Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Accepted/In Press date: 19 August 2021

e-pub ahead of print date: 22 August 2021

Published date: 1 November 2021

Additional Information: Funding Information: The study of the wild‐type allele was first proposed and led by Dr. Olga Sinilnikova in CIMBA. We dedicate this study to her memory. The paper is also dedicated to Dr. David L. Kleinberg, who contributed to the study of the BRCA1 mouse model. The authors acknowledge Dr. Weifeng Ruan for his contributions to early studies related to this project, the Experimental Pathology Core Laboratory at NYU School of Medicine for tissue sectioning and staining, the VA Medical Center Animal Facility, and Ms. Clara Montesino for help with the animal experiments. The results are partly based upon data generated by the TCGA Research Network ( https://www.cancer.gov/tcga ), and we express our gratitude to the TCGA consortium and coordinators for producing the data and clinical information used in our study. The ICO‐IDIBELL research was supported by the Generalitat de Catalunya (SGR 2017‐449, 2017‐899 and 2017‐1282; PERIS MedPerCan and PFI‐Salut SLT017‐20‐000076; URDCat; and CERCA programme for IDIBELL institutional support), Carlos III Institute of Health (ISCIII), funded by FEDER funds—a way to build Europe—(Ministry of Science, Innovation, and Universities; grants PI16/00563, PI18/01029, PI19/00553, and PI21/01306; CIBERONC and CIBER‐BBN) and Ministry of Economy and Competitiveness‐MINECO (grants RTI2018‐095377‐B‐100 and RD16/0011/0024). G.R.G. was supported by an IDIBELL post‐residency fellowship. The work at NYU was supported by DOD Breast Cancer Research Program funding to D.L.K. (W81XWH‐11‐1‐0779) and M.H.B.‐H. (W81XWH‐11‐1‐780), and a Novartis Investigator‐Initiated Grant to D.L.K. (CSOM230BUS03). The Baralle laboratory is supported by D.B.'s NIHR Research Professorship (RP‐2016‐07‐011). A.B.S. is supported by an NHMRC Investigator Fellowship (APP: 1177524) and P.R. is supported by funds from the Italian Association for Cancer Research (AIRC; IG number 22093). BRCA1 Funding Information: The study of the BRCA1 wild-type allele was first proposed and led by Dr. Olga Sinilnikova in CIMBA. We dedicate this study to her memory. The paper is also dedicated to Dr. David L. Kleinberg, who contributed to the study of the BRCA1 mouse model. The authors acknowledge Dr. Weifeng Ruan for his contributions to early studies related to this project, the Experimental Pathology Core Laboratory at NYU School of Medicine for tissue sectioning and staining, the VA Medical Center Animal Facility, and Ms. Clara Montesino for help with the animal experiments. The results are partly based upon data generated by the TCGA Research Network (https://www.cancer.gov/tcga), and we express our gratitude to the TCGA consortium and coordinators for producing the data and clinical information used in our study. The ICO-IDIBELL research was supported by the Generalitat de Catalunya (SGR 2017-449, 2017-899 and 2017-1282; PERIS MedPerCan and PFI-Salut SLT017-20-000076; URDCat; and CERCA programme for IDIBELL institutional support), Carlos III Institute of Health (ISCIII), funded by FEDER funds?a way to build Europe?(Ministry of Science, Innovation, and Universities; grants PI16/00563, PI18/01029, PI19/00553, and PI21/01306; CIBERONC and CIBER-BBN) and Ministry of Economy and Competitiveness-MINECO (grants RTI2018-095377-B-100 and RD16/0011/0024). G.R.G. was supported by an IDIBELL post-residency fellowship. The work at NYU was supported by DOD Breast Cancer Research Program funding to D.L.K. (W81XWH-11-1-0779) and M.H.B.-H. (W81XWH-11-1-780), and a Novartis Investigator-Initiated Grant to D.L.K. (CSOM230BUS03). The Baralle laboratory is supported by D.B.'s NIHR Research Professorship (RP-2016-07-011). A.B.S. is supported by an NHMRC Investigator Fellowship (APP: 1177524) and P.R. is supported by funds from the Italian Association for Cancer Research (AIRC; IG number 22093). Funding Information: M.A.P. was the recipient of an unrestricted research grant from Roche Pharma for the development of the ProCURE ICO research program. X.S.P. is a cofounder of and has an ownership interest (including stock and patents) in DREAMgenics. Publisher Copyright: © 2021 Wiley Periodicals LLC

Keywords: BRCA1, breast cancer, isoform, risk, splicing, variant

Local EPrints ID: 451037

URI: http://eprints.soton.ac.uk/id/eprint/451037

DOI: doi:10.1002/humu.24276

ISSN: 1059-7794

PURE UUID: bb3cd985-ba17-4074-a8a7-6b52e0130307

ORCID for Diana Baralle: orcid.org/0000-0003-3217-4833

Date deposited: 03 Sep 2021 16:33

Last modified: 17 Mar 2024 06:47