Breast diseases

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Familial breast cancer

Africa

• International Journal of Breast Cancer
  • Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine [2016]

Asia

• Journal of Medical Genetics
  • Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries [2015]

Canada

• Canadian Family Physician
  • Identification and management of women with a family history of breast cancer: Practical guide for clinicians [2016]

China

• Chinese Medical Journal
  • Clinical practice guideline of BRCA1/2 testing for patients with breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guideline 2021 [2021]

• Journal of Epidemiology
  • Hereditary Breast Cancer in the Han Chinese Population [2013]

• PLoS ONE
  • Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing [2015]

Europe

• European Journal of Cancer
  • Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations [2019]

• European Society for Medical Oncology
  • BRCA in breast cancer: ESMO Clinical Practice Guidelines [2011]

• Journal of Community Genetics
  • Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany [2011]

France

• Oncologist
  • Factors Influencing Adherence to the Risk Management Program for Women With a Genetic Predisposition to Breast Cancer: Real-World Data from a French Multicenter Program [2024]

Germany

• Cancer Medicine
  • Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer [2018]

International

• Breast
  • Combined breast conservation therapy versus mastectomy for BRCA mutation carriers – A systematic review and meta-analysis [2021]

• Breast Cancer Research
  • Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers [2020]

• Cancer Management and Research
  • A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer [2019]

• Cancer Medicine
  • A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How? [2021]

• Clinical Epidemiology
  • A systematic review of the international prevalence of BRCA mutation in breast cancer [2019]

• New England Journal of Medicine
  • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk [2015]

Iran

• Journal of Research in Medical Sciences
  • BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review [2015]

Ireland

• Health Information and Quality Authority
  • HTA of High Risk Breast Cancer Surveillance [2013]

Italy

• Breast
  • PARP-inhibitors for BRCA1/2-related advanced HER2-negative breast cancer: A meta-analysis and GRADE recommendations by the Italian Association of Medical Oncology [2022]

• Cancer Treatment Reviews
  • Parp-inhibitors in the therapeutic landscape of breast cancer patients with BRCA1 and BRCA2 pathogenic germline variants: An Italian consensus paper and critical review [2024]

• Current Oncology
  • BRCA Testing for Patients Treated in Italy: A National Survey of Breast Centers Associated with Senonetwork [2024]

Japan

• Journal of Human Genetics
  • The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database [2021]

• 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]

Latin America

• Revista de Investigación Clínica
  • Genetic Cancer Risk Assessment for Breast Cancer in Latin America [2017]

Low and middle income countries

• BMC Cancer
  • Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review [2024]

Netherlands

• European Journal of Human Genetics
  • Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population [2014]

• Journal of Medical Genetics
  • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases [2023]

Norway

• BMC Cancer
  • Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers [2017]

Republic of Korea

• Archives of Plastic Surgery
  • Perceptions of Prophylactic Mastectomy in Korea [2016]

• Cancer Research and Treatment
  • Implementation of BRCA Test among Young Breast Cancer Patients in South Korea: A Nationwide Cohort Study [2024]

• International Journal of Environmental Research and Public Health
  • Association of Family History with the Development of Breast Cancer: A Cohort Study of 129,374 Women in KoGES Data [2021]

• JAMA Network Open
  • Association of Breast Cancer Family History With Breast Density Over Time in Korean Women [2023]

• Journal of Breast Cancer
  • The Korean Hereditary Breast Cancer Study: Review and Future Perspectives [2013]

Slovenia

• European Journal of Surgical Oncology
  • Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in Slovenia [2021]

Spain

• PLoS ONE
  • Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM “El Álamo III” retrospective study [2017]

• Sociedad Española de Oncología Médica
  • SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) [2023]

Thailand

• Frontiers in Public Health
  • A cost-utility analysis of BRCA1 and BRCA2 testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings [2023]

United Arab Emirates

• Breast
  • Clinicopathological characteristics of gene-positive breast cancer in the United Arab Emirates [2020]

United Kingdom

• Breast Cancer Research and Treatment
  • Family history and risk of breast cancer: an analysis accounting for family structure [2017]

• British Journal of General Practice
  • Dealing with family history of breast cancer: something new, something old [2014]

• Journal of Community Genetics
  • Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England [2021]

• Journal of Medical Genetics
  • Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services [2021]

• National Institute for Health and Care Excellence
  • Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer [2023]

United States

• Agency for Healthcare Research and Quality
  • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer [2013]

• American Journal of Human Genetics
  • Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer [2016]

• American Society for Radiation Oncology
  • ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer [2020]

• American Society of Breast Surgeons
  • Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons [2019]

• American Society of Clinical Oncology
  • Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline Q and A [2024]
  • Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline [2024]
  • Adjuvant PARP Inhibitors in Patients With High-Risk Early-Stage HER2-Negative Breast Cancer and Germline BRCA Mutations: ASCO Hereditary Breast Cancer Guideline Rapid Recommendation Update [2021]
  • Management of Hereditary Breast Cancer

• Breast Cancer
  • Do current family history-based genetic testing guidelines contribute to breast cancer health inequities? [2022]

• Breast Cancer Research and Treatment
  • Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations [2022]

• Breast Cancer Surveillance Consortium
  • Family History and Breast Cancer Risk Among Older Women in the Breast Cancer Surveillance Consortium Cohort [2018]
  • Family history of breast cancer, breast density, and breast cancer risk in a U.S. breast cancer screening population [2017]
  • Emerging Trends in Family History of Breast Cancer and Associated Risk [2017]

• Journal of Community Genetics
  • Psychosocial approaches to participation in BRCA1/2 genetic risk assessment among African American women: a systematic review [2014]

{Related topics}

• Topic
  • Hereditary gynecologic cancer, genetic predisposition
  • Gynecologic oncology
  • Breast cancer risk
  • Breast cancer