Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F16%3A10325552" target="_blank" >RIV/00216208:11110/16:10325552 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1016/j.breast.2016.05.006" target="_blank" >http://dx.doi.org/10.1016/j.breast.2016.05.006</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.breast.2016.05.006" target="_blank" >10.1016/j.breast.2016.05.006</a>

Result language

angličtina

Original language name

Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management

Original language description

The presence of breast cancer in any first-degree female relative in general nearly doubles the risk for a proband and the risk gradually increases with the number of affected relatives. Current advances in molecular oncology and oncogenetics may enable the identification of high-risk individuals with breast-cancer predisposition. The best-known forms of hereditary breast cancer (HBC) are caused by mutations in the high-penetrance genes BRCA1 and BRCA2. Other genes, including PTEN, TP53, STK11/LKB1, CDH1, PALB2, CHEK2, ATM, MRE11, RAD50, NBS1, BRIP1, FANCA, FANCC, FANCM, RAD51, RAD51B, RAD51C, RAD51D, and XRCC2 have been described as high-or moderate-penetrance breast cancer-susceptibility genes. The majority of breast cancer-susceptibility genes code for tumor suppressor proteins that are involved in critical processes of DNA repair pathways. This is of particular importance for those women who, due to their increased risk of breast cancer, may be subjected to more frequent screening but due to their repair deficiency might be at the risk of developing radiation-induced malignancies. It has been proven that cancers arising from the most frequent BRCA1 gene mutation carriers differ significantly from the sporadic disease of age-matched controls in their histopathological appearances and molecular characteristics. The increased depth of mutation detection brought by next-generation sequencing and a better understanding of the mechanisms through which these mutations cause the disease will bring novel insights in terms of oncological prevention, diagnostics, and therapeutic options for HBC patients.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

<a href="/en/project/NT14054" target="_blank" >NT14054: Targeted NEXT-GEN sequencing as a tool for identification of the new breast cancer susceptibility genes in high-risk patients</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Breast

ISSN

0960-9776

e-ISSN

—

Volume of the periodical

28

Issue of the periodical within the volume

August

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

136-144

UT code for WoS article

000379683300020

EID of the result in the Scopus database

2-s2.0-84974628462