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Prostate Cancer Risk by BRCA2 Genomic Regions

机译:按 BRCA2 基因组区域划分的前列腺癌风险

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摘要

A BRCA2 prostate cancer cluster region (PCCR) was recently proposed (c.7914 to 3') wherein pathogenic variants (PVs) are associated with higher prostate cancer (PCa) risk than PVs elsewhere in the BRCA2 gene. Using a prospective cohort study of 447 male BRCA2 PV carriers recruited in the UK and Ireland from 1998 to 2016, we estimated standardised incidence ratios (SIRS) compared with population incidences and assessed variation in risk by PV location. Carriers of PVs in the PCCR had a PCa SIR of 8.33 (95 confidence interval CI 4.46-15.6) and were at a higher risk of PCa than carriers of other BRCA2 PVs (SIR= 3.31, 95 CI 1.97-5.57; hazard ratio = 2.34, 95 CI 1.09-5.03). PCCR PV carriers had an estimated cumulative PCa risk of 44 (95 CI 23-72) by the age of 75 yr and 78 (95 CI 54-94) by the age of 85 yr. Our results corroborate the existence of a PCCR in BRCA2 in a prospective cohort.
机译:最近提出了 BRCA2 前列腺癌簇区 (PCCR)(c.7914 至 3'),其中致病变异 (PV) 与 BRCA2 基因其他部位的 PV 相比,前列腺癌 (PCa) 风险更高。使用对 1998 年至 2016 年在英国和爱尔兰招募的 447 名男性 BRCA2 PV 携带者的前瞻性队列研究,我们估计了标准化发病率 (SIRS) 与人群发病率的比较,并评估了 PV 位置的风险变化。PCCR中PV携带者的PCa SIR为8.33(95%置信区间[CI] 4.46-15.6),PCa风险高于其他BRCA2 PV携带者(SIR= 3.31,95%CI 1.97-5.57;风险比= 2.34,95%CI 1.09-5.03)。PCCR PV 携带者在 75 岁时估计累积 PCa 风险为 44%(95% CI 23-72%),到 85 岁时为 78%(95% CI 54-94%)。我们的研究结果证实了前瞻性队列中 BRCA2 中 PCCR 的存在。

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  • 来源
    《European urology》 |2020年第4期|494-497|共4页
  • 作者单位

    Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England;

    Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Reg Genet Serv, Manchester, Lancs, England;

    Inst Canc Res, Div Genet & Epidemiol, Oncogenet Team, London, EnglandLeeds Teaching Hosp NHS Trust, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, EnglandGreat Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London, EnglandUniv Hosp Leicester NHS Trust, Leicestershire Clin Genet Serv, Leicester, Leics, EnglandLondon North West Univ Healthcare NHS Trust, North West Thames Reg Genet Serv, London, EnglandRoyal Devon & Exeter NHS Fdn Trust, Peninsula Clin Genet Serv, Exeter, Devon, EnglandSheffield Childrens NHS Fdn Trust, North Trent Clin Genet Serv, Sheffield, S Yorkshire, EnglandUniv Hosp Bristol NHS Fdn Trust, South Western Reg Genet Serv, Bristol, Avon, EnglandNottingham Univ Hosp NHS Trust, Nottingham Ctr Med Genet, Nottingham, EnglandNHS Grampian, North Scotland Reg Genet Serv, Aberdeen, ScotlandNewcastle Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, EnglandGuys & St Thomas NHS Fdn Trust, South East Thames Reg Genet Serv, London, EnglandSt James Hosp, Dublin, IrelandLiverpool Womens NHS Fdn Trust, Merseyside & Cheshire Clin Genet Serv, Liverpool, MerseysideBelfast Hlth & Social Care Trust, Northern Ireland Reg Genet Serv, Belfast, Antrim, North IrelandAbertawe Bro Morgannwg Univ Hlth Board, Med Genet Serv Wales, Swansea, W Glam, WalesBirmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Serv, Birmingham, W MidlandsNHS Lothian, South East Scotland Reg Genet Serv, Edinburgh, Midlothian, ScotlandBetsi Cadwaladr Univ Hlth Board, Med Genet Serv Wales, Bodelwyddan, WalesNHS Wales, All Wales Med Genet Serv, Cardiff, WalesUniv Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton, Hants, EnglandNHS Greater Glasgow & Clyde, West Scotland Reg Genet Serv, Glasgow, Lanark, ScotlandOxford Univ Hosp NHS Fdn Trust, Oxford Reg Genet Serv, Oxford, EnglandUniv Cambridge, Natl Inst Hlth Res, Dept Med Genet, Cambridge Biomed Res Ctr, Cambridge, EnglandSt Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England;

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  • 原文格式 PDF
  • 正文语种 英语
  • 中图分类 泌尿科学(泌尿生殖系疾病);
  • 关键词

    BRCA2; Genetic risk; Genomic region; Prospective cohort study; Prostate cancer;

    机译:BRCA2;遗传风险;基因组区;前瞻性队列研究;前列腺癌;
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