Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics

Breast Cancer: Basic and Clinical Research

Review

Martin J. Larsen¹  Torben A. Kruse¹  Mads Thomassen¹  Anne-Marie Gerdes² 

[1] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.;Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.;

关键词: hereditary breast cancer;    molecular profiling;    microarray;    review;    clinical genetics;    BRCA1/2;   

DOI  :  10.4137/BCBCR.S18715

 received in 2014-07-17, accepted in 2014-08-27,  发布年份 2014

来源: Sage Journals

【 摘 要 】

Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial npn-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well as the latest advances in predicting BRCA1/2 involvement (BRCAness) using molecular signatures, for improved diagnostics and selection of patients sensitive to targeted therapeutics.

【 授权许可】

CC BY-NC   
© 2014 SAGE Publications.