , STOPFER J E , MCDONALD J , et al . Long-term reactions to genetic testing for BRCA 1 and BRCA 2 mutations: does time heal women’s concerns? [J ] . J Clin Oncol , 2011 , 29 ( 32 ): 4302 - 4306 . DOI: 10.1200/JCO.2010.33.1561 http://doi.org/10.1200/JCO.2010.33.1561 https://ascopubs.org/doi/10.1200/JCO.2010.33.1561 https://ascopubs.org/doi/10.1200/JCO.2010.33.1561

EVANS O , GABA F , MANCHANDA R . Population-based genetic testing for Women’s cancer prevention [J ] . Best Pract Res Clin Obstet Gynaecol , 2020 , 65 : 139 - 153 . DOI: 10.1016/j.bpobgyn.2020.02.007 http://doi.org/10.1016/j.bpobgyn.2020.02.007 https://linkinghub.elsevier.com/retrieve/pii/S1521693420300341 https://linkinghub.elsevier.com/retrieve/pii/S1521693420300341

王剑 , 顾卫红 , 黄辉 , 等 . 遗传病二代测序临床检测全流程规范化共识探讨(1): 遗传检测前流程 [J ] . 中华医学遗传学杂志 , 2020 , 37 ( 3 ): 334 - 338 .

WANG J , GU W H , HUANG H , et al . A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1)-procedures prior to genetic testing [J ] . Chin J Med Genet , 2020 , 37 ( 3 ): 334 - 338 .

LIU Y , WANG H L , WANG X , et al . Prevalence and reclassification of BRCA 1 and BRCA 2 variants in a large, unselected Chinese Han breast cancer cohort [J ] . J Hematol Oncol , 2021 , 14 ( 1 ): 18 . DOI: 10.1186/s13045-020-01010-0 http://doi.org/10.1186/s13045-020-01010-0

LI A , XIE R , ZHI Q H , et al . BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls [J ] . Gynecol Oncol , 2018 , 151 ( 1 ): 145 - 152 . DOI: 10.1016/j.ygyno.2018.07.024 http://doi.org/10.1016/j.ygyno.2018.07.024 https://linkinghub.elsevier.com/retrieve/pii/S0090825818310886 https://linkinghub.elsevier.com/retrieve/pii/S0090825818310886

ZHANG X F , MAO T B , ZHANG B , et al . Characterization of DNA damage response deficiency in pancreatic cancer patients from China [J ] . Cancer Commun , 2022 , 42 ( 1 ): 70 - 74 . DOI: 10.1002/cac2.v42.1 http://doi.org/10.1002/cac2.v42.1 https://onlinelibrary.wiley.com/toc/25233548/42/1 https://onlinelibrary.wiley.com/toc/25233548/42/1

WALLACE A J . New challenges for BRCA testing: a view from the diagnostic laboratory [J ] . Eur J Hum Genet , 2016 , 24 ( Suppl 1 ): S10 - S18 . DOI: 10.1038/ejhg.2016.94 http://doi.org/10.1038/ejhg.2016.94

张学 , 季加孚 , 徐兵河 . 肿瘤遗传咨询(第三版) [M ] . 北京 : 人民卫生出版社 , 2016 .

ZHANG X , JI J F , XU B H . Tumor Genetic Counseling (Third Edition) [M ] . Beijing : People’s Health Publishing House , 2016 .

TREPANIER A , AHRENS M , MCKINNON W , et al . Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors [J ] . J Genet Couns , 2004 , 13 ( 2 ): 83 - 114 . DOI: 10.1023/B:JOGC.0000018821.48330.77 http://doi.org/10.1023/B:JOGC.0000018821.48330.77

STROM C M , RIVERA S , ELZINGA C , et al . Development and validation of a next-generation sequencing assay for BRCA 1 and BRCA 2 variants for the clinical laboratory [J ] . PLoS One , 2015 , 10 ( 8 ): e0136419 . DOI: 10.1371/journal.pone.0136419 http://doi.org/10.1371/journal.pone.0136419 https://dx.plos.org/10.1371/journal.pone.0136419 https://dx.plos.org/10.1371/journal.pone.0136419

尚红 , 王毓三 , 申子瑜 . 全国临床检验操作规程(第4版) [M ] . 北京 : 人民卫生出版社 , 2016 .

SHANG H , WANG Y S , SHEN Z Y . National Clinical Laboratory Operating Procedures (4th Edition) [M ] . Beijing : People's Health Publishing House , 2016 .

国家药品监督管理局 . BRCA 基因突变检测试剂盒及数据库通用技术要求: YY/T 1865-2022 [S ] . 北京 : 中国标准出版社 , 2022 .

The National Medical Products Administration . General technical requirements for BRCA gene mutation detection kit and database: YY/T 1865-2022 [S ] . Beijing : China Standards Publishing House , 2022 .

RIGGS E R , ANDERSEN E F , CHERRY A M , et al . Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) [J ] . Genet Med , 2020 , 22 ( 2 ): 245 - 257 . DOI: 10.1038/s41436-019-0686-8 http://doi.org/10.1038/s41436-019-0686-8

RICHARDS S , AZIZ N , BALE S , et al . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J ] . Genet Med , 2015 , 17 ( 5 ): 405 - 424 . DOI: 10.1038/gim.2015.30 http://doi.org/10.1038/gim.2015.30

LARSSON N , BORG Å , HODGSON S , et al . European Molecular Genetics Quality Network (EMQN) best practice guidelines for molecular genetics analysis in hereditary breast/ovarian cancer [EB-OL ] . (2007-10-25)[2016-09-25 ] . https://www.emqn.org/emqn/digitalAssets/0/232_EMQNBRCAguidelines0908.pdf https://www.emqn.org/emqn/digitalAssets/0/232_EMQNBRCAguidelines0908.pdf https://www.emqn.org/emqn/digitalAssets/0/232_EMQNBRCAguidelines0908.pdf.

ALLELES E-B N F T I O G M . ENIGMA BRCA 1/2 gene variant classification criteria [S ] . 2017 .

黄辉 , 沈亦平 , 顾卫红 , 等 . 临床基因检测报告规范与基因检测行业共识探讨 [J ] . 中华医学遗传学杂志 , 2018 , 35 ( 1 ): 1 - 8 .

HUANG H , SHEN Y P , GU W H , et al . Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry [J ] . Chin J Med Genet , 2018 , 35 ( 1 ): 1 - 8 .

CHEN S N , PARMIGIANI G . Meta-analysis of BRCA 1 and BRCA 2 penetrance [J ] . J Clin Oncol , 2007 , 25 ( 11 ): 1329 - 1333 . DOI: 10.1200/JCO.2006.09.1066 http://doi.org/10.1200/JCO.2006.09.1066 https://ascopubs.org/doi/10.1200/JCO.2006.09.1066 https://ascopubs.org/doi/10.1200/JCO.2006.09.1066

MAVADDAT N , PEOCK S , FROST D , et al . Cancer risks for BRCA 1 and BRCA 2 mutation carriers: results from prospective analysis of EMBRACE [J ] . J Natl Cancer Inst , 2013 , 105 ( 11 ): 812 - 822 . DOI: 10.1093/jnci/djt095 http://doi.org/10.1093/jnci/djt095 https://academic.oup.com/jnci/article/105/11/812/1004115 https://academic.oup.com/jnci/article/105/11/812/1004115

LI S , SILVESTRI V , LESLIE G , et al . Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants [J ] . J Clin Oncol , 2022 , 40 ( 14 ): 1529 - 1541 .

CHEN J B , BAE E , ZHANG L J , et al . Penetrance of breast and ovarian cancer in women who carry a BRCA 1/2 mutation and do not use risk-reducing salpingo-oophorectomy: an updated meta-analysis [J ] . JNCI Cancer Spectr , 2020 , 4 ( 4 ): pkaa029 . DOI: 10.1093/jncics/pkaa029 http://doi.org/10.1093/jncics/pkaa029 https://academic.oup.com/jncics/article/doi/10.1093/jncics/pkaa029/5824305 https://academic.oup.com/jncics/article/doi/10.1093/jncics/pkaa029/5824305

VAIL P J , MORRIS B , VAN KAN A , et al . Comparison of locus-specific databases for BRCA 1 and BRCA 2 variants reveals disparity in variant classification within and among databases [J ] . J Community Genet , 2015 , 6 ( 4 ): 351 - 359 . DOI: 10.1007/s12687-015-0220-x http://doi.org/10.1007/s12687-015-0220-x http://link.springer.com/10.1007/s12687-015-0220-x http://link.springer.com/10.1007/s12687-015-0220-x

BREAST CANCER ASSOCIATION CONSORTIUM , MAVADDAT N , DORLING L , et al . Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes [J ] . JAMA Oncol , 2022 , 8 ( 3 ): e216744 . DOI: 10.1001/jamaoncol.2021.6744 http://doi.org/10.1001/jamaoncol.2021.6744 https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577 https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577

TAI Y C , DOMCHEK S , PARMIGIANI G , et al . Breast cancer risk among male BRCA 1 and BRCA 2 mutation carriers [J ] . J Natl Cancer Inst , 2007 , 99 ( 23 ): 1811 - 1814 . DOI: 10.1093/jnci/djm203 http://doi.org/10.1093/jnci/djm203 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/djm203 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/djm203

LECARPENTIER J , SILVESTRI V , KUCHENBAECKER K B , et al . Pre diction of breast and prostate cancer risks in male BRCA 1 and BRCA 2 mutation carriers using polygenic risk scores [J ] . J Clin Oncol , 2017 , 35 ( 20 ): 2240 - 2250 . DOI: 10.1200/JCO.2016.69.4935 http://doi.org/10.1200/JCO.2016.69.4935 https://ascopubs.org/doi/10.1200/JCO.2016.69.4935 https://ascopubs.org/doi/10.1200/JCO.2016.69.4935

EVANS D G R , SUSNERWALA I , DAWSON J , et al . Risk of breast cancer in male BRCA 2 carriers [J ] . J Med Genet , 2010 , 47 ( 10 ): 710 - 711 . DOI: 10.1136/jmg.2009.075176 http://doi.org/10.1136/jmg.2009.075176 https://jmg.bmj.com/lookup/doi/10.1136/jmg.2009.075176 https://jmg.bmj.com/lookup/doi/10.1136/jmg.2009.075176

NYBERG T , FROST D , BARROWDALE D , et al . Prostate cancer risks for male BRCA 1 and BRCA 2 mutation carriers: a prospective cohort study [J ] . Eur Urol , 2020 , 77 ( 1 ): 24 - 35 . DOI: 10.1016/j.eururo.2019.08.025 http://doi.org/10.1016/j.eururo.2019.08.025 https://linkinghub.elsevier.com/retrieve/pii/S030228381930675X https://linkinghub.elsevier.com/retrieve/pii/S030228381930675X

KAUFMAN B , SHAPIRA-FROMMER R , SCHMUTZLER R K , et al . Olaparib monotherapy in patients with advanced cancer and a germline BRCA 1/2 mutation [J ] . J Clin Oncol , 2015 , 33 ( 3 ): 244 - 250 .

DOMCHEK S M , AGHAJANIAN C , SHAPIRA-FROMMER R , et al . Efficacy and safety of olaparib monotherapy in germline BRCA 1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy [J ] . Gynecol Oncol , 2016 , 140 ( 2 ): 199 - 203 . DOI: 10.1016/j.ygyno.2015.12.020 http://doi.org/10.1016/j.ygyno.2015.12.020 https://linkinghub.elsevier.com/retrieve/pii/S0090825815302237 https://linkinghub.elsevier.com/retrieve/pii/S0090825815302237

SWISHER E M , LIN K K , OZA A M , et al . Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial [J ] . Lancet Oncol , 2017 , 18 ( 1 ): 75 - 87 . DOI: S1470-2045(16)30559-9 http://doi.org/S1470-2045(16)30559-9

MIRZA M R , MONK B J , HERRSTEDT J , et al . Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer [J ] . N Engl J Med , 2016 , 375 ( 22 ): 2154 - 2164 . DOI: 10.1056/NEJMoa1611310 http://doi.org/10.1056/NEJMoa1611310 http://www.nejm.org/doi/10.1056/NEJMoa1611310 http://www.nejm.org/doi/10.1056/NEJMoa1611310

AGARWAL N , AZAD A A , CARLES J , et al . Talazoparib plus enzalutamide in men with first-line metastatic castration-resistant prostate cancer (TALAPRO-2): a randomised, placebo-controlled, phase 3 trial [J ] . Lancet , 2023 , 402 ( 10398 ): 291 - 303 . DOI: 10.1016/S0140-6736(23)01055-3 http://doi.org/10.1016/S0140-6736(23)01055-3

NETWORK N C C . NCCN clinical practice guidelines in oncology-breast cancer (version 4. 2023) [S ] . 2023 .

NETWORK N C C . NCCN clinical practice guidelines in oncology-ovarian cancer including fallopian tube cancer and primary peritoneal cancer (version 1. 2023) [S ] . 2023 .

NETWORK N C C . NCCN clinical practice guidelines in oncology-pancreatic adenocarcinoma (version 2. 2022) [S ] . 2023 .

NETWORK N C C . NCCN clinical practice guidelines in oncology-prostate cancer (version 1. 2023) [S ] . 2023 .

MERSCH J , BROWN N , PIRZADEH-MILLER S , et al . Prevalence of variant reclassification following hereditary cancer genetic testing [J ] . JAMA , 2018 , 320 ( 12 ): 1266 - 1274 . DOI: 10.1001/jama.2018.13152 http://doi.org/10.1001/jama.2018.13152

ESTERLING L , WIJAYATUNGE R , BROWN K , et al . Impact of a cancer gene variant reclassification program over a 20-year period [J ] . JCO Precis Oncol , 2020 , 4: PO.20.00020.

中华人民共和国国务院 . 中华人民共和国人类遗传资源管理条例:国务院发[2019]717号(2019-6-10) [EB/OL ] . [ 2023-10-1 ] . https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm.

The State Council of the People's Republic of China . Regulations of the People's Republic of China on the Management of Human Genetic Resources: State Council Document [2019] No. 717 (2019-6-10) [EB/OL ] . [ 2023-10-1 ] . https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm https://www.gov.cn/zhengce/content/2019-06/10/content_5398829.htm.

FORBES C , FAYTER D , KOCK S D , et al . A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA -mutated breast cancer [J ] . Cancer Manag Res , 2019 , 11 : 2321 - 2337 . DOI: 10.2147/CMAR http://doi.org/10.2147/CMAR https://www.dovepress.com/cancer-management-and-research-journal https://www.dovepress.com/cancer-management-and-research-journal

ECCLES D M , BALMAÑA J , CLUNE J , et al . Selecting patients with ovarian cancer for germline BRCA mutation testing: findings from guidelines and a systematic literature review [J ] . Adv Ther , 2016 , 33 ( 2 ): 129 - 150 . DOI: 10.1007/s12325-016-0281-1 http://doi.org/10.1007/s12325-016-0281-1 http://link.springer.com/10.1007/s12325-016-0281-1 http://link.springer.com/10.1007/s12325-016-0281-1

KEMP Z , TURNBULL A , YOST S , et al . Evaluation of cancer-based criteria for use in mainstream BRCA 1 and BRCA 2 genetic testing in patients with breast cancer [J ] . JAMA Netw Open , 2019 , 2 ( 5 ): e194428 . DOI: 10.1001/jamanetworkopen.2019.4428 http://doi.org/10.1001/jamanetworkopen.2019.4428 http://jamanetworkopen.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.4428 http://jamanetworkopen.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.4428

PASSAPERUMA K , WARNER E , CAUSER P A , et al . Long-term results of screening with magnetic resonance imaging in women with BRCA mutations [J ] . Br J Cancer , 2012 , 107 ( 1 ): 24 - 30 . DOI: 10.1038/bjc.2012.204 http://doi.org/10.1038/bjc.2012.204

PHI X A , SAADATMAND S , DE BOCK G H , et al . Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis [J ] . Br J Cancer , 2016 , 114 ( 6 ): 631 - 637 . DOI: 10.1038/bjc.2016.32 http://doi.org/10.1038/bjc.2016.32

METCALFE K , LYNCH H T , GHADIRIAN P , et al . Contralateral breast cancer in BRCA 1 and BRCA 2 mutation carriers [J ] . J Clin Oncol , 2004 , 22 ( 12 ): 2328 - 2335 . DOI: 10.1200/JCO.2004.04.033 http://doi.org/10.1200/JCO.2004.04.033 https://ascopubs.org/doi/10.1200/JCO.2004.04.033 https://ascopubs.org/doi/10.1200/JCO.2004.04.033

FINCH A P , LUBINSKI J , MØLLER P , et al . Impact of oophorectomy on cancer incidence and mortality in women with a BRCA 1 or BRCA 2 mutation [J ] . J Clin Oncol , 2014 , 32 ( 15 ): 1547 - 1553 . DOI: 10.1200/JCO.2013.53.2820 http://doi.org/10.1200/JCO.2013.53.2820 https://ascopubs.org/doi/10.1200/JCO.2013.53.2820 https://ascopubs.org/doi/10.1200/JCO.2013.53.2820

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Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)

DOI：10.19401/j.cnki.1007-3639.2024.02.010

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