臨床泌尿器科75巻5号

2021年04月発行

特集 前立腺癌のバイオロジーと最新の治療―いま起こりつつあるパラダイムシフト

〈基礎〉

DNA修復遺伝子と前立腺癌―乳癌・卵巣癌とどこが違うのか？

著者： 小坂威雄¹

所属機関： ¹慶應義塾大学医学部泌尿器科学教室

ページ範囲：P.284 - P.290

文献概要

▶ポイント

・乳癌・卵巣癌では，生殖細胞系列変異によるBRCA1遺伝子，およびBRCA2遺伝子が治療の対象となる．

・前立腺癌では，生殖細胞系列変異のみならず体細胞系列変異としてもがんの悪性度に関連し，治療の標的となる．

・コンパニオン診断のタイミング，FoundationOneの遺伝子パネル検査との使用の位置づけ，保険請求のタイミングは癌種によって異なる．

参考文献

1） Giri VN, et al : Implementation of Germline Testing for Prostate Cancer : Philadelphia Prostate Cancer Consensus Conference 2019. J Clin Oncol 38 : 2798-2811, 2020

2） Johns LE, et al : A Systematic Review and Meta-Analysis of Familial Prostate Cancer Risk. BJU Int 91 : 789-794, 2003

3） Warner E, et al : Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in Unselected Ashkenazi Jewish Women with Breast Cancer. J Natl Cancer Inst 91 : 1241-1247, 1999

4） Beebe-Dimmer JL, et al : Risk of Prostate Cancer Associated with Familial and Hereditary Cancer Syndromes. J Clin Oncol 38 : 1807-1813, 2020

5） Dite GS, et al : Increased Cancer Risks for Relatives of Very Early-Onset Breast Cancer Cases with and without BRCA1 and BRCA2 Mutations. Br J Cancer 103 : 1103-1108, 2010

6） Kote-Jarai Z, et al : BRCA2 Is a Moderate Penetrance Gene Contributing to Young-Onset Prostate Cancer : Implications for Genetic Testing in Prostate Cancer Patients. Br J Cancer 105 : 1230-1234, 2011

7） Vazina A, et al : The Rate of the Founder Jewish Mutations in BRCA1 and BRCA2 in Prostate Cancer Patients in Israel. Br J Cancer 83 : 463-466, 2000

8） Castro E, et al : Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. Eur Urol 68 : 186-193, 2015

9） Castro E, et al : Germline BRCA Mutations Are Associated with Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer. J Clin Oncol 31 : 1748-1757, 2013

10） Nyberg T, et al : Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers : A Prospective Cohort Study. Eur Urol 77 : 24-35, 2020

11） Kosaka T, et al : A First Japanese Case of Neuroendocrine Prostate Cancer Accompanied by Lung and Brain Metastasis with Somatic and Germline BRCA2 Mutation. Pathol Int 69 : 715-720, 2019

12） Momozawa Y, et al : Germline Pathogenic Variants in 7636 Japanese Patients with Prostate Cancer and 12 366 Controls. J Natl Cancer Inst 112 : 369-376, 2020

13） Pritchard CC, et al : Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med 375 : 443-453, 2016

14） Momozawa Y, et al : Germline Pathogenic Variants of 11 Breast Cancer Genes in 7,051 Japanese Patients and 11,241 Controls. Nat Commun 9 : 4083, 2018

15） Chen S, et al : Meta-Analysis of BRCA1 and BRCA2 Penetrance. J Clin Oncol 25 : 1329-1333, 2007

16） Nakamura S, et al : Prevalence and Differentiation of Hereditary Breast and Ovarian Cancers in Japan. Breast Cancer 22 : 462-468, 2015

17） Sekine M, et al : Localization of a Novel Susceptibility Gene for Familial Ovarian Cancer to Chromosome 3p22-p25. Hum Mol Genet 10 : 1421-1429, 2001

18） Cancer Genome Atlas Research Network : The Molecular Taxonomy of Primary Prostate Cancer. Cell 163 : 1011-1025, 2015

19） Robinson D, et al : Integrative Clinical Genomics of Advanced Prostate Cancer. Cell 161 : 1215-1228, 2015

20） Abida W, et al : Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making. JCO Precis Oncol, 2017

21） de Bono J, et al : Olaparib for Metastatic Castration-Resistant Prostate Cancer. N Engl J Med 382 : 2091-2102, 2020