Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F15%3A10313897" target="_blank" >RIV/00216208:11140/15:10313897 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/75010330:_____/15:00011054 RIV/00216208:11120/15:43910482

Výsledek na webu

<a href="http://www.biomed.cas.cz/physiolres" target="_blank" >http://www.biomed.cas.cz/physiolres</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma

Popis výsledku v původním jazyce

The aim of the present study was to introduce methods for exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play a putative role in breast cancer progression and prognosis of patients. We performed nextgeneration sequencing targeted at analysis of all exons in ABCC8 and ABCD2 genes and surrounding noncoding sequences in blood DNA samples from 24 patients with breast cancer. The revealed alterations were characterized by in silico tools. We then compared the most frequent functionally relevant polymorphism rs757110 in ABCC8 with clinical data of patients. In total, the study identified 113 genetic alterations (>70 % novel ones) in both genes. Of these alterations, 83 were noncoding, 13 synonymous, 10frameshifts and 7 were missense alterations. Four in silico programs predicted pathogenicity of two polymorphisms and four newly identified alterations. Rs757110 polymorphism in ABCC8 did not significantly associate with clinical data of

Název v anglickém jazyce

Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma

Popis výsledku anglicky

The aim of the present study was to introduce methods for exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play a putative role in breast cancer progression and prognosis of patients. We performed nextgeneration sequencing targeted at analysis of all exons in ABCC8 and ABCD2 genes and surrounding noncoding sequences in blood DNA samples from 24 patients with breast cancer. The revealed alterations were characterized by in silico tools. We then compared the most frequent functionally relevant polymorphism rs757110 in ABCC8 with clinical data of patients. In total, the study identified 113 genetic alterations (>70 % novel ones) in both genes. Of these alterations, 83 were noncoding, 13 synonymous, 10frameshifts and 7 were missense alterations. Four in silico programs predicted pathogenicity of two polymorphisms and four newly identified alterations. Rs757110 polymorphism in ABCC8 did not significantly associate with clinical data of

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Physiological Research

ISSN

0862-8408

e-ISSN

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Svazek periodika

64

Číslo periodika v rámci svazku

Suppl. 4

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

9

Strana od-do

"S549"-"S557"

Kód UT WoS článku

000367548600014

EID výsledku v databázi Scopus

2-s2.0-84952649218