Phenotype-Genotype Correlation in Familial Breast Cancer

  • Ana Cristina Vargas
  • Jorge S. Reis-Filho
  • Sunil R. Lakhani


Familial breast cancer accounts for a small but significant proportion of breast cancer cases worldwide. Identification of the candidate genes is always challenging specifically in patients with little or no family history. Therefore, a multidisciplinary team is required for the proper detection and further management of these patients. Pathologists have played a pivotal role in the cataloguing of genotypic-phenotypic correlations in families with hereditary cancer syndromes. These efforts have led to the identification of histological and phenotypic characteristics that can help predict the presence or absence of germline mutations of specific cancer predisposition genes. However, the panoply of cancer phenotypes associated with mutations of genes other than in BRCA1 is yet to be fully characterised; in fact, many cancer syndromes, germline mutations and gene sequence variants are under investigation for their possible morphological associations. Here we review the current understanding of phenotype-genotype correlation in familial breast cancer.


Familial breast cancer Germline mutation Phenotype Pathology 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Ana Cristina Vargas
    • 1
  • Jorge S. Reis-Filho
    • 2
  • Sunil R. Lakhani
    • 1
    • 3
    • 4
    • 5
  1. 1.UQ Centre for Clinical ResearchThe University of QueenslandBrisbaneAustralia
  2. 2.The Breakthrough Breast Cancer Research CentreInstitute of Cancer ResearchLondonUK
  3. 3.School of MedicineThe University of QueenslandBrisbaneAustralia
  4. 4.Pathology QueenslandThe Royal Brisbane & Women’s HospitalBrisbaneAustralia
  5. 5.The University of Queensland Centre for Clinical ResearchRoyal Brisbane & Women’s HospitalHerstonAustralia

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