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[家族性前列腺癌与遗传易感性]

[Familial prostate cancer and genetic predisposition].

作者信息

Meissner V H, Jahnen M, Herkommer K

机构信息

Klinik und Poliklinik für Urologie, Universitätsklinikum rechts der Isar, Fakultät für Medizin, Technische Universität München, Ismaninger Str. 22, 81675, München, Deutschland.

出版信息

Urologe A. 2021 May;60(5):567-575. doi: 10.1007/s00120-021-01491-y. Epub 2021 Mar 15.

DOI:10.1007/s00120-021-01491-y
PMID:33721089
Abstract

BACKGROUND

Twenty percent of all prostate cancer patients have a positive family history (at least 1 first-degree relative with prostate cancer) and a part of these patients have a genetic predisposition.

OBJECTIVES

A literature search and analysis of studies investigating incidence, diagnosis, and clinical course of familial compared to sporadic prostate cancer as well as genetic predisposition was performed using PubMed and Embase.

RESULTS

Risk of prostate cancer depends on number, degree of relationship, and age of onset of affected men in the family. The incidence of familial prostate cancer is higher and the age of diagnosis lower compared to sporadic cases. The clinical course of the disease is comparable, but in individuals with a germline mutation, more intensive therapy is needed due to a more aggressive disease.

CONCLUSIONS

Crucial for risk assessment is a detailed family history, including creation of a pedigree with cancer family history if necessary. In high-risk families, genetic counselling and annual prostate-specific antigen (PSA) screening beginning at the age of 40 should be performed. Verification of a germline mutation requires more intensive therapy due to more aggressive disease.

摘要

背景

所有前列腺癌患者中有20%有阳性家族史(至少有1名患前列腺癌的一级亲属),其中部分患者有遗传易感性。

目的

使用PubMed和Embase对研究家族性前列腺癌与散发性前列腺癌的发病率、诊断和临床病程以及遗传易感性的研究进行文献检索和分析。

结果

前列腺癌风险取决于家族中受影响男性的数量、亲属关系程度和发病年龄。与散发性病例相比,家族性前列腺癌的发病率更高,诊断年龄更低。疾病的临床病程相似,但对于有生殖系突变的个体,由于疾病更具侵袭性,需要更积极的治疗。

结论

详细的家族史对风险评估至关重要,必要时包括创建有癌症家族史的家系图。在高危家族中,应从40岁开始进行遗传咨询和每年一次的前列腺特异性抗原(PSA)筛查。由于疾病更具侵袭性,生殖系突变的确诊需要更积极的治疗。

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1
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本文引用的文献

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8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.8q24 遗传变异与综合单体型改变前列腺癌家族发病风险。
Nat Commun. 2020 Mar 23;11(1):1523. doi: 10.1038/s41467-020-15122-1.
2
Impact of a Changing Population Structure and Clustering of Cancer in Prostate Cancer Patients Depending on a First-Degree Family History.基于一级亲属家族史的前列腺癌患者中人口结构变化和癌症聚集对其的影响。
Urol Int. 2020;104(3-4):222-229. doi: 10.1159/000504789. Epub 2019 Dec 20.
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Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
男性 BRCA1 和 BRCA2 基因突变携带者的前列腺癌风险:一项前瞻性队列研究。
Eur Urol. 2020 Jan;77(1):24-35. doi: 10.1016/j.eururo.2019.08.025. Epub 2019 Sep 6.
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Germline and Somatic Mutations in Prostate Cancer for the Clinician.前列腺癌的胚系和体细胞突变:临床医生视角。
J Natl Compr Canc Netw. 2019 May 1;17(5):515-521. doi: 10.6004/jnccn.2019.7307.
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry.8q24 种系变异与欧洲裔男性前列腺癌风险
Nat Commun. 2018 Nov 5;9(1):4616. doi: 10.1038/s41467-018-06863-1.
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Germline BRCA mutation in male carriers-ripe for precision oncology?男性携带者中的胚系 BRCA 突变——精准肿瘤学的成熟时机?
Prostate Cancer Prostatic Dis. 2018 Apr;21(1):48-56. doi: 10.1038/s41391-017-0018-5. Epub 2017 Dec 14.
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Men with family history of prostate cancer have a higher risk of disease recurrence after radical prostatectomy.有前列腺癌家族史的男性在根治性前列腺切除术后疾病复发的风险更高。
World J Urol. 2018 Feb;36(2):177-185. doi: 10.1007/s00345-017-2122-5. Epub 2017 Nov 21.
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ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response.ATM、ATR 和 DNA-PK:DNA 损伤反应中的三位一体。
Mol Cell. 2017 Jun 15;66(6):801-817. doi: 10.1016/j.molcel.2017.05.015.
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Screening for prostate cancer.前列腺癌筛查
Semin Oncol. 2017 Feb;44(1):47-56. doi: 10.1053/j.seminoncol.2017.02.001. Epub 2017 Feb 11.
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Prostate cancer family history and eligibility for active surveillance: a systematic review of the literature.前列腺癌家族史与主动监测的适用性:文献系统综述
BJU Int. 2017 Oct;120(4):464-467. doi: 10.1111/bju.13862. Epub 2017 May 3.