Expert consensus on genetic counseling in gynecological oncology (2023 edition)

doi:10.19401/j.cnki.1007-3639.2023.11.010

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Expert consensus on genetic counseling in gynecological oncology (2023 edition)

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

- Expert consensus on genetic counseling in gynecological oncology (2023 edition)
- China Oncology Vol. 33, Issue 11, Pages: 1041-1064(2023)
- 作者机构：
  
  中国三级妇产科医院/妇幼保健院联盟妇科肿瘤遗传咨询协作组，中国抗癌协会中西整合子宫内膜癌专业委员会
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2023.11.010
  CLC： R737.3
- Received：19 September 2023，
  
  Revised：2023-10-13，
  
  Published：30 November 2023
- 稿件说明：
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Expert consensus on genetic counseling in gynecological oncology (2023 edition)[J]. China Oncology, 2023, 33(11): 1041-1064.
DOI：

Expert consensus on genetic counseling in gynecological oncology (2023 edition)[J]. China Oncology, 2023, 33(11): 1041-1064. DOI： 10.19401/j.cnki.1007-3639.2023.11.010.

摘要

随着高通量基因组测序技术的不断成熟，人们深刻认识到遗传因素在妇科肿瘤的发生、发展中具有重要作用，肿瘤遗传咨询也随之广泛应用于肿瘤精准筛查、诊断、治疗及预防等方面。2023年3—9月，20余位来自中国三级妇产科医院/妇幼保健院联盟妇科肿瘤遗传咨询协作组和中国抗癌协会中西整合子宫内膜癌专业委员会的妇科肿瘤临床专家，以及流行病学、循证医学研究的多学科专家共同参与，经过前期临床问题调研并召开方法学专家专题会和妇科肿瘤临床专家编写会反复讨论，起草了《妇科肿瘤遗传咨询专家共识（2023年版）》。本共识围绕制定背景、遗传性妇科肿瘤的特征及常见类型、遗传性妇科肿瘤检测、遗传咨询的适用群体、遗传咨询流程及咨询内容、相关资源推荐等多个方向，参照牛津大学循证医学中心证据分级系统，最终形成16条专家共识及推荐意见。希望通过本共识，提高妇科肿瘤临床工作者对于遗传性肿瘤的识别，有助于为患者提供更精准的诊断和治疗，也为其家系成员提供有效的预防和生殖管理措施。本共识将根据妇科肿瘤诊疗和遗传咨询相关领域的发展定期进行更新。

Abstract

With the increasing applications of high-throughput genome sequencing technology

there is a growing recognition of the important roles of genetic factors in the occurrence and development of gynecological tumors. Genetic counseling is widely adopted in various aspects of precision medicine in tumor screening

diagnosis

treatment and prevention. From March to September 2023

more than 20 clinical experts in gynecological oncology from Gynecologic Oncology Genetic Counseling Collaboration Group

Chinese Tertiary Obstetrics and Gynecology Hospital/Materning and Child Healthcare Hospital Alliance and Integrated Chinese and Western Endometrial Cancer Professional Committee

Chinese Anti-Cancer Association

collaborated with multidisciplinary experts in epidemiology and evidence-based medicine research. Together

We conducted preliminary research on clinical issues

held special meetings with methodology experts

and convened extensive discussions with the clinical experts in gynecological oncology to draft the “expert consensus on genetic counseling in gynecological oncology (2023 edition)”. This consensus covers various aspects

including the background

characteristics and common types of hereditary tumors

genetic tumor testing

eligible populations for genetic counseling

the process and content of genetic counseling

as well as recommended resources. It follows the evidence grading system of the Oxford Centre for Evidence-Based Medicine and ultimately presents 16 expert consensus statements and recommendations. We hope that this consensus will empower clinical practitioner in gynecological oncology to better identify hereditary tumors

enabling them to provide more accurate diagnosis and treatment for patients

as well as effective preventative measures and reproductive management for their family members. This consensus will be periodically updated to align with the advancements in diagnosis and treatment of gynecological tumors and genetic counseling related fields.

关键词

Keywords

references

SUNG H , FERLAY J , SIEGEL R L , 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.v71.3 http://doi.org/10.3322/caac.v71.3 https://acsjournals.onlinelibrary.wiley.com/toc/15424863/71/3 https://acsjournals.onlinelibrary.wiley.com/toc/15424863/71/3

World Health Organization . Cancer topics [EB/OL ] .[2023-08-11 ] . https://www.iarc.who.int/cancer-topics/. https://www.iarc.who.int/cancer-topics/ https://www.iarc.who.int/cancer-topics/

CHEN M , ZHAO H Y . Next-generation sequencing in liquid biopsy: cancer screening and early detection [J ] . Hum Genomics , 2019 , 13 ( 1 ): 34 . DOI: 10.1186/s40246-019-0220-8 http://doi.org/10.1186/s40246-019-0220-8

GUZAUSKAS G F , GARBETT S , ZHOU Z L , et al . Population genomic screening for three common hereditary conditions: a cost-effectiveness analysis [J ] . Ann Intern Med , 2023 , 176 ( 5 ): 585 - 595 . DOI: 10.7326/M22-0846 http://doi.org/10.7326/M22-0846 https://www.acpjournals.org/doi/10.7326/M22-0846 https://www.acpjournals.org/doi/10.7326/M22-0846

DEVLIN L A , MORRISON P J . Inherited gynaecological cancer syndromes [J ] . Obstet Gynaecol , 2008 , 10 ( 1 ): 9 - 15 . DOI: 10.1576/toag.10.1.009.27371 http://doi.org/10.1576/toag.10.1.009.27371 https://obgyn.onlinelibrary.wiley.com/doi/10.1576/toag.10.1.009.27371 https://obgyn.onlinelibrary.wiley.com/doi/10.1576/toag.10.1.009.27371

Hereditary cancer syndromes and risk assessment: ACOG COMMITTEE OPINION, number 793 [J ] . Obstet Gynecol , 2019 , 134 ( 6 ): e143 -e149. DOI: 10.1097/AOG.0000000000003563 http://doi.org/10.1097/AOG.0000000000003563

KOSTOV S , WATROWSKI R , KORNOVSKI Y , et al . Hereditary gynecologic cancer syndromes-a narrative review [J ] . Onco Targets Ther , 2022 , 15 : 381 - 405 . DOI: 10.2147/OTT.S353054 http://doi.org/10.2147/OTT.S353054 https://www.dovepress.com/hereditary-gynecologic-cancer-syndromes--a-narrative-review-peer-reviewed-fulltext-article-OTT https://www.dovepress.com/hereditary-gynecologic-cancer-syndromes--a-narrative-review-peer-reviewed-fulltext-article-OTT

MURRAY M F , KHOURY M J , ABUL-HUSN N S . Addressing the routine failure to clinically identify monogenic cases of common disease [J ] . Genome Med , 2022 , 14 ( 1 ): 60 . DOI: 10.1186/s13073-022-01062-6 http://doi.org/10.1186/s13073-022-01062-6

RANDALL L M , POTHURI B . The genetic prediction of risk for gynecologic cancers [J ] . Gynecol Oncol , 2016 , 141 ( 1 ): 10 - 16 . DOI: 10.1016/j.ygyno.2016.03.007 http://doi.org/10.1016/j.ygyno.2016.03.007

FANALE D , PIVETTI A , CANCELLIERE D , et al . BRCA 1/2 variants of unknown significance in hereditary breast and ovarian c ancer (HBOC) syndrome: looking for the hidden meaning [J ] . Crit Rev Oncol Hematol , 2022 , 172 : 103626 . DOI: 10.1016/j.critrevonc.2022.103626 http://doi.org/10.1016/j.critrevonc.2022.103626 https://linkinghub.elsevier.com/retrieve/pii/S1040842822000506 https://linkinghub.elsevier.com/retrieve/pii/S1040842822000506

LU K H . Hereditary gynecologic cancers: differential diagnosis, surveillance, management and surgical prophylaxis [J ] . Fam Cancer , 2008 , 7 ( 1 ): 53 - 58 . DOI: 10.1007/s10689-007-9144-x http://doi.org/10.1007/s10689-007-9144-x

SHANBHOGUE K P , PRASAD A S , UCISIK-KESER F E , et al . Hereditary ovarian tumour syndromes: current update on genetics and imaging [J ] . Clin Radiol , 2021 , 76 ( 4 ): 313. e15 - 313 .313.e26.

UEKI A , HIRASAWA A . Molecular features and clinical management of hereditary gynecological cancers [J ] . Int J Mol Sci , 2020 , 21 ( 24 ): 9504 . DOI: 10.3390/ijms21249504 http://doi.org/10.3390/ijms21249504 https://www.mdpi.com/1422-0067/21/24/9504 https://www.mdpi.com/1422-0067/21/24/9504

KATABATHINA V S , MENIAS C O , KHANNA L , et al . Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management [J ] . Radiographics , 2019 , 39 ( 5 ): 1280 - 1301 . DOI: 10.1148/rg.2019180185 http://doi.org/10.1148/rg.2019180185

MANNING-GEIST B L , GATIUS S , LIU Y , et al . Diagnosis and management of an endometrial cancer patient with Cowden syndrome [J ] . Gynecol Oncol , 2021 , 163 ( 1 ): 14 - 21 . DOI: 10.1016/j.ygyno.2021.08.008 http://doi.org/10.1016/j.ygyno.2021.08.008 https://linkinghub.elsevier.com/retrieve/pii/S0090825821012920 https://linkinghub.elsevier.com/retrieve/pii/S0090825821012920

LU G H . Hereditary cancer genetic counseling [M ] . Beijing : Peking University Medical Press , 2021 : 261 - 292 .

NEMES K , FRÜHWALD M C . Emerging therapeutic targets for the treatment of malignant rhabdoid tumors [J ] . Expert Opin Ther Targets , 2018 , 22 ( 4 ): 365 - 379 . DOI: 10.1080/14728222.2018.1451839 http://doi.org/10.1080/14728222.2018.1451839 https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1451839 https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1451839

SCHULTZ K A P , STEWART D R , KAMIHARA J , et al . DICER1 Tumor Predisposition [DB/OL ] . (2020-04-30)[2023-08-11 ] . https://www.ncbi.nlm.nih.gov/books/NBK196157/. https://www.ncbi.nlm.nih.gov/books/NBK196157/ https://www.ncbi.nlm.nih.gov/books/NBK196157/

DHO Y S , KIM S K , CHEON J E , et al . Investigation of the location of atypical teratoid/rhabdoid tumor [J ] . Childs Nerv Syst , 2015 , 31 ( 8 ): 1305 - 1311 . DOI: 10.1007/s00381-015-2739-x http://doi.org/10.1007/s00381-015-2739-x http://link.springer.com/10.1007/s00381-015-2739-x http://link.springer.com/10.1007/s00381-015-2739-x

LINDOR N M , MCMASTER M L , LINDOR C J , et al . Concise handbook of familial cancer susceptibility syndromes-second edition [J ] . J Natl Cancer Inst Monogr , 2008 ( 38 ): 1 - 93 .

HILGART J S , HAYWARD J A , COLES B , et al . Telegenetics: a systematic review of telemedicine in genetics services [J ] . Genet Med , 2012 , 14 ( 9 ): 765 - 776 . DOI: 10.1038/gim.2012.40 http://doi.org/10.1038/gim.2012.40

BAUMANIS L , EVANS J P , CALLANAN N , et al . Telephoned BRCA 1/2 genetic test results: prevalence, practice, and patient satisfaction [J ] . J Genet Couns , 2009 , 18 ( 5 ): 447 - 463 . DOI: 10.1007/s10897-009-9238-8 http://doi.org/10.1007/s10897-009-9238-8 https://onlinelibrary.wiley.com/doi/10.1007/s10897-009-9238-8 https://onlinelibrary.wiley.com/doi/10.1007/s10897-009-9238-8

GRAY J , BRAIN K , IREDALE R , et al . A pilot study of telegenetics [J ] . J Telemed Telecare , 2000 , 6 ( 4 ): 245 - 247 .

KINNEY A Y , BUTLER K M , SCHWARTZ M D , et al . Expanding access to BRCA 1/2 genetic counseling with telephone delivery: a cluster randomized trial [J ] . J Natl Cancer Inst , 2014 , 106 ( 12 ): dju328 . DOI: 10.1093/jnci/dju328 http://doi.org/10.1093/jnci/dju328 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/dju328 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/dju328

BRACKE X , ROBERTS J , MCVEIGH T P . A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA 1/ BRCA 2 genetic testing [J ] . J Genet Couns , 2021 , 30 ( 2 ): 563 - 573 . DOI: 10.1002/jgc4.v30.2 http://doi.org/10.1002/jgc4.v30.2 https://onlinelibrary.wiley.com/toc/15733599/30/2 https://onlinelibrary.wiley.com/toc/15733599/30/2

GATTAS M R , MACMILLAN J C , MEINECKE I , et al . Telemedicine and clinical genetics: establishing a successful service [J ] . J Telemed Telecare , 2001 , 7 ( Suppl 2 ): 68 - 70 .

COELHO J J , ARNOLD A , NAYLER J , et al . An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations [J ] . Eur J Cancer , 2005 , 41 ( 15 ): 2257 - 2261 .

ZILLIACUS E M , MEISER B , LOBB E A , et al . Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling? [J ] . Genet Med , 2011 , 13 ( 11 ): 933 - 941 . DOI: 10.1097/GIM.0b013e3182217a19 http://doi.org/10.1097/GIM.0b013e3182217a19

SENTER L , O’MALLEY D M , BACKES F J , et al . Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care [J ] . Gynecol Oncol , 2017 , 147 ( 1 ): 110 - 114 . DOI: S0090-8258(17)31182-4 http://doi.org/S0090-8258(17)31182-4

RANA H Q , KIPNIS L , HEHIR K , et al . Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer [J ] . Gynecol Oncol , 2021 , 160 ( 2 ): 457 - 463 . DOI: 10.1016/j.ygyno.2020.11.003 http://doi.org/10.1016/j.ygyno.2020.11.003

KENTWELL M , DOW E , ANTILL Y , et al . Mainstreaming cancer genetics: a model integrating germline BRCA testing into routine ovarian cancer clinics [J ] . Gynecol Oncol , 2017 , 145 ( 1 ): 130 - 136 .

MÁRQUEZ-RODAS I , LÓPEZ-TRABADA D , RUPÉREZ BLANCO A B , et al . Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study [J ] . Oncology , 2012 , 82 ( 1 ): 30 - 34 . DOI: 10.1159/000335960 http://doi.org/10.1159/000335960 https://www.karger.com/Article/FullText/335960 https://www.karger.com/Article/FullText/335960

OW S G , YONG Y F , CHIENG W S , et al . Inadequate family history assessment by oncologists is an important physician barrier to referral for hereditary breast cancer evaluation [J ] . Clin Oncol (R Coll Radiol) , 2014 , 26 ( 3 ): 174 - 175 . DOI: 10.1016/j.clon.2013.11.029 http://doi.org/10.1016/j.clon.2013.11.029

BORRY P , STULTIENS L , NYS H , et al . Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers [J ] . Clin Genet , 2006 , 70 ( 5 ): 374 - 381 .

EIJZENGA W , DE GEUS E , AALFS C M , et al . How to support cancer genetics counselees in informing at-risk relatives? Lessons from a randomized controlled trial [J ] . Patient Educ Couns , 2018 , 101 ( 9 ): 1611 - 1619 . DOI: S0738-3991(18)30206-4 http://doi.org/S0738-3991(18)30206-4

OFFIT K , LEVRAN O , MULLANEY B , et al . Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia [J ] . J Natl Cancer Inst , 2003 , 95 ( 20 ): 1548 - 1551 .

FANALE D , FIORINO A , INCORVAIA L , et al . Prevalence and spectrum of germline BRCA 1 and BRCA 2 variants of uncertain significance in breast/ovarian cancer: mysterious signals from the genome [J ] . Front Oncol , 2021 , 11 : 682445 . DOI: 10.3389/fonc.2021.682445 http://doi.org/10.3389/fonc.2021.682445 https://www.frontiersin.org/articles/10.3389/fonc.2021.682445/full https://www.frontiersin.org/articles/10.3389/fonc.2021.682445/full

HEGDE M , FERBER M , MAO R , et al . ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis) [J ] . Genet Med , 2014 , 16 ( 1 ): 101 - 116 . DOI: 10.1038/gim.2013.166 http://doi.org/10.1038/gim.2013.166

《基于下一代测序技术的 BRCA 1/2基因检测指南(2019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 .

“Guidelines for genetic testing of BRCA 1/2 genes based on next-generation sequencing technology (2019 edition)” Working Group . Guidelines for genetic testing of BRCA 1/2 genes based on next-generation sequencing technology (2019 edition) [J ] . Chin J Pathol , 2019 , 48 ( 9 ): 670 - 677 .

MILLER D T , LEE K , ABUL-HUSN N S , et al . ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) [J ] . Genet Med , 2022 , 24 ( 7 ): 1407 - 1414 . DOI: 10.1016/j.gim.2022.04.006 http://doi.org/10.1016/j.gim.2022.04.006

REHDER C , BEAN L J H , BICK D , et al . Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [J ] . Genet Med , 2021 , 23 ( 8 ): 1399 - 1415 . DOI: 10.1038/s41436-021-01139-4 http://doi.org/10.1038/s41436-021-01139-4

SONG C , DUZKALE H , SHEN J . Reporting of clinical genome sequencing results [J ] . Curr Protoc Hum Genet , 2018 , 98 ( 1 ): e61 .

张军玉 , 沈亦平 . 全面认识遗传检测 [J ] . 中国实用儿科杂志 , 2022 , 37 ( 4 ): 272 - 276 .

ZHANG J Y , SHEN Y P . A comprehensive understanding of genetic testing [J ] . Chin J Pract Pediatr , 2022 , 37 ( 4 ): 272 - 276 .

GAYTHER S A , PHAROAH P D P . The inherited genetics of ovarian and endometrial cancer [J ] . Curr Opin Genet Dev , 2010 , 20 ( 3 ): 231 - 238 . DOI: 10.1016/j.gde.2010.03.001 http://doi.org/10.1016/j.gde.2010.03.001

JONES M A , TIMMS K M , HATCHER S , et al . The landscape of BRCA 1 and BRCA 2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next-generation sequencing [J ] . Genes Chromosomes Cancer , 2023 , 62 ( 10 ): 589 - 596 . DOI: 10.1002/gcc.v62.10 http://doi.org/10.1002/gcc.v62.10 https://onlinelibrary.wiley.com/toc/10982264/62/10 https://onlinelibrary.wiley.com/toc/10982264/62/10

FAYER S , HORTON C , DINES J N , et al . Closing the gap: systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA 1, TP 53, and PTEN [J ] . Am J Hum Genet , 2021 , 108 ( 12 ): 2248 - 2258 . DOI: 10.1016/j.ajhg.2021.11.001 http://doi.org/10.1016/j.ajhg.2021.11.001 https://linkinghub.elsevier.com/retrieve/pii/S0002929721004110 https://linkinghub.elsevier.com/retrieve/pii/S0002929721004110

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

TAVTIGIAN S V , HARRISON S M , BOUCHER K M , et al . Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines [J ] . Hum Mutat , 2020 , 41 ( 10 ): 1734 - 1737 . DOI: 10.1002/humu.v41.10 http://doi.org/10.1002/humu.v41.10 https://onlinelibrary.wiley.com/toc/10981004/41/10 https://onlinelibrary.wiley.com/toc/10981004/41/10

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.

ZHANG J , YAO Y , HE H , et al . Clinical interpretation of sequence variants [J ] . Curr Protoc Hum Genet , 2020 , 106 ( 1 ): e98 .

KATZ A E , NUSSBAUM R L , SOLOMON B D , et al . Management of secondary genomic findings [J ] . Am J Hum Genet , 2020 , 107 ( 1 ): 3 - 14 . DOI: S0002-9297(20)30149-X http://doi.org/S0002-9297(20)30149-X

MURRAY M F , GIOVANNI M A , DOYLE D L , et al . DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG) [J ] . Genet Med , 2021 , 23 ( 6 ): 989 - 995 . DOI: 10.1038/s41436-020-01082-w http://doi.org/10.1038/s41436-020-01082-w

KOTSOPOULOS J , GRONWALD J , KARLAN B , et al . Age-specific ovarian cancer risks among women with a BRCA 1 or BRCA 2 mutation [J ] . Gynecol Oncol , 2018 , 150 ( 1 ): 85 - 91 . DOI: 10.1016/j.ygyno.2018.05.011 http://doi.org/10.1016/j.ygyno.2018.05.011 https://linkinghub.elsevier.com/retrieve/pii/S0090825818308989 https://linkinghub.elsevier.com/retrieve/pii/S0090825818308989

ANTONIOU A , PHAROAH P D , NAROD S , et al . Average risks of breast and ovarian cancer associated with BRCA 1 or BRCA 2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies [J ] . Am J Hum Genet , 2003 , 72 ( 5 ): 1117 - 1130 . DOI: 10.1086/375033 http://doi.org/10.1086/375033 https://linkinghub.elsevier.com/retrieve/pii/S0002929707606405 https://linkinghub.elsevier.com/retrieve/pii/S0002929707606405

CHEN S N , IVERSEN E S , FRIEBEL T , et al . Characterization of BRCA 1 and BRCA 2 mutations in a large United States sample [J ] . J Clin Oncol , 2006 , 24 ( 6 ): 863 - 871 . DOI: 10.1200/JCO.2005.03.6772 http://doi.org/10.1200/JCO.2005.03.6772 https://ascopubs.org/doi/10.1200/JCO.2005.03.6772 https://ascopubs.org/doi/10.1200/JCO.2005.03.6772

BROSE M S , REBBECK T R , CALZONE K A , et al . Cancer risk estimates for BRCA 1 mutation carriers identified in a risk evaluation program [J ] . J Natl Cancer Inst , 2002 , 94 ( 18 ): 1365 - 1372 . DOI: 10.1093/jnci/94.18.1365 http://doi.org/10.1093/jnci/94.18.1365 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/94.18.1365 https://academic.oup.com/jnci/article-lookup/doi/10.1093/jnci/94.18.1365

VAN ASPEREN C J , BROHET R M , MEIJERS-HEIJBOER E J , et al . Cancer risks in BRCA 2 families: estimates for sites other than breast and ovary [J ] . J Med Genet , 2005 , 42 ( 9 ): 711 - 719 . DOI: 10.1136/jmg.2004.028829 http://doi.org/10.1136/jmg.2004.028829 https://jmg.bmj.com/lookup/doi/10.1136/jmg.2004.028829 https://jmg.bmj.com/lookup/doi/10.1136/jmg.2004.028829

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

KUCHENBAECKER K B , HOPPER J L , BARNES D R , et al . Risks of breast, ovarian, and contralateral breast cancer for BRCA 1 and BRCA 2 mutation carriers [J ] . JAMA , 2017 , 317 ( 23 ): 2402 - 2416 . DOI: 10.1001/jama.2017.7112 http://doi.org/10.1001/jama.2017.7112 http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.2017.7112 http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.2017.7112

SEPPÄLÄ T T , DOMINGUEZ-VALENTIN M , SAMPSON J R , et al . Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD) [J ] . Fam Cancer , 2021 , 20 ( 1 ): 35 - 39 . DOI: 10.1007/s10689-020-00193-2 http://doi.org/10.1007/s10689-020-00193-2

HELDER-WOOLDERINK J M , BLOK E A , VASEN H F , et al . Ovarian cancer in Lynch syndrome; a systematic review [J ] . Eur J Cancer , 2016 , 55 : 65 - 73 . DOI: 10.1016/j.ejca.2015.12.005 http://doi.org/10.1016/j.ejca.2015.12.005 https://linkinghub.elsevier.com/retrieve/pii/S0959804915011399 https://linkinghub.elsevier.com/retrieve/pii/S0959804915011399

DOWTY J G , WIN A K , BUCHANAN D D , et al . Cancer risks for MLH 1 and MSH 2 mutation carriers [J ] . Hum Mutat , 2013 , 34 ( 3 ): 490 - 497 . DOI: 10.1002/humu.22262 http://doi.org/10.1002/humu.22262 https://onlinelibrary.wiley.com/doi/10.1002/humu.22262 https://onlinelibrary.wiley.com/doi/10.1002/humu.22262

BONADONA V , BONAÏTI B , OLSCHWANG S , et al . Cancer risks associated with germline mutations in MLH 1, MSH 2, and MSH 6 genes in Lynch syndrome [J ] . JAMA , 2011 , 305 ( 22 ): 2304 - 2310 . DOI: 10.1001/jama.2011.743 http://doi.org/10.1001/jama.2011.743 http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.2011.743 http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.2011.743

DOMINGUEZ-VALENTIN M , SAMPSON J R , SEPPÄLÄ T T , et al . Cancer risks by gene, age, and gender in 6 350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database [J ] . Genet Med , 2020 , 22 ( 1 ): 15 - 25 .

MESERVE E E K , NUCCI M R . Peutz-Jeghers syndrome: pathobiology, pathologic manifestations, and suggestions for recommending genetic testing in pathology reports [J ] . Surg Pathol Clin , 2016 , 9 ( 2 ): 243 - 268 . DOI: 10.1016/j.path.2016.01.006 http://doi.org/10.1016/j.path.2016.01.006

ISHIDA H , TAJIMA Y , GONDA T , et al . Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan [J ] . Surg Today , 2016 , 46 ( 11 ): 1231 - 1242 . DOI: 10.1007/s00595-015-1296-y http://doi.org/10.1007/s00595-015-1296-y

TAN M H , MESTER J L , NGEOW J , et al . Lifetime cancer risks in individuals with germline PTEN mutations [J ] . Clin Cancer Res , 2012 , 18 ( 2 ): 400 - 407 . DOI: 10.1158/1078-0432.CCR-11-2283 http://doi.org/10.1158/1078-0432.CCR-11-2283 https://aacrjournals.org/clincancerres/article/18/2/400/77281/Lifetime-Cancer-Risks-in-Individuals-with-Germline https://aacrjournals.org/clincancerres/article/18/2/400/77281/Lifetime-Cancer-Risks-in-Individuals-with-Germline

RAMUS S J , SONG H L , DICKS E , et al . Germline mutations in the BRIP 1, BARD 1, PALB 2, and NBN genes in women with ovarian cancer [J ] . J Natl Cancer Inst , 2015 , 107 ( 11 ): djv214 .

KEMPERS M J , KUIPER R P , OCKELOEN C W , et al . Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study [J ] . Lancet Oncol , 2011 , 12 ( 1 ): 49 - 55 . DOI: 10.1016/S1470-2045(10)70265-5 http://doi.org/10.1016/S1470-2045(10)70265-5 https://linkinghub.elsevier.com/retrieve/pii/S1470204510702655 https://linkinghub.elsevier.com/retrieve/pii/S1470204510702655

YANG X , SONG H L , LESLIE G , et al . Ovarian and breast cancer risks associated with pathogenic variants in RAD 51 C and RAD 51 D [J ] . J Natl Cancer Inst , 2020 , 112 ( 12 ): 1242 - 1250 . DOI: 10.1093/jnci/djaa030 http://doi.org/10.1093/jnci/djaa030 https://academic.oup.com/jnci/article/112/12/1242/5764125 https://academic.oup.com/jnci/article/112/12/1242/5764125

GOGGINS M , OVERBEEK K A , BRAND R , et al . Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium [J ] . Gut , 2020 , 69 ( 1 ): 7 - 17 . DOI: 10.1136/gutjnl-2019-319352 http://doi.org/10.1136/gutjnl-2019-319352

HAN F F , GUO C L , LIU L H . The effect of CHEK 2 variant I157T on cancer susceptibility: evidence from a meta-analysis [J ] . DNA Cell Biol , 2013 , 32 ( 6 ): 329 - 335 . DOI: 10.1089/dna.2013.1970 http://doi.org/10.1089/dna.2013.1970 http://www.liebertpub.com/doi/10.1089/dna.2013.1970 http://www.liebertpub.com/doi/10.1089/dna.2013.1970

JACOBS I J , MENON U , RYAN A , et al . Ovarian cancer screening and mortality in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial [J ] . Lancet , 2016 , 387 ( 10022 ): 945 - 956 . DOI: S0140-6736(15)01224-6 http://doi.org/S0140-6736(15)01224-6

MENON U , GENTRY-MAHARAJ A , HALLETT R , et al . Sensitivity and specificity of multimodal and ultrasound screening for ovarian cancer, and stage distribution of detected cancers: results of the prevalence screen of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) [J ] . Lancet Oncol , 2009 , 10 ( 4 ): 327 - 340 . DOI: 10.1016/S1470-2045(09)70026-9 http://doi.org/10.1016/S1470-2045(09)70026-9

ROSENTHAL A N , FRASER L S M , PHILPOTT S , et al . Evidence of stage shift in women diagnosed with ovarian cancer during phase Ⅱ of the United Kingdom familial ovarian cancer screening study [J ] . J Clin Oncol , 2017 , 35 ( 13 ): 1411 - 1420 . DOI: 10.1200/JCO.2016.69.9330 http://doi.org/10.1200/JCO.2016.69.9330 https://ascopubs.org/doi/10.1200/JCO.2016.69.9330 https://ascopubs.org/doi/10.1200/JCO.2016.69.9330

SKATES S J , GREENE M H , BUYS S S , et al . Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA12-5 testing in women at increased familial risk-combined results from two screening trials [J ] . Clin Cancer Res , 2017 , 23 ( 14 ): 3628 - 3637 . DOI: 10.1158/1078-0432.CCR-15-2750 http://doi.org/10.1158/1078-0432.CCR-15-2750 https://aacrjournals.org/clincancerres/article/23/14/3628/123185/Early-Detection-of-Ovarian-Cancer-using-the-Risk https://aacrjournals.org/clincancerres/article/23/14/3628/123185/Early-Detection-of-Ovarian-Cancer-using-the-Risk

National Comprehensive Cancer Network . NCCN clinical practice guidelines in oncology (NCCN guidelines®) genetic/familial high-risk assessment: colorectal version 1.2022 [EB/OL ] . (2023-02-10)[2023-08-11 ] . https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf

JACOBS I , GENTRY-MAHARAJ A , BURNELL M , et al . Sensitivity of transvaginal ultrasound screening for endometrial cancer in postmenopausal women: a case-control study within the UKCTOCS cohort [J ] . Lancet Oncol , 2011 , 12 ( 1 ): 38 - 48 . DOI: 10.1016/S1470-2045(10)70268-0 http://doi.org/10.1016/S1470-2045(10)70268-0

DOVE-EDWIN I , BOKS D , GOFF S , et al . The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma [J ] . Cancer , 2002 , 94 ( 6 ): 1708 - 1712 . DOI: 10.1002/cncr.v94:6 http://doi.org/10.1002/cncr.v94:6 https://acsjournals.onlinelibrary.wiley.com/toc/10970142/94/6 https://acsjournals.onlinelibrary.wiley.com/toc/10970142/94/6

RENKONEN-SINISALO L , BÜTZOW R , LEMINEN A , et al . Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome [J ] . Int J Cancer , 2007 , 120 ( 4 ): 821 - 824 . DOI: 10.1002/ijc.v120:4 http://doi.org/10.1002/ijc.v120:4 https://onlinelibrary.wiley.com/toc/10970215/120/4 https://onlinelibrary.wiley.com/toc/10970215/120/4

SROCZYNSKI G , GOGOLLARI A , CONRADS-FRANK A , et al . Cost-effectiveness of early detection and prevention strategies for endometrial cancer-a systematic review [J ] . Cancers (Basel) , 2020 , 12 ( 7 ): 1874 . DOI: 10.3390/cancers12071874 http://doi.org/10.3390/cancers12071874 https://www.mdpi.com/2072-6694/12/7/1874 https://www.mdpi.com/2072-6694/12/7/1874

LEE M H , KIM E S , CHOI M C , et al . Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases [J ] . Obstet Gynecol Sci , 2018 , 61 ( 5 ): 590 - 597 . DOI: 10.5468/ogs.2018.61.5.590 http://doi.org/10.5468/ogs.2018.61.5.590

王文莉 , 叶红 . Peutz-Jeghers综合征相关宫颈胃型腺癌的研究进展 [J ] . 中国微创外科杂志 , 2022 , 22 ( 2 ): 167 - 169 .

WANG W L , YE H . Research progress of cervical gastric type adenocarcinoma associated with Peutz-Jeghers syndrome [J ] . Chin J Min Inv Surg , 2022 , 22 ( 2 ): 167 - 169 .

PATNICK J , LANCUCKI L . Cervical screening programme, England: 1997-1998 [J ] . J Med Screen , 1999 , 6 ( 2 ): 57 . DOI: 10.1136/jms.6.2.57 http://doi.org/10.1136/jms.6.2.57 http://journals.sagepub.com/doi/10.1136/jms.6.2.57 http://journals.sagepub.com/doi/10.1136/jms.6.2.57

SENGUPTA S , BOSE S . Peutz-Jeghers syndrome [J ] . N Engl J Med , 2019 , 380 ( 5 ): 472 . DOI: 10.1056/NEJMicm1806623 http://doi.org/10.1056/NEJMicm1806623 http://www.nejm.org/doi/10.1056/NEJMicm1806623 http://www.nejm.org/doi/10.1056/NEJMicm1806623

MONK B J , PARKINSON C , LIM M C , et al . A randomized, phase Ⅲ trial to evaluate rucaparib monotherapy as maintenance treatment in patients with newly diagnosed ovarian cancer (ATHENA-MONO/GOG-3020/ENGOT-ov45) [J ] . J Clin Oncol , 2022 , 40 ( 34 ): 3952 - 3964 . DOI: 10.1200/JCO.22.01003 http://doi.org/10.1200/JCO.22.01003 https://ascopubs.org/doi/10.1200/JCO.22.01003 https://ascopubs.org/doi/10.1200/JCO.22.01003

OAKNIN A , GILBERT L , TINKER A V , et al . Safety and antitumor activity of dostarlimab in patients with advanced or recurrent DNA mismatch repair deficient/microsatellite instability-high (dMMR/MSI-H) or proficient/stable (MMRp/MSS) endometrial cancer: interim results from GARNET-a phase Ⅰ, single-arm study [J ] . J Immunother Cancer , 2022 , 10 ( 1 ): e003777 . DOI: 10.1136/jitc-2021-003777 http://doi.org/10.1136/jitc-2021-003777 https://jitc.bmj.com/lookup/doi/10.1136/jitc-2021-003777 https://jitc.bmj.com/lookup/doi/10.1136/jitc-2021-003777

PETERS S , CHO B C , LUFT A , et al . Association between KRAS / STK 11/ KEAP 1 mutations and outcomes in POSEIDON: durvalumab±tremelimumab+chemotherapy in mNSCLC [C ] . Vienna:2022 World Conference on Lung Cancer , 2022 : abstract 1220 .

ELEJE G U , EKE A C , EZEBIALU I U , et al . Risk-reducing bilateral salpingo-oophorectomy in women with BRCA 1 or BRCA 2 mutations [J ] . Cochrane Database Syst Rev , 2018 , 8 ( 8 ): CD012464 .

LIU Y L , BREEN K , CATCHINGS A , et al . Risk-reducing bilateral salpingo-oophorectomy for ovarian cancer: a review and clinical guide for hereditary predisposition genes [J ] . JCO Oncol Pract , 2022 , 18 ( 3 ): 201 - 209 .

CHEN L M , BLANK S V , BURTON E , et al . Reproductive and hormonal considerations in women at increased risk for hereditary gynecologic cancers: society of gynecologic oncology and American Society for Reproductive Medicine Evidence-based review [J ] . Gynecol Oncol , 2019 , 155 ( 3 ): 508 - 514 . DOI: 10.1016/j.ygyno.2019.06.017 http://doi.org/10.1016/j.ygyno.2019.06.017 https://linkinghub.elsevier.com/retrieve/pii/S0090825819313332 https://linkinghub.elsevier.com/retrieve/pii/S0090825819313332

STANCIU P I , IND T E J , BARTON D P J , et al . Development of peritoneal carcinoma in women diagnosed with serous tubal intraepithelial carcinoma (STIC) following risk-reducing salpingo-oophorectomy (RRSO) [J ] . J Ovarian Res , 2019 , 12 ( 1 ): 50 . DOI: 10.1186/s13048-019-0525-1 http://doi.org/10.1186/s13048-019-0525-1

PINSKY P F , YU K , KRAMER B S , et al . Extended mortality results for ovarian cancer screening in the PLCO trial with median 15 years follow-up [J ] . Gynecol Oncol , 2016 , 143 ( 2 ): 270 - 275 . DOI: 10.1016/j.ygyno.2016.08.334 http://doi.org/10.1016/j.ygyno.2016.08.334 https://linkinghub.elsevier.com/retrieve/pii/S0090825816313610 https://linkinghub.elsevier.com/retrieve/pii/S0090825816313610

SCHMELER K M , LYNCH H T , CHEN L M , et al . Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome [J ] . N Engl J Med , 2006 , 354 ( 3 ): 261 - 269 . DOI: 10.1056/NEJMoa052627 http://doi.org/10.1056/NEJMoa052627 http://www.nejm.org/doi/abs/10.1056/NEJMoa052627 http://www.nejm.org/doi/abs/10.1056/NEJMoa052627

CAPASSO I , SANTORO A , LUCCI CORDISCO E , et al . Lynch syndrome and gynecologic tumors: incidence, prophylaxis, and management of patients with cancer [J ] . Cancers (Basel) , 2023 , 15 ( 5 ): 1400 . DOI: 10.3390/cancers15051400 http://doi.org/10.3390/cancers15051400 https://www.mdpi.com/2072-6694/15/5/1400 https://www.mdpi.com/2072-6694/15/5/1400

SMERDEL M P , SKYTTE A B , JELSIG A M , et al . Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome [J ] . Eur J Med Genet , 2020 , 63 ( 5 ): 103873 . DOI: 10.1016/j.ejmg.2020.103873 http://doi.org/10.1016/j.ejmg.2020.103873 https://linkinghub.elsevier.com/retrieve/pii/S1769721219301338 https://linkinghub.elsevier.com/retrieve/pii/S1769721219301338

SERACCHIOLI R , COLOMBO F M , BAGNOLI A , et al . Primary ovarian leiomyosarcoma as a new component in the nevoid basal cell carcinoma syndrome: a case report [J ] . Am J Obstet Gynecol , 2003 , 188 ( 4 ): 1093 - 1095 .

FOULKES W D , KAMIHARA J , EVANS D G R , et al . Cancer surveillance in gorlin syndrome and rhabdoid tumor predisposition syndrome [J ] . Clin Cancer Res , 2017 , 23 ( 12 ): e62 -e67. DOI: 10.1158/1078-0432.CCR-17-0595 http://doi.org/10.1158/1078-0432.CCR-17-0595 https://aacrjournals.org/clincancerres/article/23/12/e62/80076/Cancer-Surveillance-in-Gorlin-Syndrome-and https://aacrjournals.org/clincancerres/article/23/12/e62/80076/Cancer-Surveillance-in-Gorlin-Syndrome-and

MULLER M , FERLICOT S , GUILLAUD-BATAILLE M , et al . Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers [J ] . Clin Genet , 2017 , 92 ( 6 ): 606 - 615 . DOI: 10.1111/cge.13014 http://doi.org/10.1111/cge.13014

TONOREZOS E S , FRIEDMAN D N , BARNEA D , et al . Recommendations for long-term follow-up of adults with heritable retinoblastoma [J ] . Ophthalmology , 2020 , 127 ( 11 ): 1549 - 1557 . DOI: 10.1016/j.ophtha.2020.05.024 http://doi.org/10.1016/j.ophtha.2020.05.024

SCHRIJVER L H , OLSSON H , PHILLIPS K A , et al . Oral contraceptive use and breast cancer risk: retrospective and prospective analyses from a BRCA 1 and BRCA 2 mutation carrier cohort study [J ] . JNCI Cancer Spectr , 2018 , 2 ( 2 ): pky023 .

SCHRIJVER L H , ANTONIOU A C , OLSSON H , et al . Oral contr aceptive use and ovarian cancer risk for BRCA 1/2 mutation carriers: an international cohort study [J ] . Am J Obstet Gynecol , 2021 , 225 ( 1 ): 51. e1 - 51 .51.e17.

李艳红 , 姚元庆 . 遗传性乳腺癌-卵巢癌综合征 [J ] . 中国实用妇科与产科杂志 , 2006 , 22 ( 9 ): 709 - 710 .

LI Y H , YAO Y Q . Hereditary breast-ovarian cancer syndrome [J ] . Chin J Pract Gynecol Obstet , 2006 , 22 ( 9 ): 709 - 710 .

LU K H , LOOSE D S , YATES M S , et al . Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome [J ] . Cancer Prev Res (Phila) , 2013 , 6 ( 8 ): 774 - 781 . DOI: 10.1158/1940-6207.CAPR-13-0020 http://doi.org/10.1158/1940-6207.CAPR-13-0020 https://aacrjournals.org/cancerpreventionresearch/article/6/8/774/50177/Prospective-Multicenter-Randomized-Intermediate https://aacrjournals.org/cancerpreventionresearch/article/6/8/774/50177/Prospective-Multicenter-Randomized-Intermediate

ANDERSON K , JACOBSON J S , HEITJAN D F , et al . Cost-effectiveness of preventive strategies for women with a BRCA 1 or a BRCA 2 mutation [J ] . Ann Intern Med , 2006 , 144 ( 6 ): 397 - 406 .

GRANN V R , PATEL P R , JACOBSON J S , et al . Comparative effectiveness of screening and prevention strategies among BRCA 1/2-affected mutation carriers [J ] . Breast Cancer Res Treat , 2011 , 125 ( 3 ): 837 - 847 . DOI: 10.1007/s10549-010-1043-4 http://doi.org/10.1007/s10549-010-1043-4 http://link.springer.com/10.1007/s10549-010-1043-4 http://link.springer.com/10.1007/s10549-010-1043-4

BOMMER C , LUPATSCH J , BÜRKI N , et al . Cost-utility analysis of risk-reducing strategies to prevent breast and ovarian cancer in BRCA -mutation carriers in Switzerland [J ] . Eur J Health Econ , 2022 , 23 ( 5 ): 807 - 821 . DOI: 10.1007/s10198-021-01396-9 http://doi.org/10.1007/s10198-021-01396-9

MANCHANDA R , LEGOOD R , ANTONIOU A C , et al . Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysis [J ] . J Med Genet , 2016 , 53 ( 9 ): 591 - 599 . DOI: 10.1136/jmedgenet-2016-103800 http://doi.org/10.1136/jmedgenet-2016-103800 https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103800 https://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103800

MANCHANDA R , LEGOOD R , PEARCE L , et al . Defining the risk threshold for risk reducing salpingo-oophorectomy for ovarian cancer prevention in low risk postmenopausal women [J ] . Gynecol Oncol , 2015 , 139 ( 3 ): 487 - 494 . DOI: 10.1016/j.ygyno.2015.10.001 http://doi.org/10.1016/j.ygyno.2015.10.001

SROCZYNSKI G , GOGOLLARI A , KUEHNE F , et al . A systematic review on cost-effectiveness studies evaluating ovarian cancer early detection and prevention strategies [J ] . Cancer Prev Res (Phila) , 2020 , 13 ( 5 ): 429 - 442 . DOI: 10.1158/1940-6207.CAPR-19-0506 http://doi.org/10.1158/1940-6207.CAPR-19-0506 https://aacrjournals.org/cancerpreventionresearch/article/13/5/429/47395/A-Systematic-Review-on-Cost-effectiveness-Studies https://aacrjournals.org/cancerpreventionresearch/article/13/5/429/47395/A-Systematic-Review-on-Cost-effectiveness-Studies

ZEGERS-HOCHSCHILD F , ADAMSON G D , DYER S , et al . The international glossary on infertility and fertility care, 2017 [J ] . Hum Reprod , 2017 , 32 ( 9 ): 1786 - 1801 . DOI: 10.1093/humrep/dex234 http://doi.org/10.1093/humrep/dex234 https://academic.oup.com/humrep/article/32/9/1786/4049537 https://academic.oup.com/humrep/article/32/9/1786/4049537

GIETEL-HABETS J J , DE DIE-SMULDERS C E , DERKS-SMEETS I A , et al . Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners [J ] . Hum Reprod , 2017 , 32 ( 3 ): 588 - 597 .

DERKS-SMEETS I A , GIETEL-HABETS J J , TIBBEN A , et al . Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer [J ] . Hum Reprod , 2014 , 29 ( 5 ): 1103 - 1112 . DOI: 10.1093/humrep/deu034 http://doi.org/10.1093/humrep/deu034 https://academic.oup.com/humrep/article-lookup/doi/10.1093/humrep/deu034 https://academic.oup.com/humrep/article-lookup/doi/10.1093/humrep/deu034

HODGE J G . Ethical issues concerning genetic testing and screening in public health [J ] . Am J Med Genet C Semin Med Genet , 2004 , 125C ( 1 ): 66 - 70 . DOI: 10.1002/ajmg.c.v125c:1 http://doi.org/10.1002/ajmg.c.v125c:1 https://onlinelibrary.wiley.com/toc/15524876/125C/1 https://onlinelibrary.wiley.com/toc/15524876/125C/1

National Comprehensive Cancer Network . NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast, ovarian, and pancreatic (version 2. 2024) [EB/OL ] . [2023-11-18 ] . https://www.nccn.org. https://www.nccn.org https://www.nccn.org

National Comprehensive Cancer Network . NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal (version 2. 2023) [EB/OL ] . [2023-11-18 ] . https://www.nccn.org. https://www.nccn.org https://www.nccn.org

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

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 .

Family Genetic Oncology Professional Committee of China Anti-Cancer Association . Consensus of clinical diagnosis and treatment experts on familial hereditary tumors in China (2021 edition) (2)-familial hereditary ovarian cancer [J ] . Chin J Clin Oncol , 2021 , 48 ( 24 ): 1243 - 1247 .

中国医师协会妇产科医师分会妇科肿瘤学组 , 中国初级卫生保健基金会妇科肿瘤专业委员会 . Lynch综合征相关性子宫内膜癌筛查与防治中国专家共识(2023年版) [J ] . 中国实用妇科与产科杂志 , 2023 , 39 ( 1 ): 49 - 57 .

Gynecological Oncology Group of the Obstetricians and Gynecologists Branch of the Chinese Medical Association , Gynecological Oncology Professional Committee of the China Primary Health Care Foundation . Chinese expert consensus on screening, prevention and treatment of Lynch syndrome-related endometrial cancer (2023 edition) [J ] . Chin J Pract Gynecol Obstet , 2023 , 39 ( 1 ): 49 - 57 .

徐丛剑 , 康玉 . 实用妇科肿瘤遗传学 [M ] . 北京 : 人民卫生出版社 , 2019 .

XU C J , KANG Y . Practical Gynecological Tumor Genetics [M ] . Beijing : People’s Medical Publishing House , 2019 .

中国抗癌协会 . 中国肿瘤整合诊治指南(CACA) [M ] . 天津 : 天津科学技术出版社 , 2022 .

China Anti-Cancer Association . CACA guidelines for holistic integrative management of cancer [M ] . Tianjin : Tianjin Science and Technology Press , 2022 .

陆国辉 , 张学 . 遗传性肿瘤遗传咨询 [M ] . 北京 : 北京大学医学出版社 , 2021 .

LU G H , ZHANG X . Genetic counseling for hereditary tumors [M ] . Beijing : Peking University Medical Press , 2021 .

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MDT consensus on immunotherapy for locally advanced head and neck squamous cell carcinoma (2025 edition)

Expert consensus on diagnosis and treatment of hematologic malignancies with solid tumors (2025 version)

Expert consensus on the combination of anti-EGFR monoclonal antibodies and immune checkpoint inhibitors in the treatment of head and neck squamous cell carcinoma (2025 edition)

Chinese expert consensus on perioperative integrated rehabilitation for radical prostatectomy (2024 edition)

Expert consensus of ¹⁷⁷Lu-labeled PSMA radioligand therapy for clinical practice of prostate cancer (2024 edition)

Related Author

Chenping ZHANG

Chaosu HU

Ye GUO

Rare Disease Group, Hematology Branch, Chinese Medical Association

Lymphocytic Disease Group, Hematology Branch, Chinese Medical Association

Shanghai Anti Cancer Association Multiple Primary and Unknown Primary Tumor Special Committee

Multiple Primary and Unknown Primary Tumors Special Committee of China Anti-Cancer Association

Liqiong XUE

Related Institution

Committee of Head and Neck Cancer, Chinese Society of Clinical Oncology

Thyroid Cancer Committee of Chinese Society of Clinical Oncology

Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University

Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases

Department of Nursing, Obstetrics and Gynecology Hospital, Fudan University

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