http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : Kuchenbaeker, Karoline B. (검색결과 1 건)
- 무료
- 기관 내 무료
- 유료
-
Hamdi, Yosr,Soucy, Penny,Kuchenbaeker, Karoline B.,Pastinen, Tomi,Droit, Arnaud,Lemaç,on, Audrey,Adlard, Julian,Aittomä,ki, Kristiina,Andrulis, Irene L.,Arason, Adalgeir,Arnold, Norbert,Arun Springer US 2017 Breast cancer research and treatment Vol.161 No.1
<P><B>Purpose</B></P><P><I>Cis</I>-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among <I>BRCA1</I> and <I>BRCA2</I> mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.</P><P><B>Methods</B></P><P>Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 <I>BRCA1</I> and 8211 <I>BRCA2</I> mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of <I>BRCA1/2</I>.</P><P><B>Results</B></P><P>We identified a region on 11q22.3 that is significantly associated with breast cancer risk in <I>BRCA1</I> mutation carriers (most significant SNP rs228595 <I>p</I> = 7 × 10<SUP>−6</SUP>). This association was absent in <I>BRCA2</I> carriers (<I>p</I> = 0.57). The 11q22.3 region notably encompasses genes such as <I>ACAT1</I>, <I>NPAT</I>, and <I>ATM</I>. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for <I>ACAT1</I>, <I>ATM</I>, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.</P><P><B>Conclusion</B></P><P>We identified 11q22.3 as a new modifier locus in <I>BRCA1</I> carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.</P><P><B>Electronic supplementary material</B></P><P>The online version of this article (doi:10.1007/s10549-016-4018-2) contains supplementary material, which is available to authorized users.</P>
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
