E-viri
Recenzirano
Odprti dostop
-
Wilcox, Naomi; Dumont, Martine; González-Neira, Anna; Carvalho, Sara; Joly Beauparlant, Charles; Crotti, Marco; Luccarini, Craig; Soucy, Penny; Dubois, Stéphane; Nuñez-Torres, Rocio; Pita, Guillermo; Gardner, Eugene J; Dennis, Joe; Alonso, M Rosario; Álvarez, Nuria; Baynes, Caroline; Collin-Deschesnes, Annie Claude; Desjardins, Sylvie; Becher, Heiko; Behrens, Sabine; Bolla, Manjeet K; Castelao, Jose E; Chang-Claude, Jenny; Cornelissen, Sten; Dörk, Thilo; Engel, Christoph; Gago-Dominguez, Manuela; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hartman, Mikael; Herráez, Belén; Jung, Audrey; Keeman, Renske; Kiechle, Marion; Li, Jingmei; Loizidou, Maria A; Lush, Michael; Michailidou, Kyriaki; Panayiotidis, Mihalis I; Sim, Xueling; Teo, Soo Hwang; Tyrer, Jonathan P; van der Kolk, Lizet E; Wahlström, Cecilia; Wang, Qin; Perry, John R B; Benitez, Javier; Schmidt, Marjanka K; Schmutzler, Rita K; Pharoah, Paul D P; Droit, Arnaud; Dunning, Alison M; Kvist, Anders; Devilee, Peter; Easton, Douglas F; Simard, Jacques
Nature genetics, 09/2023, Letnik: 55, Številka: 9Journal Article
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10 ): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were also observed for LZTR1, ATR and BARD1 with P < 1 × 10 . Associations between predicted deleterious rare missense or protein-truncating variants and breast cancer were additionally identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.
Avtor
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.