Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer

Autor: Mayana Zatz, Oswaldo Keith Okamoto, Meire Aguena, Guilherme L. Yamamoto, Kátia Maria da Rocha, V.N.V.O. Takahashi, Ana Cristina Victorino Krepischi, Suzana A. M. Ezquina, Monica C. Varela, Gabriel Bandeira, Thomaz Rafael Gollop, Monize Lazar, Maria Rita Passos-Bueno

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

It is estimated that 5–10% of breast cancer cases are hereditary. The identification of pathogenic germline variants allows individualized preventive health care, improvement of clinical management and genetic counseling. Studies in ethnically admi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cedc39cb4b7ee87e32e05b5e53e61a58
https://doi.org/10.1007/s12282-020-01165-1

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Autor: Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam

Publikováno v: PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e06cd71c14234bbd4c39a6af8c3d1ff
http://europepmc.org/articles/PMC5386295

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Autor: David Schlesinger, Lucas A. Cruz, Kátia Maria da Rocha, Camila Fernandes Silva Bassi, Ligia K. Barbara, Luciano Abreu Brito, Diogo Franco, Daniela Franco Bueno, Cibele Masotti, Nivaldo Alonso, Débora Romeo Bertola, Maria Rita Passos-Bueno, Carolina Malcher, Diogo Meyer

Publikováno v: American Journal of Medical Genetics Part A. :2170-2175

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder with a worldwide incidence estimated at 1:700. Among the putative susceptibility loci, the IRF6 gene and a region at 8q24.21 have been corroborated in different popula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a53be86b66f933b340c11123c728263
https://doi.org/10.1002/ajmg.a.35526

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Autor: Kátia Maria da Rocha, Mariza Ribeiro Feniman, Luciana Paula Maximino, Antonio Richieri-Costa, Dionísia Aparecida Cusin Lamônica, Sthella Zanchetta, Dagma Venturini Marques Abramides, Maria Rita Passos-Bueno, Greyce Kelly da Silva

Publikováno v: The Cleft Palate-Craniofacial Journal. 47:548-552

Objective To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Design Clinical evalu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81bea0bb9222c347862a3bc705e2134e
https://doi.org/10.1597/08-251.1

Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features

Autor: Guilherme L. Yamamoto, Monize Lazar Magalhães, C A Kim, Kátia Maria da Rocha, Ellaine Carvalho, Rachel Sayuri Honjo, Michel S Naslavsky, Mayana Zatz, Débora Romeo Bertola, Maria Rita Passos-Bueno

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de82784e440a3f770dd889d4df09b3a