High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
Author:
Funder
Funder ir Ministry of Education and Science, Republic of Latvia
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Oncology
Link
http://link.springer.com/content/pdf/10.1186/s13053-018-0094-0.pdf
Reference35 articles.
1. Oosterwijk JC, de Vries J, Mourits MJ, de Bock GH. Genetic testing and familial implications in breast-ovarian cancer families. Maturitas. 2014;78:252.
2. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032.
3. Plakhins G, Irmejs A, Gardovskis A, Subatniece S, Rozite S, Bitina M, Keire G, Purkalne G, Teibe U, Trofimovics G, Miklasevics E, Gardovskis J. Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia. BMC Med Genet. 2011;12:147.
4. Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Teten RT, Kondoff MR, Molina AD, Abdollahian M, Brand L, Walker GS, Sutphen R. American BRCA outcomes and utilization of testing (ABOUT) study: a pragmatic research model that incorporates personalized medicine/patient-centered outcomes in a real world setting. J Genet Couns. 2015;24:18–28.
5. Tihomirova L, Vaivade I, Fokina O, Peculis R, Mandrika I, Sinicka O, Stengrevics A, Krilova A, Keire G, Petrevics J, Eglitis J, Timofejevs M, Leja M. BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. Adv Med Sci. 2014;59(1):114–9.
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer;Cancer Medicine;2024-02
2. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility;Cancers;2022-09-28
3. A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review;Hereditary Cancer in Clinical Practice;2021-01-19
4. Incidence and mortality of ovarian cancer at the global, regional, and national levels, 1990–2017;Gynecologic Oncology;2020-10
5. Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations;Genes;2020-07-15
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3