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Runs of homozygosity and testicular cancer risk

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Harvard

UK Testicular Cancer Collaboration, PRACTICAL consortium (Børge Nordestgaard) & Nordestgaard, BG 2019, 'Runs of homozygosity and testicular cancer risk' Andrology, bind 7, nr. 4, s. 555-564. https://doi.org/10.1111/andr.12667

APA

UK Testicular Cancer Collaboration, PRACTICAL consortium (Børge Nordestgaard), & Nordestgaard, B. G. (2019). Runs of homozygosity and testicular cancer risk. Andrology, 7(4), 555-564. https://doi.org/10.1111/andr.12667

CBE

UK Testicular Cancer Collaboration, PRACTICAL consortium (Børge Nordestgaard), Nordestgaard BG. 2019. Runs of homozygosity and testicular cancer risk. Andrology. 7(4):555-564. https://doi.org/10.1111/andr.12667

MLA

UK Testicular Cancer Collaboration, PRACTICAL consortium (Børge Nordestgaard) og Børge G. Nordestgaard. "Runs of homozygosity and testicular cancer risk". Andrology. 2019, 7(4). 555-564. https://doi.org/10.1111/andr.12667

Vancouver

UK Testicular Cancer Collaboration, PRACTICAL consortium (Børge Nordestgaard), Nordestgaard BG. Runs of homozygosity and testicular cancer risk. Andrology. 2019 jul;7(4):555-564. https://doi.org/10.1111/andr.12667

Author

UK Testicular Cancer Collaboration ; PRACTICAL consortium (Børge Nordestgaard) ; Nordestgaard, Børge G. / Runs of homozygosity and testicular cancer risk. I: Andrology. 2019 ; Bind 7, Nr. 4. s. 555-564.

Bibtex

@article{97fd68d91c3640d6a2c040d87abc394f,
title = "Runs of homozygosity and testicular cancer risk",
abstract = "BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50{\%} of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but to date none have been reported. Runs of homozygosity (RoH) are a signature indicating underlying recessively acting alleles and have been associated with increased risk of other cancer types.OBJECTIVE: To examine whether RoH are associated with TGCT risk.METHODS: We performed a genome-wide RoH analysis using GWAS data from 3206 TGCT cases and 7422 controls uniformly genotyped using the OncoArray platform.RESULTS: Global measures of homozygosity were not significantly different between cases and controls, and the frequency of individual consensus RoH was not significantly different between cases and controls, after correction for multiple testing. RoH at three regions, 11p13-11p14.3, 5q14.1-5q22.3 and 13q14.11-13q.14.13, were, however, nominally statistically significant at p < 0.01. Intriguingly, RoH200 at 11p13-11p14.3 encompasses Wilms tumour 1 (WT1), a recognized cancer susceptibility gene with roles in sex determination and developmental transcriptional regulation, processes repeatedly implicated in TGCT aetiology.DISCUSSION AND CONCLUSION: Overall, our data do not support a major role in the risk of TGCT for recessively acting alleles acting through homozygosity, as measured by RoH in outbred populations of cases and controls.",
author = "C Loveday and A Sud and K Litchfield and M Levy and A Holroyd and P Broderick and Z Kote-Jarai and Dunning, {A M} and K Muir and J Peto and R Eeles and Easton, {D F} and D Dudakia and N Orr and N Pashayan and A Reid and Huddart, {R A} and Houlston, {R S} and C Turnbull and {UK Testicular Cancer Collaboration} and {PRACTICAL consortium (B{\o}rge Nordestgaard)} and Nordestgaard, {B{\o}rge G.}",
note = "{\circledC} 2019 American Society of Andrology and European Academy of Andrology.",
year = "2019",
month = "7",
doi = "10.1111/andr.12667",
language = "English",
volume = "7",
pages = "555--564",
journal = "Andrology",
issn = "2047-2919",
publisher = "Wiley",
number = "4",

}

RIS

TY - JOUR

T1 - Runs of homozygosity and testicular cancer risk

AU - Loveday, C

AU - Sud, A

AU - Litchfield, K

AU - Levy, M

AU - Holroyd, A

AU - Broderick, P

AU - Kote-Jarai, Z

AU - Dunning, A M

AU - Muir, K

AU - Peto, J

AU - Eeles, R

AU - Easton, D F

AU - Dudakia, D

AU - Orr, N

AU - Pashayan, N

AU - Reid, A

AU - Huddart, R A

AU - Houlston, R S

AU - Turnbull, C

AU - UK Testicular Cancer Collaboration

AU - PRACTICAL consortium (Børge Nordestgaard)

A2 - Nordestgaard, Børge G.

N1 - © 2019 American Society of Andrology and European Academy of Andrology.

PY - 2019/7

Y1 - 2019/7

N2 - BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but to date none have been reported. Runs of homozygosity (RoH) are a signature indicating underlying recessively acting alleles and have been associated with increased risk of other cancer types.OBJECTIVE: To examine whether RoH are associated with TGCT risk.METHODS: We performed a genome-wide RoH analysis using GWAS data from 3206 TGCT cases and 7422 controls uniformly genotyped using the OncoArray platform.RESULTS: Global measures of homozygosity were not significantly different between cases and controls, and the frequency of individual consensus RoH was not significantly different between cases and controls, after correction for multiple testing. RoH at three regions, 11p13-11p14.3, 5q14.1-5q22.3 and 13q14.11-13q.14.13, were, however, nominally statistically significant at p < 0.01. Intriguingly, RoH200 at 11p13-11p14.3 encompasses Wilms tumour 1 (WT1), a recognized cancer susceptibility gene with roles in sex determination and developmental transcriptional regulation, processes repeatedly implicated in TGCT aetiology.DISCUSSION AND CONCLUSION: Overall, our data do not support a major role in the risk of TGCT for recessively acting alleles acting through homozygosity, as measured by RoH in outbred populations of cases and controls.

AB - BACKGROUND: Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has long alluded to recessively acting TGCT genetic susceptibility factors, but to date none have been reported. Runs of homozygosity (RoH) are a signature indicating underlying recessively acting alleles and have been associated with increased risk of other cancer types.OBJECTIVE: To examine whether RoH are associated with TGCT risk.METHODS: We performed a genome-wide RoH analysis using GWAS data from 3206 TGCT cases and 7422 controls uniformly genotyped using the OncoArray platform.RESULTS: Global measures of homozygosity were not significantly different between cases and controls, and the frequency of individual consensus RoH was not significantly different between cases and controls, after correction for multiple testing. RoH at three regions, 11p13-11p14.3, 5q14.1-5q22.3 and 13q14.11-13q.14.13, were, however, nominally statistically significant at p < 0.01. Intriguingly, RoH200 at 11p13-11p14.3 encompasses Wilms tumour 1 (WT1), a recognized cancer susceptibility gene with roles in sex determination and developmental transcriptional regulation, processes repeatedly implicated in TGCT aetiology.DISCUSSION AND CONCLUSION: Overall, our data do not support a major role in the risk of TGCT for recessively acting alleles acting through homozygosity, as measured by RoH in outbred populations of cases and controls.

U2 - 10.1111/andr.12667

DO - 10.1111/andr.12667

M3 - Journal article

VL - 7

SP - 555

EP - 564

JO - Andrology

JF - Andrology

SN - 2047-2919

IS - 4

ER -

ID: 59309672