Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development

Autor: Luisa Maresca, Samuele Lodovichi, Alessandra Lorenzoni, Tiziana Cervelli, Rossella Monaco, Laura Spugnesi, Mariella Tancredi, Elisabetta Falaschi, Katia Zavaglia, Elisabetta Landucci, Manuela Roncella, Caterina Congregati, Angiolo Gadducci, Antonio Giuseppe Naccarato, Maria Adelaide Caligo, Alvaro Galli

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

In this study, we determined if BRCA1 partners involved in DNA double-strand break (DSB) and mismatch repair (MMR) may contribute to breast and ovarian cancer development. Taking advantage the functional conservation of DNA repair pathways between ye

Externí odkaz: https://doaj.org/article/e639c8c962944410837a5ab480c63c8e

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and unclassified variants

Autor: Maria A. Caligo, Abdellatif Benider, Amal Tazzite, Sellama Nadifi, Elisabetta Falaschi, Hassan Jouhadi, Anita Collavoli, Paolo Aretini

Publikováno v: Gynecologic Oncology. 125:687-692

Objective Breast cancer is the most common female cancer in Morocco. About 5 to 10% are due to hereditary predisposition and mutations in BRCA1 and BRCA2 genes are responsible for an important proportion of high-risk breast/ovarian cancer families. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf620f51fe9dd525c45556c600c3b890
https://doi.org/10.1016/j.ygyno.2012.03.007

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations

Autor: Maria A. Caligo, Gaetana Gambino, Paolo Aretini, Elisabetta Falaschi, Mariella Tancredi

Publikováno v: International Journal of Molecular Medicine

The study of BRCA1 and BRCA2 genes and their alterations has been essential to the understanding of the development of familial breast and ovarian cancers. Many of the variants identified have an unknown pathogenic significance. These include variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77c3c0ed3c288bb46cd8ffb08c3ba5
http://hdl.handle.net/11568/705263

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae

Autor: Elisabetta Falaschi, Anita Collavoli, Cristina Balia, Laura Spugnesi, Maria A. Caligo, Valentina Quercioli, Alvaro Galli

Publikováno v: Mutagenesis. 28(2)

The tumour-suppressor gene BRCA2 has been demonstrated to be involved in maintenance of genome integrity by affecting DNA double-strand break repair and homologous recombination. Protein-truncating mutations in BRCA2 predispose women to early onset b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f21635335b37b081f7c7ec9d6655556
https://pubmed.ncbi.nlm.nih.gov/23328489

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Autor: Guglielmi, Chiara¹ (AUTHOR) chiara.guglielmi.cg@gmail.com, Scarpitta, Rosa² (AUTHOR) rose2312@hotmail.it, Gambino, Gaetana³ (AUTHOR) gaetana.gambino@gmail.com, Conti, Eleonora¹ (AUTHOR) eleonoraconti4@gmail.com, Bellè, Francesca⁴ (AUTHOR) f.belle01@hotmail.com, Tancredi, Mariella¹ (AUTHOR) mariella.tancredi@gmail.com, Cervelli, Tiziana⁴ (AUTHOR) tizicerv@ifc.cnr.it, Falaschi, Elisabetta¹ (AUTHOR) cunegonda_f@yahoo.it, Cosini, Cinzia¹ (AUTHOR) c.cosini@ao-pisa.toscana.it, Aretini, Paolo⁵ (AUTHOR) p.aretini@fpscience.it, Congregati, Caterina⁶ (AUTHOR) c.congregati@ao-pisa.toscana.it, Marino, Marco⁷ (AUTHOR) marcomarino83@gmail.com, Patruno, Margherita⁸ (AUTHOR) m.patruno@oncologico.bari.it, Pilato, Brunella⁸ (AUTHOR) brunellapilato@gmail.com, Spina, Francesca⁹ (AUTHOR) francescaspina@hotmail.com, Balestrino, Luisa⁹ (AUTHOR) luibale@hotmail.com, Tenedini, Elena⁷ (AUTHOR) elena.tenedini@unimore.it, Carnevali, Ileana¹⁰ (AUTHOR) ileana.carnevali@asst-settelaghi.it, Cortesi, Laura¹¹ (AUTHOR) cortesilaura67@gmail.com, Tagliafico, Enrico⁷ (AUTHOR) enrico.tagliafico@unimore.it

Publikováno v: International Journal of Molecular Sciences. Jul2021, Vol. 22 Issue 14, p7693-7693. 1p.