Hereditary breast cancer: clinical, pathological and molecular characteristics
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Hereditary breast cancer : clinical, pathological and molecular characteristics. / Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie; Kruse, Torben A.
I: Breast Cancer: Basic and Clinical Research, Bind 8, 2014, s. 145-155.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Hereditary breast cancer
T2 - clinical, pathological and molecular characteristics
AU - Larsen, Martin J
AU - Thomassen, Mads
AU - Gerdes, Anne-Marie
AU - Kruse, Torben A
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
U2 - 10.4137/BCBCR.S18715
DO - 10.4137/BCBCR.S18715
M3 - Journal article
C2 - 25368521
VL - 8
SP - 145
EP - 155
JO - Breast Cancer
JF - Breast Cancer
SN - 1178-2234
ER -
ID: 137429013