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 : Callé (검색결과 1 건)
- 무료
- 기관 내 무료
- 유료
-
<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Shimelis, Hermela,Mesman, Romy L.S.,Von Nicolai, Catharina,Ehlen, Asa,Guidugli, Lucia,Martin, Charlotte,Callé,ja, Fabienne M.G.R.,Meeks, Huong,Hallberg, Emily,Hinton, Jamie,Lilyquist, Jenna,Hu, American Association for Cancer Research 2017 Cancer Research Vol.77 No.11
<P>These results show how BRCA2 missense variants that partially influence protein function can confer clinically relevant increased risks of breast cancer, with potential implications for risk management of women who harbor specific variants.</P><P>Breast cancer risks conferred by many germline missense variants in the <I>BRCA1</I> and <I>BRCA2</I> genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case–control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <I>P</I> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <I>P</I> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <I>P</I> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <I>P</I> = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. <I>Cancer Res; 77(11); 2789–99. ©2017 AACR</I>.</P>
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
