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

Autor: Gemo, Francesca Mateo, Mads Thomassen, Cimba, Daniel Jimenez, Julio Castaño, Miquel Angel Pujana, Diana Baralle, Antonis C. Antoniou, Laure Barjhoux, Carmen Herranz, Joan Brunet, Sylvie Mazoyer, Luis Palomero, Núria Bonifaci, Conxi Lázaro, Gorka Ruiz de Garibay, Paolo Radice, Eduardo Eyras, Roderic Espín, Miguel de la Hoya, Antonio Gomez, Angel Raya, Daniel R. Barnes, Nadia García, Ana I. Extremera, Xose S. Puente, Ignacio Fernandez-Garcia, Sangeeta Haydeliz Martinez-Ruiz, Pietro Ameri, Flávia Leme de Calais, Mary Helen Barcellos-Hoff, Amanda B. Spurdle, Francesca Damiola, Lars v. B. Andersen

Publikováno v: Ruiz de Garibay, G, Fernandez-Garcia, I, Mazoyer, S, Leme de Calais, F, Ameri, P, Vijayakumar, S, Martinez-Ruiz, H, Damiola, F, Barjhoux, L, Thomassen, M, Andersen, L V B, Herranz, C, Mateo, F, Palomero, L, Espín, R, Gómez, A, García, N, Jimenez, D, Bonifaci, N, Extremera, A I, Castaño, J, Raya, A, Eyras, E, Puente, X S, Brunet, J, Lázaro, C, Radice, P, Barnes, D R, Antoniou, A C, Spurdle, A B, de la Hoya, M, Baralle, D, Barcellos-Hoff, M H, Pujana, M A, GEMO & CIMBA 2021, ' Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants ', Human Mutation, vol. 42, no. 11, pp. 1488-1502 . https://doi.org/10.1002/humu.24276

Germline pathogenic variants in BRCA1 confer a high risk of developing breast and ovarian cancer. The BRCA1 exon 11 (formally exon 10) is one of the largest exons and codes for the nuclear localization signals of the corresponding gene product. This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ada5d48d4e12a7d4f5f998f5c0f1ac
https://www.repository.cam.ac.uk/handle/1810/327476

Novel splice-switching oligonucleotide promotesBRCA1aberrant splicing and susceptibility to PARP inhibitor action

Autor: Flávia Leme de Calais, Lindsay D. Smith, Massimiliano Mellone, Diana Baralle, Jeremy P. Blaydes, Michela Raponi, Emanuele Buratti

Publikováno v: International Journal of Cancer. 140:1564-1570

Tumors carrying hereditary mutations in BRCA1, which attenuate the BRCA1 DNA damage repair pathway, are more susceptible to dual treatment with PARP inhibitors and DNA damaging therapeutics. Conversely, breast cancer tumors with nonmutated functional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d83c21edbf8b4b1e73d38bd7637ce28a
https://doi.org/10.1002/ijc.30574

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

Autor: Leticia E. Sewaybricker, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Guilherme Guaragna-Filho, Maricilda Palandi de Mello, Reginaldo José Petroli, Carla Cristina Telles de Sousa Castro, Nélio Neves Veiga-Junior, Pedro Augusto Rodrigues Medaets, Flávia Leme de Calais, Gil Guerra-Júnior

Publikováno v: International Journal of Endocrinology
International Journal of Endocrinology, Vol 2012 (2012)

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reduct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde835308ae6f67d15c51e8a5423743e
https://doi.org/10.1155/2012/964876

Espectro clínico e molecular de pacientes com deficiência de 17β-hidroxiesteroide desidrogenase tipo 2 (17-β-HSD3)

Autor: José Roberto Erbolato Gabiatti, Guilherme Guaragna-Filho, Silma Regina Ferreira Pereira, Isabella Lopes Monlleó, Flávia Leme de Calais, Ianik Rafaela Lima Leal, Antonia Paula Marques-de-Faria, Gil Guerra-Júnior, Roberto Benedito de Paiva e Silva, Maricilda Palandi de Mello, Carla Cristina Telles de Sousa Castro, Erisvaldo Ferreira Cavalcante-Junior, Fernanda Borchers Coeli, Andréa Trevas Maciel-Guerra

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 56, Issue: 8, Pages: 533-539, Published: NOV 2012
Arquivos Brasileiros de Endocrinologia & Metabologia v.56 n.8 2012
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9238134a928469e28b958553646b3a7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000800012&lng=en&tlng=en