Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry

Kurzanzeige
dc.contributor.authorGheybi, Kazzem
dc.contributor.authorSoh, Pamela X. Y.
dc.contributor.authorJiang, Jue
dc.contributor.authorMbeki, Tumisang M. N.
dc.contributor.authorLouw, Melanie
dc.contributor.authorBurns, Daniel
dc.contributor.authorMundra, Piyushkumar
dc.contributor.authorKiriy, Daria
dc.contributor.authorHasan, Md. Mehedi
dc.contributor.authorJaratlerdsiri, Weerachai
dc.contributor.authorLebelo, Maphuti Tebogo
dc.contributor.authorCampbell, Raymond A.
dc.contributor.authorRadzuma, Mulalo B.
dc.contributor.authorNenzhelele, Mukudeni
dc.contributor.authorObida, Muvhulawa
dc.contributor.authorObida, Martin
dc.contributor.authorOmbuki, Winstar M.
dc.contributor.authorOyaro, Micah O.
dc.contributor.authorPatrick, Sean M.
dc.contributor.authorLoda, Massimo
dc.contributor.authorWedge, David C.
dc.contributor.authorBristow, Robert G.
dc.contributor.authorBrewer, Daniel S.
dc.contributor.authorCooper, Colin S.
dc.contributor.authorReimand, Jüri
dc.contributor.authorCancel-Tassin, Geraldine
dc.contributor.authorCussenot, Olivier
dc.contributor.authorHovens, Chris M.
dc.contributor.authorCocoran, Niall M.
dc.contributor.authorStricker, Phillip D.
dc.contributor.authorSchlomm, Thorsten
dc.contributor.authorPrins, Gail S.
dc.contributor.authorSørensen, Karina Dalsgaard
dc.contributor.authorBova, G. Steven S.
dc.contributor.authorBrook, Mark N.
dc.contributor.authorBrors, Benedict
dc.contributor.authorButler, Adam
dc.contributor.authorCheng, Kevin C. L.
dc.contributor.authorCorcoran, Niall M.
dc.contributor.authorFavero, Francesco
dc.contributor.authorGerhauser, Clarissa
dc.contributor.authorGihawi, Abraham
dc.contributor.authorGirma, Etsehiwot G.
dc.contributor.authorGnanapragasam, Vincent J.
dc.contributor.authorGruber, Andreas J.
dc.contributor.authorHamid, Anis
dc.contributor.authorHayes, Vanessa M.
dc.contributor.authorHe, Housheng Hansen
dc.contributor.authorImada, Eddie Luidy
dc.contributor.authorJakobsdottir, G. Maria
dc.contributor.authorJaratlersiri, Weerachai
dc.contributor.authorJiang, Jue
dc.contributor.authorJung, Chol-Hee
dc.contributor.authorKhani, Francesca
dc.contributor.authorLamy, Philippe
dc.contributor.authorLeeman, Gregory
dc.contributor.authorLutsik, Pavlo
dc.contributor.authorMarchionni, Luigi
dc.contributor.authorMolania, Ramyar
dc.contributor.authorPapenfuss, Anthony T.
dc.contributor.authorPellegrina, Diogo
dc.contributor.authorPope, Bernard
dc.contributor.authorQueiroz, Lucio R.
dc.contributor.authorRausch, Tobias
dc.contributor.authorReimand, Jüri
dc.contributor.authorRobinson, Brain
dc.contributor.authorSahli, Atef
dc.contributor.authorSoh, Pamela X. Y.
dc.contributor.authorUhrig, Sebastian
dc.contributor.authorXu, Yaobo
dc.contributor.authorYamaguchi, Takafumi N.
dc.contributor.authorZanettini, Claudio
dc.contributor.authorBornman, M. S. Riana
dc.contributor.authorNgugi, Peter Mungai
dc.contributor.authorOmbuki, Winstar M.
dc.contributor.authorPatrick, Sean M.
dc.contributor.authorMoreira, Daniel M.
dc.contributor.authorMadueke, Ikenna C.
dc.contributor.authorArgos, Maria
dc.contributor.authorBarnhoorn, Irene E. J.
dc.contributor.authorBirch, Lynn
dc.contributor.authorCraddock, Jenna
dc.contributor.authorFanelli, G. Nicolo’
dc.contributor.authorJensby, Eva Ferlev
dc.contributor.authorFörtsch, Hagen E. A.
dc.contributor.authorGamxamub, Jessie
dc.contributor.authorGheybi, Kazzem
dc.contributor.authorGihawi, Abraham
dc.contributor.authorGong, Tingting
dc.contributor.authorHasan, Md. Mehedi
dc.contributor.authorHolmes, Vivien
dc.contributor.authorHuang, Ruotian
dc.contributor.authorKote-Jarai, Zsofia
dc.contributor.authorLebelo, Maphuti Tebogo
dc.contributor.authorLutsik, Pavlo
dc.contributor.authorMaendo, Umuna
dc.contributor.authorMbeki, Tumisang M. N.
dc.contributor.authorMenoe, Reginald
dc.contributor.authorNyaga, Muriuki Elias
dc.contributor.authorOyieko, Willis
dc.contributor.authorShirinde, Joyce
dc.contributor.authorStellmacher, Golda
dc.contributor.authorTapinos, Avraam
dc.contributor.authorUthayopas, Korawich
dc.contributor.authorWalker, Douglas I.
dc.contributor.authorWalong, Edwin O. O.
dc.contributor.authorWanjiku, Githui Sheila
dc.contributor.authorYienya, Allan
dc.contributor.authorZhou, Kangping
dc.contributor.authorWeischenfeldt, Joachim
dc.contributor.authorMutambirwa, Shingai B. A.
dc.contributor.authorNgugi, Peter M.
dc.contributor.authorThomas, David M.
dc.contributor.authorKote-Jarai, Zsofia
dc.contributor.authorEeles, Rosalind A.
dc.contributor.authorBornman, M. S. Riana
dc.contributor.authorHayes, Vanessa M.
dc.date.accessioned2026-02-12T12:38:49Z
dc.date.available2026-02-12T12:38:49Z
dc.date.issued2025-10-02
dc.description.abstractProstate cancer (PCa) germline testing, while gaining momentum, is ancestry restrictive and African exclusive. Through whole genome sequencing for 217 African ancestral cases (186 southern African, 31 Pan representative), we identify 172 potentially pathogenic variants in 78 DNA damage repair or PCa related genes. Prevalence for reported (13/217, 5.99%) and cumulative predicted (24/217, 11.06%) variants of significance (11 genes) falls below that reported for non-Africans. Conversely, BRCA1 , HOXB13, CDK12, MLH1, MSH2 , and BRIP1 remain unimpacted. Through pathogenic ranking based on variant frequency and functionality, clinical presentation and tumour-matched biallelic inactivation, top-ranked candidates include PREX2, POLE, FAT1, BRCA2, POLQ, LRP1B and ATM . Besides notable impact of DNA polymerases, including POLG , Fanconi anaemia genes include FANCD2 , FANCA, FANCG, ERCC4, FANCE and FANCI , while DNA mismatch repair genes MSH3 and PMS1 outranked known namesakes MSH6 and PMS2 . This study provides insights into the spectrum of African-relevant potentially pathogenic PCa variants, highlighting much-needed gene candidates for ancestry-inclusive germline testing.
dc.description.versionpublisheddeu
dc.identifier.doi10.1038/s41467-025-63865-6
dc.identifier.ppn1960918036
dc.identifier.urihttps://kops.uni-konstanz.de/handle/123456789/76181
dc.language.isoeng
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.ddc570
dc.titlePathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestryeng
dc.typeJOURNAL_ARTICLE
dspace.entity.typePublication
kops.citation.bibtex
@article{Gheybi2025-10-02Patho-76181,
  title={Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry},
  year={2025},
  doi={10.1038/s41467-025-63865-6},
  number={1},
  volume={16},
  journal={Nature Communications},
  author={Gheybi, Kazzem and Soh, Pamela X. Y. and Jiang, Jue and Mbeki, Tumisang M. N. and Louw, Melanie and Burns, Daniel and Mundra, Piyushkumar and Kiriy, Daria and Hasan, Md. Mehedi and Jaratlerdsiri, Weerachai and Lebelo, Maphuti Tebogo and Campbell, Raymond A. and Radzuma, Mulalo B. and Nenzhelele, Mukudeni and Obida, Muvhulawa and Obida, Martin and Ombuki, Winstar M. and Oyaro, Micah O. and Patrick, Sean M. and Loda, Massimo and Wedge, David C. and Bristow, Robert G. and Brewer, Daniel S. and Cooper, Colin S. and Reimand, Jüri and Cancel-Tassin, Geraldine and Cussenot, Olivier and Hovens, Chris M. and Cocoran, Niall M. and Stricker, Phillip D. and Schlomm, Thorsten and Prins, Gail S. and Sørensen, Karina Dalsgaard and Bova, G. Steven S. and Brook, Mark N. and Brors, Benedict and Butler, Adam and Cheng, Kevin C. L. and Corcoran, Niall M. and Favero, Francesco and Gerhauser, Clarissa and Gihawi, Abraham and Girma, Etsehiwot G. and Gnanapragasam, Vincent J. and Gruber, Andreas J. and Hamid, Anis and Hayes, Vanessa M. and He, Housheng Hansen and Imada, Eddie Luidy and Jakobsdottir, G. Maria and Jaratlersiri, Weerachai and Jiang, Jue and Jung, Chol-Hee and Khani, Francesca and Lamy, Philippe and Leeman, Gregory and Lutsik, Pavlo and Marchionni, Luigi and Molania, Ramyar and Papenfuss, Anthony T. and Pellegrina, Diogo and Pope, Bernard and Queiroz, Lucio R. and Rausch, Tobias and Reimand, Jüri and Robinson, Brain and Sahli, Atef and Soh, Pamela X. Y. and Uhrig, Sebastian and Xu, Yaobo and Yamaguchi, Takafumi N. and Zanettini, Claudio and Bornman, M. S. Riana and Ngugi, Peter Mungai and Ombuki, Winstar M. and Patrick, Sean M. and Moreira, Daniel M. and Madueke, Ikenna C. and Argos, Maria and Barnhoorn, Irene E. J. and Birch, Lynn and Craddock, Jenna and Fanelli, G. Nicolo’ and Jensby, Eva Ferlev and Förtsch, Hagen E. A. and Gamxamub, Jessie and Gheybi, Kazzem and Gihawi, Abraham and Gong, Tingting and Hasan, Md. Mehedi and Holmes, Vivien and Huang, Ruotian and Kote-Jarai, Zsofia and Lebelo, Maphuti Tebogo and Lutsik, Pavlo and Maendo, Umuna and Mbeki, Tumisang M. N. and Menoe, Reginald and Nyaga, Muriuki Elias and Oyieko, Willis and Shirinde, Joyce and Stellmacher, Golda and Tapinos, Avraam and Uthayopas, Korawich and Walker, Douglas I. and Walong, Edwin O. O. and Wanjiku, Githui Sheila and Yienya, Allan and Zhou, Kangping and Weischenfeldt, Joachim and Mutambirwa, Shingai B. A. and Ngugi, Peter M. and Thomas, David M. and Kote-Jarai, Zsofia and Eeles, Rosalind A. and Bornman, M. S. Riana and Hayes, Vanessa M.},
  note={Article Number: 8799}
}
kops.citation.iso690GHEYBI, Kazzem, Pamela X. Y. SOH, Jue JIANG, Tumisang M. N. MBEKI, Melanie LOUW, Daniel BURNS, Piyushkumar MUNDRA, Daria KIRIY, Md. Mehedi HASAN, Weerachai JARATLERDSIRI, Maphuti Tebogo LEBELO, Raymond A. CAMPBELL, Mulalo B. RADZUMA, Mukudeni NENZHELELE, Muvhulawa OBIDA, Martin OBIDA, Winstar M. OMBUKI, Micah O. OYARO, Sean M. PATRICK, Massimo LODA, David C. WEDGE, Robert G. BRISTOW, Daniel S. BREWER, Colin S. COOPER, Jüri REIMAND, Geraldine CANCEL-TASSIN, Olivier CUSSENOT, Chris M. HOVENS, Niall M. COCORAN, Phillip D. STRICKER, Thorsten SCHLOMM, Gail S. PRINS, Karina Dalsgaard SØRENSEN, G. Steven S. BOVA, Mark N. BROOK, Benedict BRORS, Adam BUTLER, Kevin C. L. CHENG, Niall M. CORCORAN, Francesco FAVERO, Clarissa GERHAUSER, Abraham GIHAWI, Etsehiwot G. GIRMA, Vincent J. GNANAPRAGASAM, Andreas J. GRUBER, Anis HAMID, Vanessa M. HAYES, Housheng Hansen HE, Eddie Luidy IMADA, G. Maria JAKOBSDOTTIR, Weerachai JARATLERSIRI, Jue JIANG, Chol-Hee JUNG, Francesca KHANI, Philippe LAMY, Gregory LEEMAN, Pavlo LUTSIK, Luigi MARCHIONNI, Ramyar MOLANIA, Anthony T. PAPENFUSS, Diogo PELLEGRINA, Bernard POPE, Lucio R. QUEIROZ, Tobias RAUSCH, Jüri REIMAND, Brain ROBINSON, Atef SAHLI, Pamela X. Y. SOH, Sebastian UHRIG, Yaobo XU, Takafumi N. YAMAGUCHI, Claudio ZANETTINI, M. S. Riana BORNMAN, Peter Mungai NGUGI, Winstar M. OMBUKI, Sean M. PATRICK, Daniel M. MOREIRA, Ikenna C. MADUEKE, Maria ARGOS, Irene E. J. BARNHOORN, Lynn BIRCH, Jenna CRADDOCK, G. Nicolo’ FANELLI, Eva Ferlev JENSBY, Hagen E. A. FÖRTSCH, Jessie GAMXAMUB, Kazzem GHEYBI, Abraham GIHAWI, Tingting GONG, Md. Mehedi HASAN, Vivien HOLMES, Ruotian HUANG, Zsofia KOTE-JARAI, Maphuti Tebogo LEBELO, Pavlo LUTSIK, Umuna MAENDO, Tumisang M. N. MBEKI, Reginald MENOE, Muriuki Elias NYAGA, Willis OYIEKO, Joyce SHIRINDE, Golda STELLMACHER, Avraam TAPINOS, Korawich UTHAYOPAS, Douglas I. WALKER, Edwin O. O. WALONG, Githui Sheila WANJIKU, Allan YIENYA, Kangping ZHOU, Joachim WEISCHENFELDT, Shingai B. A. MUTAMBIRWA, Peter M. NGUGI, David M. THOMAS, Zsofia KOTE-JARAI, Rosalind A. EELES, M. S. Riana BORNMAN, Vanessa M. HAYES, 2025. Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry. In: Nature Communications. Springer. 2025, 16(1), 8799. eISSN 2041-1723. Verfügbar unter: doi: 10.1038/s41467-025-63865-6deu
kops.citation.iso690GHEYBI, Kazzem, Pamela X. Y. SOH, Jue JIANG, Tumisang M. N. MBEKI, Melanie LOUW, Daniel BURNS, Piyushkumar MUNDRA, Daria KIRIY, Md. Mehedi HASAN, Weerachai JARATLERDSIRI, Maphuti Tebogo LEBELO, Raymond A. CAMPBELL, Mulalo B. RADZUMA, Mukudeni NENZHELELE, Muvhulawa OBIDA, Martin OBIDA, Winstar M. OMBUKI, Micah O. OYARO, Sean M. PATRICK, Massimo LODA, David C. WEDGE, Robert G. BRISTOW, Daniel S. BREWER, Colin S. COOPER, Jüri REIMAND, Geraldine CANCEL-TASSIN, Olivier CUSSENOT, Chris M. HOVENS, Niall M. COCORAN, Phillip D. STRICKER, Thorsten SCHLOMM, Gail S. PRINS, Karina Dalsgaard SØRENSEN, G. Steven S. BOVA, Mark N. BROOK, Benedict BRORS, Adam BUTLER, Kevin C. L. CHENG, Niall M. CORCORAN, Francesco FAVERO, Clarissa GERHAUSER, Abraham GIHAWI, Etsehiwot G. GIRMA, Vincent J. GNANAPRAGASAM, Andreas J. GRUBER, Anis HAMID, Vanessa M. HAYES, Housheng Hansen HE, Eddie Luidy IMADA, G. Maria JAKOBSDOTTIR, Weerachai JARATLERSIRI, Jue JIANG, Chol-Hee JUNG, Francesca KHANI, Philippe LAMY, Gregory LEEMAN, Pavlo LUTSIK, Luigi MARCHIONNI, Ramyar MOLANIA, Anthony T. PAPENFUSS, Diogo PELLEGRINA, Bernard POPE, Lucio R. QUEIROZ, Tobias RAUSCH, Jüri REIMAND, Brain ROBINSON, Atef SAHLI, Pamela X. Y. SOH, Sebastian UHRIG, Yaobo XU, Takafumi N. YAMAGUCHI, Claudio ZANETTINI, M. S. Riana BORNMAN, Peter Mungai NGUGI, Winstar M. OMBUKI, Sean M. PATRICK, Daniel M. MOREIRA, Ikenna C. MADUEKE, Maria ARGOS, Irene E. J. BARNHOORN, Lynn BIRCH, Jenna CRADDOCK, G. Nicolo’ FANELLI, Eva Ferlev JENSBY, Hagen E. A. FÖRTSCH, Jessie GAMXAMUB, Kazzem GHEYBI, Abraham GIHAWI, Tingting GONG, Md. Mehedi HASAN, Vivien HOLMES, Ruotian HUANG, Zsofia KOTE-JARAI, Maphuti Tebogo LEBELO, Pavlo LUTSIK, Umuna MAENDO, Tumisang M. N. MBEKI, Reginald MENOE, Muriuki Elias NYAGA, Willis OYIEKO, Joyce SHIRINDE, Golda STELLMACHER, Avraam TAPINOS, Korawich UTHAYOPAS, Douglas I. WALKER, Edwin O. O. WALONG, Githui Sheila WANJIKU, Allan YIENYA, Kangping ZHOU, Joachim WEISCHENFELDT, Shingai B. A. MUTAMBIRWA, Peter M. NGUGI, David M. THOMAS, Zsofia KOTE-JARAI, Rosalind A. EELES, M. S. Riana BORNMAN, Vanessa M. HAYES, 2025. Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry. In: Nature Communications. Springer. 2025, 16(1), 8799. eISSN 2041-1723. Available under: doi: 10.1038/s41467-025-63865-6eng
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kops.sourcefieldNature Communications. Springer. 2025, <b>16</b>(1), 8799. eISSN 2041-1723. Verfügbar unter: doi: 10.1038/s41467-025-63865-6deu
kops.sourcefield.plainNature Communications. Springer. 2025, 16(1), 8799. eISSN 2041-1723. Verfügbar unter: doi: 10.1038/s41467-025-63865-6deu
kops.sourcefield.plainNature Communications. Springer. 2025, 16(1), 8799. eISSN 2041-1723. Available under: doi: 10.1038/s41467-025-63865-6eng
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