Female genital neoplasms

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Hereditary gynecologic cancer, genetic predisposition

Americas

• JCO Global Oncology
  • Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study [2022]

Arab countries

• BMC Cancer
  • Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis [2019]

Asia

• Asia-Pacific Journal of Clinical Oncology
  • Current practices and challenges in genetic testing and counseling for women with breast and ovarian cancer in Asia [2024]

Australasia, Europe, United States

• American Journal of Human Genetics
  • Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel [2024]

Australia

• Hereditary Cancer in Clinical Practice
  • Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice [2021]

• Royal Australian College of General Practitioners
  • Familial breast and ovarian cancer

Austria

• Archives of Gynecology and Obstetrics
  • AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS) [2017]

Belgium

• Collège Belge de Génétique
  • Belgian guidelines for Managing Hereditary Breast and Ovarian Cancer: 05/2023 Update [2023]

Brazil

• European Journal of Medical Research
  • Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario [2024]

• JCO Global Oncology
  • Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil [2020]

Canada

• BC Cancer Agency
  • Hereditary Breast and Ovarian Cancer Syndrome [2018]

• JAMA Network Open
  • Economic Evaluation of Population-Based BRCA1 and BRCA2 Testing in Canada [2024]

• Ontario Health
  • Hereditary Cancer Testing Eligibility Criteria: Version 3.1 [2024]
  • Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline [2021]

• Society of Obstetricians and Gynaecologists of Canada
  • Gynaecologic Management of Hereditary Breast and Ovarian Cancer [2018]

Caribbean

• JAMA Network Open
  • Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean [2021]

China

• Frontiers in Public Health
  • Cost-effectiveness analysis of population-based BRCA1/2 testing, family-history-based BRCA1/2 testing, and symptom-based screening for breast and ovarian cancer in China [2025]

Europe

• European Molecular Genetics Quality Network
  • EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer [2024]
  • A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories [2017]

• European Society for Medical Oncology
  • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline [2023]
  • Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening [2016]

France

• Cancers
  • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing [2021]

• Frontiers in Oncology
  • GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers [2018]

Germany

• Geburtshilfe und Frauenheilkunde
  • Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer [2020]

• Journal of Cancer Research and Clinical Oncology
  • The risk of endocrine interventions in carriers of a genetic predisposition for breast and gynecologic cancers: recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer [2024]

High-income countries

• American Journal of Obstetrics & Gynecology
  • Quality of life after risk-reducing surgery for breast and ovarian cancer prevention: a systematic review and meta-analysis [2023]

• BMJ Open
  • Decision aids for female BRCA mutation carriers: a scoping review [2024]

• International Journal of Gynecology & Obstetrics
  • Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries [2024]

India

• JCO Global Oncology
  • Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology [2020]

International

• Breast Cancer Research and Treatment
  • An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers [2016]

• European Journal of Cancer
  • Clinical practice guidelines for BRCA1 and BRCA2 genetic testing [2021]

• Genetics in Medicine
  • The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome [2019]

• Journal of Medical Economics
  • A review of the cost-effectiveness of genetic testing for germline variants in familial cancer [2023]

• Journal of Oncology
  • Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines [2020]

• npj Genomic Medicine
  • Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices [2018]

Israel

• Breast Care
  • Large-Scale Population Screening for BRCA1 and BRCA2 Ashkenazi Founder Mutations: Perspectives of Professionals Providing Oncogenetic Consultations [2025]

• Israel Medical Association Journal
  • Variations in Practice and Geographic Disparities Between Dedicated Multidisciplinary Clinics for BRCA1/BRCA2 Mutation Carriers in Israel [2023]

Japan

• Journal of Gynecologic Oncology
  • Current status of hereditary breast and ovarian cancer practice among gynecologic oncologists in Japan: a nationwide survey by the Japan Society of Gynecologic Oncology (JSGO) [2022]

• Scientific Reports
  • Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan [2023]

Mexico

• Journal of Medicine and Life
  • Pathogenic variants in BRCA1 and BRCA2 genes associated with female breast and ovarian cancer in the Mexican population [2025]

North Africa

• BMC Cancer
  • Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa [2022]

Republic of Korea

• Cancers
  • A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study [2021]

• Journal of Gynecologic Oncology
  • Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO) [2016]

Singapore

• Annals Academy of Medicine Singapore
  • Singapore Cancer Network (SCAN) Guidelines for Referral for Genetic Evaluation of Common Hereditary Cancer Syndromes [2015]

Slovenia

• BMC Cancer
  • Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines [2021]

• Scientific Reports
  • Assessment of pathogenic variation in gynecologic cancer genes in a national cohort [2023]

South Asia

• Journal of International Medical Research
  • BRCA1/ BRCA2 mutation spectrum analysis in South Asia: a systematic review [2022]

Spain

• Sociedad Española de Oncología Médica
  • SEOM clinical guidelines in hereditary breast and ovarian cancer (2019) [2020]

Switzerland

• European Journal of Health Economics
  • Cost-utility analysis of risk-reducing strategies to prevent breast and ovarian cancer in BRCA-mutation carriers in Switzerland [2022]

• Swiss Medical Weekly
  • Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer [2021]

United Kingdom

• Association of Breast Surgery
  • Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice [2024]

• Breast Cancer Research
  • Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE [2025]

• Health Technology Assessment
  • Gynaecological cancer surveillance for women with Lynch syndrome: systematic review and cost-effectiveness evaluation [2024]

• Journal of Medical Genetics
  • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2 [2023]
  • Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group [2018]

• NHS England
  • Genetic Testing for BRCA1 and BRCA2 Mutations [2015]

United States

• American College of Medical Genetics and Genomics
  • Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [2023]
  • A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment [2015]

• American College of Obstetricians and Gynecologists
  • Hereditary Cancer Syndromes and Risk Assessment [2019]
  • Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer [2018]

• American Society of Clinical Oncology
  • Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline [2024]

• Cancer
  • BRCA testing in unaffected young women in the United States, 2006-2017 [2020]

• Centers for Disease Control and Prevention
  • BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18–64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas — United States, 2009–2014 [2017]
  • Hereditary Breast and Ovarian Cancer

• EBioMedicine
  • Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis [2025]
  • Prediction of Cancer Prevention: From Mammogram Screening to Identification of BRCA1/2 Mutation Carriers in Underserved Populations [2015]

• GeneReviews
  • BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer

• Hereditary Cancer in Clinical Practice
  • Evaluation and comparison of hereditary Cancer guidelines in the population [2021]

• JAMA Network Open
  • Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention [2024]
  • Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer [2024]
  • Trends in Positive BRCA Test Results Among Older Women in the United States, 2008-2018 [2020]

• JNCCN
  • Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer [2023]

• National Cancer Institute
  • Genetics of Breast and Gynecologic Cancers (PDQ®)
  • BRCA1 and BRCA2: Cancer Risks and Management (PDQ®)
  • BRCA Gene Changes: Cancer Risk and Genetic Testing Fact Sheet

• National Comprehensive Cancer Network
  • NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 [2023]
  • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology [2021]
  • Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate

• National Society of Genetic Counselors
  • Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors [2021]

• Society of Gynecologic Oncology
  • Genetics Toolkit [2020]
  • 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 [2019]
  • Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper [2017]
  • Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions [2015]

• StatPearls
  • BRCA1 and BRCA2 Mutations

• U.S. Preventive Services Task Force
  • BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing [2024]

{Related topics}

• Topic
  • Gynecologic oncology
  • Familial breast cancer