PALB2 mutations and prostate cancer risk and survival

被引：25

作者：

Wokolorczyk, Dominika ^{[1
]}

Kluzniak, Wojciech ^{[1
]}

Stempa, Klaudia ^{[1
]}

Rusak, Bogna ^{[1
]}

Huzarski, Tomasz ^{[1
,2
]}

Gronwald, Jacek ^{[1
]}

Gliniewicz, Katarzyna ^{[1
]}

Kashyap, Aniruddh ^{[1
]}

Morawska, Sylwia ^{[1
]}

Debniak, Tadeusz ^{[1
]}

Jakubowska, Anna ^{[1
,3
]}

Szwiec, Marek ^{[4
]}

Domagala, Pawel ^{[5
]}

Lubinski, Jan ^{[1
]}

Narod, Steven A. ^{[6
,7
]}

Akbari, Mohammad R. ^{[6
,7
]}

Cybulski, Cezary ^{[1
]}

机构：

[1] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, Szczecin, Poland

[2] Univ Zielona Gora, Dept Clin Genet & Pathol, Zielona Gora, Poland

[3] Pomeranian Med Univ, Independent Lab Mol Biol & Genet Diagnost, Szczecin, Poland

[4] Univ Hosp Zielona Gora, Clin Oncol, Zielona Gora, Poland

[5] Pomeranian Med Univ, Dept Pathol, Szczecin, Poland

[6] Univ Toronto, Womens Coll Hosp, Womens Coll Res Inst, Toronto, ON, Canada

[7] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

来源：

BRITISH JOURNAL OF CANCER | 2021年 / 125卷 / 04期

关键词：

DNA-REPAIR GENES; BREAST-CANCER; GERMLINE MUTATIONS; MEN; PREDISPOSE;

D O I：

10.1038/s41416-021-01410-0

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background The objective of this study was to establish the contribution of PALB2 mutations to prostate cancer risk and to estimate survival among PALB2 carriers. Methods We genotyped 5472 unselected men with prostate cancer and 8016 controls for two Polish founder variants of PALB2 (c.509_510delGA and c.172_175delTTGT). In patients with prostate cancer, the survival of carriers of a PALB2 mutation was compared to that of non-carriers. Results A PALB2 mutation was found in 0.29% of cases and 0.21% of controls (odds ratio (OR) = 1.38; 95% confidence interval (CI) 0.70-2.73; p = 0.45). PALB2 mutation carriers were more commonly diagnosed with aggressive cancers of high (8-10) Gleason score than non-carriers (64.3 vs 18.1%, p < 0.0001). The OR for high-grade prostate cancer was 8.05 (95% CI 3.57-18.15, p < 0.0001). After a median follow-up of 102 months, the age-adjusted hazard ratio for all-cause mortality associated with a PALB2 mutation was 2.52 (95% CI 1.40-4.54; p = 0.0023). The actuarial 5-year survival was 42% for PALB2 carriers and was 72% for non-carriers (p = 0.006). Conclusion In Poland, PALB2 mutations predispose to an aggressive and lethal form of prostate cancer.

引用

页码：569 / 575

页数：7

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