Cancer Research and Treatment

Original Articles

Inherited NBN Mutations and Prostate Cancer Risk and Survival: Bogna Rusak, Wojciech Kluźniak, Dominika Wokołorczykv, Klaudia Stempa, Aniruddh Kashyap, Jacek Gronwald, Tomasz Huzarski, Tadeusz Dębniak, Anna Jakubowska, Bartłomiej Masojć, Mohammad R. Akbari, Steven A. Narodv, Jan Lubiński, Cezary Cybulski, The Polish Hereditary Prostate Cancer Consortium; Cancer Res Treat. 2019;51(3):1180-1187. Published online December 13, 2018; DOI: https://doi.org/10.4143/crt.2018.532

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Purpose
To establish the contribution of four founder alleles of NBN to prostate cancer risk and cancer survival.
Materials and Methods
Five thousand one hundred eighty-nine men with prostate cancer and 6,152 controls were genotyped for four recurrent variants of NBN (657del5, R215W, I171V, and E185Q).
Results
The NBN 657del5 mutation was detected in 74 of 5,189 unselected cases and in 35 of 6,152 controls (odds ratio [OR], 2.5; p < 0.001). In carriers of 657del5 deletion, the cancer risk was restricted to men with the GG genotype of the E185Q variant of the same gene. Among men with the GG genotype, the OR associated with 657del5 was 4.4 (95% confidence interval [CI], 2.4 to 8.0). Among men with other E185Q genotypes, the OR associated with 657del5 was 1.4 (95% CI, 0.8 to 2.4) and the interaction was significant (homogeneity p=0.006). After a median follow-up of 109 months, mortality was worse for 657del5 mutation carriers than for non-carriers (hazard ratio [HR], 1.6; p=0.001). The adverse effect of 657del5 on survival was only seen on the background of the GG genotype of E185Q (HR, 1.9; p=0.0004).
Conclusion
The NBN 657del5 mutation predisposes to poor prognosis prostate cancer. The pathogenicity of this mutation, with regards to both prostate cancer risk and survival, is modified by a missense variant of the same gene (E185Q).

Citations

Citations to this article as recorded by

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival
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Germline pathogenic variants in the MRE11, RAD50, and NBN (MRN) genes in cancer predisposition: A systematic review and meta‐analysis
Barbora Stastna, Tatana Dolezalova, Katerina Matejkova, Barbora Nemcova, Petra Zemankova, Marketa Janatova, Petra Kleiblova, Jana Soukupova, Zdenek Kleibl
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Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer
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Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland
Dominika Wokołorczyk, Wojciech Kluźniak, Tomasz Huzarski, Jacek Gronwald, Agata Szymiczek, Bogna Rusak, Klaudia Stempa, Katarzyna Gliniewicz, Aniruddh Kashyap, Sylwia Morawska, Tadeusz Dębniak, Anna Jakubowska, Marek Szwiec, Paweł Domagała, Jan Lubiński,
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Allelic modification of breast cancer risk in women with an NBN mutation
Bogna Rusak, Wojciech Kluźniak, Dominika Wokołorczyk, Klaudia Stempa, Aniruddh Kashyap, Helena Rudnicka, Jacek Gronwald, Tomasz Huzarski, Tadeusz Dębniak, Anna Jakubowska, Marek Szwiec, Mohammad R. Akbari, Steven A. Narod, Jan Lubiński, Cezary Cybulski
Breast Cancer Research and Treatment.2019; 178(2): 427. CrossRef

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Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland: Tadeusz Dębniak, Rodney J Scott, Rodney A Lea, Bohdan Górski, Bartłomiej Masojć, Cezary Cybulski, Andrzej Kram, Romuald Maleszka, Tomasz Gromowski, Katarzyna Paszkowska-Szczur, Aniruddh Kashyap, Marcin R. Lener, Karolina Malińska, Emilia Rogoża, Dawid Murawa, Helena Rudnicka, Jakub Deptuła, Jan Lubiński; Cancer Res Treat. 2019;51(1):337-344. Published online May 14, 2018; DOI: https://doi.org/10.4143/crt.2018.157

Abstract PDF PubReader ePub

Purpose
Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing (WES).
Materials and Methods
Herein we performed WES on a cohort of 96 unrelated Polish patients with melanoma diagnosed under the age of 40 years who all screened negative for the presence of CDKN2Avariants. A replication study using a set of 1,200 melanoma patient DNA samples and similarly large series of healthy controls was undertaken.
Results
We selected 21 potentially deleterious variants in 20 genes (VRK1, MYCT1, DNAH14, CASC3, MS4A12, PRC1, WWOX, CARD6, EXO5, CASC3, CASP8AP2, STK33, SAMD11, CNDP2, CPNE1, EFCAB6, CABLES1, LEKR1, NUDT17, and RRP15), which were identified by WES and confirmed by Sanger sequencing for an association study. Evaluation of the allele distribution among carriers and their relatives in available family trios revealed that these variants were unlikely to account for many familial cases of melanoma. Replication study revealed no statistically significant differences between cases and controls.
Conclusion
Although most of the changes seemed to be neutral we could not exclude an association between variants in VRK1, CREB3L3, EXO5, and STK33 with melanoma risk.

Citations

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