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DOI 10.1038/s41525-025-00529-w

Медицинская библиотека · NPJ genomic medicine · 2025

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Barnes Daniel R, Tyrer Jonathan P, Dennis Joe, Leslie Goska, Bolla Manjeet K, Lush Michael, Aeilts Amber M, Aittomäki Kristiina, Andrieu Nadine, Andrulis Irene L, Anton-Culver Hoda, Arason Adalgeir, Arun Banu K, Balmaña Judith, Bandera Elisa V, Barkardottir Rosa B, Berger Lieke P V, Berrington de Gonzalez Amy, Berthet Pascaline, Białkowska Katarzyna, Bjørge Line, Blanco Amie M, Blok Marinus J, Bobolis Kristie A, Bogdanova Natalia V, Brenton James D, Butz Henriett, Buys Saundra S, Caligo Maria A, Campbell Ian, Castillo Carmen, Claes Kathleen B M, Colonna Sarah V, Cook Linda S, Daly Mary B, Dansonka-Mieszkowska Agnieszka, de la Hoya Miguel, deFazio Anna, DePersia Allison, Ding Yuan Chun, Doherty Jennifer A, Domchek Susan M, Dörk Thilo, Einbeigi Zakaria, Engel Christoph, Evans D Gareth, Foretova Lenka, Fortner Renée T, Fostira Florentia, Foti Maria Cristina, Friedman Eitan, Frone Megan N, Ganz Patricia A, Gentry-Maharaj Aleksandra, Glendon Gord, Godwin Andrew K, González-Neira Anna, Greene Mark H, Gronwald Jacek, Guerrieri-Gonzaga Aliana, Hamann Ute, Hansen Thomas V O, Harris Holly R, Hauke Jan, Heitz Florian, Hogervorst Frans B L, Hooning Maartje J, Hopper John L, Huff Chad D, Huntsman David G, Imyanitov Evgeny N, Izatt Louise, Jakubowska Anna, James Paul A, Janavicius Ramunas, John Esther M, Kar Siddhartha, Karlan Beth Y, Kennedy Catherine J, Kiemeney Lambertus A L M, Konstantopoulou Irene, Kupryjanczyk Jolanta, Laitman Yael, Lavie Ofer, Lawrenson Kate, Lester Jenny, Lesueur Fabienne, Lopez-Pleguezuelos Carlos, Mai Phuong L, Manoukian Siranoush, May Taymaa, McNeish Iain A, Menon Usha, Milne Roger L, Modugno Francesmary, Mongiovi Jennifer M, Montagna Marco, Moysich Kirsten B, Neuhausen Susan L, Nielsen Finn C, Noguès Catherine, Oláh Edit, Olopade Olufunmilayo I, Osorio Ana, Papi Laura, Pathak Harsh, Pearce Celeste L, Pedersen Inge S, Peixoto Ana, Pejovic Tanja, Peng Pei-Chen, Peshkin Beth N, Peterlongo Paolo, Powell C Bethan, Prokofyeva Darya, Pujana Miquel Angel, Radice Paolo, Rashid Muhammad U, Rennert Gad, Richenberg George, Sandler Dale P, Sasamoto Naoko, Setiawan Veronica W, Sharma Priyanka, Sieh Weiva, Singer Christian F, Snape Katie, Sokolenko Anna P, Soucy Penny, Southey Melissa C, Stoppa-Lyonnet Dominique, Sutphen Rebecca, Sutter Christian, Tan Yen Y, Teixeira Manuel R, Terry Kathryn L, Thomsen Liv Cecilie V, Tischkowitz Marc, Toland Amanda E, Van Gorp Toon, Vega Ana, Velez Edwards Digna R, Webb Penelope M, Weitzel Jeffrey N, Wentzensen Nicolas, Whittemore Alice S, Winham Stacey J, Wu Anna H, Yadav Siddhartha, Yu Yao, Ziogas Argyrios, Berchuck Andrew, Couch Fergus J, Goode Ellen L, Goodman Marc T, Monteiro Alvaro N, Offit Kenneth, Ramus Susan J, Risch Harvey A, Schildkraut Joellen M, Thomassen Mads, Simard Jacques, Easton Douglas F, Jones Michelle R, Chenevix-Trench Georgia, Gayther Simon A, Antoniou Antonis C, Pharoah Paul D P

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Аннотация

Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) to identify novel HGSOC susceptibility loci. Eight novel variants were associated with HGSOC risk. An interesting discovery biologically was TP53 3'-UTR SNP rs78378222-T's association with HGSOC (per-T-allele relative risk (RR) = 1.44, 95% CI:1.28-1.62, P = 1.76 × 10-9). Polygenic scores (PGS) were developed using OCAC and CIMBA data and trained on FinnGen data. The optimal PGS included 64,518 variants and was associated with an odds ratio of 1.46 (95% CI:1.37-1.54) per standard deviation when validated in the UKBB. This study represents the largest HGSOC GWAS to date - demonstrating that improvements in imputation reference panels and increased sample sizes help to identify HGSOC associated variants that previously went undetected, ultimately improving PGS which can improve personalized HGSOC risk prediction.

Для цитирования: Barnes Daniel R, Tyrer Jonathan P, Dennis Joe, Leslie Goska, Bolla Manjeet K, Lush Michael, Aeilts Amber M, Aittomäki Kristiina, Andrieu Nadine, Andrulis Irene L, Anton-Culver Hoda, Arason Adalgeir, Arun Banu K, Balmaña Judith, Bandera Elisa V, Barkardottir Rosa B, Berger Lieke P V, Berrington de Gonzalez Amy, Berthet Pascaline, Białkowska Katarzyna, Bjørge Line, Blanco Amie M, Blok Marinus J, Bobolis Kristie A, Bogdanova Natalia V, Brenton James D, Butz Henriett, Buys Saundra S, Caligo Maria A, Campbell Ian, Castillo Carmen, Claes Kathleen B M, Colonna Sarah V, Cook Linda S, Daly Mary B, Dansonka-Mieszkowska Agnieszka, de la Hoya Miguel, deFazio Anna, DePersia Allison, Ding Yuan Chun, Doherty Jennifer A, Domchek Susan M, Dörk Thilo, Einbeigi Zakaria, Engel Christoph, Evans D Gareth, Foretova Lenka, Fortner Renée T, Fostira Florentia, Foti Maria Cristina, Friedman Eitan, Frone Megan N, Ganz Patricia A, Gentry-Maharaj Aleksandra, Glendon Gord, Godwin Andrew K, González-Neira Anna, Greene Mark H, Gronwald Jacek, Guerrieri-Gonzaga Aliana, Hamann Ute, Hansen Thomas V O, Harris Holly R, Hauke Jan, Heitz Florian, Hogervorst Frans B L, Hooning Maartje J, Hopper John L, Huff Chad D, Huntsman David G, Imyanitov Evgeny N, Izatt Louise, Jakubowska Anna, James Paul A, Janavicius Ramunas, John Esther M, Kar Siddhartha, Karlan Beth Y, Kennedy Catherine J, Kiemeney Lambertus A L M, Konstantopoulou Irene, Kupryjanczyk Jolanta, Laitman Yael, Lavie Ofer, Lawrenson Kate, Lester Jenny, Lesueur Fabienne, Lopez-Pleguezuelos Carlos, Mai Phuong L, Manoukian Siranoush, May Taymaa, McNeish Iain A, Menon Usha, Milne Roger L, Modugno Francesmary, Mongiovi Jennifer M, Montagna Marco, Moysich Kirsten B, Neuhausen Susan L, Nielsen Finn C, Noguès Catherine, Oláh Edit, Olopade Olufunmilayo I, Osorio Ana, Papi Laura, Pathak Harsh, Pearce Celeste L, Pedersen Inge S, Peixoto Ana, Pejovic Tanja, Peng Pei-Chen, Peshkin Beth N, Peterlongo Paolo, Powell C Bethan, Prokofyeva Darya, Pujana Miquel Angel, Radice Paolo, Rashid Muhammad U, Rennert Gad, Richenberg George, Sandler Dale P, Sasamoto Naoko, Setiawan Veronica W, Sharma Priyanka, Sieh Weiva, Singer Christian F, Snape Katie, Sokolenko Anna P, Soucy Penny, Southey Melissa C, Stoppa-Lyonnet Dominique, Sutphen Rebecca, Sutter Christian, Tan Yen Y, Teixeira Manuel R, Terry Kathryn L, Thomsen Liv Cecilie V, Tischkowitz Marc, Toland Amanda E, Van Gorp Toon, Vega Ana, Velez Edwards Digna R, Webb Penelope M, Weitzel Jeffrey N, Wentzensen Nicolas, Whittemore Alice S, Winham Stacey J, Wu Anna H, Yadav Siddhartha, Yu Yao, Ziogas Argyrios, Berchuck Andrew, Couch Fergus J, Goode Ellen L, Goodman Marc T, Monteiro Alvaro N, Offit Kenneth, Ramus Susan J, Risch Harvey A, Schildkraut Joellen M, Thomassen Mads, Simard Jacques, Easton Douglas F, Jones Michelle R, Chenevix-Trench Georgia, Gayther Simon A, Antoniou Antonis C, Pharoah Paul D P. Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.. NPJ genomic medicine. 2025. DOI: 10.1038/s41525-025-00529-w.
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