Genetic and Genomic Advances in Breast Cancer Diagnosis and Treatment

Published:October 25, 2019DOI:


      Advances in genetic testing for people at high risk for cancer and in targeted gene therapy for breast cancer are rapidly emerging, including newly developed key hormone receptor–targeted therapies and individualized molecular fusion identification and treatment options. These advances are contributing to a new era in cancer treatment modalities and care delivery. As more innovative and advanced treatment options emerge, women's health outcomes and survival rates may improve. Nursing professionals in primary care and women’s health specialties must be aware of the latest options for testing, referrals, and treatment modalities.


      To read this article in full you will need to make a payment
      AWHONN Member Login
      AWHONN Members, full access to the journal is a member benefit. Use your society credentials to access all journal content and features
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Purchase one-time access:

      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Akoz G.
        • Diniz G.
        • Ekmekci S.
        • Ekin Z.Y.
        • Uncel M.
        Evaluation of human epididymal secretory protein 4 expression according to the molecular subtypes (luminal A, luminal B, human epidermal growth factor receptor 2-positive, triple-negative) of breast cancer.
        Indian Journal of Pathology & Microbiology. 2018; 61: 323-329
        • American Cancer Society
        Breast cancer: Facts and figures 2017-2018.
        (Retrieved from)
        • American Nurses Association and International Society of Nurses in Genetics
        Genetics/genomics nursing: Scope and standards of practice.
        Silver Spring, MD2007 (
        • Banegas M.P.
        • Gail M.H.
        • LaCroix A.
        • Thompson B.
        • Martinez M.E.
        • Wactawski-Wende J.
        • Katki H.A.
        Evaluating breast cancer risk projections for Hispanic women.
        Breast Cancer Research and Treatment. 2012; 132: 1-11
        • Blumen H.
        • Fitch K.
        • Polkus V.
        Comparison of treatment costs for breast cancer, by tumor stage and type of service.
        American Health & Drug Benefits. 2016; 9: 23-32
      1. (2018). Genetic tests you can purchase on your own. Retrieved from

        • Centers for Disease Control and Prevention
        National breast & cervical cancer early detection program (NBCCEDP): About the program.
        (Retrieved from)
        • Chiu A.M.
        • Mitra M.
        • Boymoushakian L.
        • Coller H.A.
        Integrative analysis of the inter-tumoral heterogeneity of triple-negative breast cancer.
        Scientific Reports. 2018; 8: 11807
        • Cobain E.F.
        • Milliron K.J.
        • Merajver S.D.
        Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.
        Seminars in Oncology. 2016; 43: 528-535
      2. Color Genomics. (2018). Learn your risk for hereditary breast and ovarian cancer. Retrieved from

        • Eccles S.A.
        • Aboagye E.O.
        • Ali S.
        • Anderson A.S.
        • Armes J.
        • Berditchevski F.
        • Thompson A.M.
        Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer.
        Breast Cancer Research. 2013; 15: R92
      3. Genetic Information Nondiscrimination Act of 2008, Pub. L. No. 110-233.
        (Retrieved from)
        • Goncalves R.
        • Warner W.A.
        • Luo J.
        • Ellis M.J.
        New concepts in breast cancer genomics and genetics.
        Breast Cancer Research. 2014; 16: 460
        • Hickey K.T.
        • Taylor J.Y.
        • Barr T.L.
        • Hauser N.R.
        • Jia H.
        • Riga T.C.
        • Katapodi M.
        Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey.
        Nurse Education Today. 2018; 63: 12-17
        • Huddleston K.
        Ethics: The challenge of ethical, legal, and social implications (ELSI) in genomic nursing.
        Online Journal of Issues in Nursing. 2013; 19: 6
        • Huston C.
        The impact of emerging technology on nursing care: Warp speed ahead.
        Online Journal of Issues in Nursing. 2013; 18: 1
        • Mahon S.M.
        Risk assessment, prevention, and early detection: Challenges for the advanced practice nurse.
        Seminars in Oncology Nursing. 2015; 31: 306-326
        • Mahon S.M.
        • Crecelius M.E.
        Practice considerations in providing cancer risk assessment and genetic testing in women’s health.
        Journal of Obstetric, Gynecologic, & Neonatal Nursing. 2013; 42: 274-286
        • McAllister K.A.
        • Schmitt M.L.
        Impact of a nurse navigator on genomic testing and timely treatment decision making in patients with breast cancer.
        Clinical Journal of Oncology Nursing. 2015; 19: 510-512
        • Merry D.
        • Schickhardt C.
        • Mehlis K.
        • Winkler E.C.
        Trust and responsibility in molecular tumour boards.
        Bioethics. 2018; 32: 464-472
        • National Cancer Institute
        (n.d.). Breast cancer risk assessment tool: Risk calculator.
        (Retrieved from)
        • National Cancer Institute
        Breast cancer risk assessment tool.
        (Retrieved from)
        • National Cancer Institute
        Breast cancer treatment (adult) (PDQ®)—Health professional version.
        (Retrieved from)
        • National Cancer Institute
        BRCA mutations: Cancer risk and genetic testing.
        (Retrieved from)
        • National Cancer Institute
        Cancer stat facts: Female breast cancer.
        (Retrieved from)
        • National Human Genome Research Institute
        Genetic discrimination.
        (Retrieved from)
        • Natrajan R.
        • Mackay A.
        • Lambros M.B.
        • Weigelt B.
        • Wilkerson P.M.
        • Manie E.
        • Reis-Filho J.S.
        A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor negative and positive breast cancers.
        Journal of Pathology. 2012; 227: 29-41
        • Natrajan R.
        • Tutt A.N.J.
        • Lord C.J.
        Driver oncogenes but not as we know them: Targetable fusion genes in breast cancer.
        Cancer Discovery. 2018; 8: 272
        • Niravath P.
        • Cakar B.
        • Ellis M.
        The role of genetic testing in the selection of therapy for breast cancer.
        JAMA Oncology. 2017; 3: 262-268
        • Online Mendelian Inheritance in Man
        Breast-ovarian cancer, familial, susceptibility to, 1; BROVCA1.
        (Retrieved from)
        • Online Mendelian Inheritance in Man
        Breast-ovarian cancer, familial, susceptibility to, 2; BROVCA2.
        (Retrieved from)
        • Schonfeld S.J.
        • Pee D.
        • Greenlee R.T.
        • Hartge P.
        • Lacey Jr., J.V.
        • Park Y.
        • Pfeiffer R.M.
        Effect of changing breast cancer incidence rates on the calibration of the Gail model.
        Journal of Clinical Oncology. 2010; 28: 2411-2417
        • Swanton C.
        • McGranahan N.
        • Starrett G.J.
        • Harris R.S.
        APOBEC enzymes: Mutagenic fuel for cancer evolution and heterogeneity.
        Cancer Discovery. 2015; 5: 704
        • U.S. Equal Employment Opportunity Commission. (n.d.)
        The Genetic Information Nondiscrimination Act of 2008.
        (Retrieved from)
        • U.S. Preventive Services Task Force
        Breast cancer: Screening.
        (Retrieved from)
        • U.S. Preventive Services Task Force
        Final update summary: BRCA related cancer: Risk assessment, genetic counseling, and genetic testing.
        (Retrieved from)
        • Vendrell J.A.
        • Vilquin P.
        • Larrieux M.
        • Van Goethem C.
        • Solassol J.
        Benchmarking of amplicon-based next-generation sequencing panels combined with bioinformatics solutions for germline BRCA1 and BRCA2 alteration detection.
        Journal of Molecular Diagnostics. 2018; 20: 754-764


      Tammy L. Walker-Smith, DNP, MHA, MSN, APRN, FNP-C, is an assistant professor, College of Nursing & Health Sciences, Texas A&M University, Corpus Christi, TX.


      Jessica Peck, DNP, APRN, CPNP-PC, CNE, CNL, FAANP, is an associate professor, College of Nursing & Health Sciences, Texas A&M University, Corpus Christi, TX.