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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Hereditary breast cancer: clinical, pathological and molecular characteristics

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  1. Electrochemotherapy for Breast Cancer-Results From the INSPECT Database

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  2. Risk of skin cancer following tamoxifen treatment in more than 16,000 breast cancer patients: a cohort study

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  1. Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia

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  2. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

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  3. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

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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 non-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.

Original languageEnglish
JournalBreast Cancer
Volume8
Pages (from-to)145-55
Number of pages11
ISSN1178-2234
DOIs
Publication statusPublished - 2014

ID: 45089282