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Phenotype-Genotype Correlation in Familial Breast Cancer

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Abstract

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.

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Acknowledgements

ACV is a clinical fellow funded by the Ludwig Institute for Cancer Research (LICR). JSR-F is funded in part by Breakthrough Breast Cancer Research Centre. JSR-F is the recipient of the 2010 CRUK Future Leaders Prize.

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Authors and Affiliations

  1. UQ Centre for Clinical Research, The University of Queensland, Brisbane, Australia

    Ana Cristina Vargas & Sunil R. Lakhani

  2. The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK

    Jorge S. Reis-Filho

  3. School of Medicine, The University of Queensland, Brisbane, Australia

    Sunil R. Lakhani

  4. Pathology Queensland, The Royal Brisbane & Women’s Hospital, Brisbane, Australia

    Sunil R. Lakhani

  5. The University of Queensland Centre for Clinical Research, Royal Brisbane & Women’s Hospital, Building 71 (918), Herston, 4029, QLD, Australia

    Sunil R. Lakhani

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  1. Ana Cristina Vargas
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Vargas, A.C., Reis-Filho, J.S. & Lakhani, S.R. Phenotype-Genotype Correlation in Familial Breast Cancer. J Mammary Gland Biol Neoplasia 16, 27–40 (2011). https://doi.org/10.1007/s10911-011-9204-6

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