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Surgical Pathology Clinics

Genotype-Phenotype Correlations in Breast Cancer

  • Jonathan D. Marotti
    Affiliations
    Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA

    Department of Pathology and Laboratory Medicine, Geisel School of Medicine at Dartmouth, One Rope Ferry Road, Hanover, NH 03755-1404, USA
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  • Stuart J. Schnitt
    Correspondence
    Corresponding author.
    Affiliations
    Department of Pathology, Brigham and Women’s Hospital, Dana-Farber Cancer Institute, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
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Published:December 14, 2017DOI:https://doi.org/10.1016/j.path.2017.09.008

      Abstract

      Only a few breast cancer histologic subtypes harbor distinct genetic alterations that are associated with a specific morphology (genotype-phenotype correlation). Secretory carcinomas and adenoid cystic carcinomas are each characterized by recurrent translocations, and invasive lobular carcinomas frequently have CDH1 mutations. Solid papillary carcinoma with reverse polarity is a rare breast cancer subtype with a distinctive morphology and recently identified IDH2 mutations. We review the clinical and pathologic features and underlying genetic alterations of those breast cancer subtypes with established genotype-phenotype correlations and discuss the phenotypes associated with germline mutations in genes associated with hereditary breast cancer.

      Keywords

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