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

Autor: Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Mariella Tancredi, Tiziana Cervelli, Elisabetta Falaschi, Cinzia Cosini, Paolo Aretini, Caterina Congregati, Marco Marino, Margherita Patruno, Brunella Pilato, Francesca Spina, Luisa Balestrino, Elena Tenedini, Ileana Carnevali, Laura Cortesi, Enrico Tagliafico, Maria Grazia Tibiletti, Stefania Tommasi, Matteo Ghilli, Caterina Vivanet, Alvaro Galli, Maria Adelaide Caligo

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 14, p 7693 (2021)

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes.

Externí odkaz: https://doaj.org/article/9e6ce5c7db714a2a9e91523ce492ea6c

A 17q duplication prenatally detected

Autor: Rossella Bruno, Angelo Valetto, Veronica Bertini, Cinzia Cosini, Benedetta Toschi, Caterina Congregati, Simona Rossi, Paolo Simi

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 54, Iss 3, Pp 326-329 (2015)

Externí odkaz: https://doaj.org/article/98bd40cb813d49fcbb8776d38d6cc5ec

Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development

Autor: Veronica Bertini, Fulvia Baldinotti, Nina Tyutyusheva, Camillo Rosano, Cinzia Cosini, Adelaide Maria Caligo, Diego Peroni, Angelo Valetto, Silvano Bertelloni

Background. 46,XX disorders of sex development are rare. Approximately, 90% of XX males are SRY-positive, while testicular development in the absence of SRY takes place in a minority. Methods: A boy with 46,XX karyotype (SRY-negative; absence of SOX9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03181e099d44c0d3601c367749063ffe
https://doi.org/10.20944/preprints202112.0219.v1

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

Autor: Cinzia Cosini, Francesca Spina, Caterina Congregati, Stefania Tommasi, Mariella Tancredi, Rosa Scarpitta, Enrico Tagliafico, Francesca Bellè, Tiziana Cervelli, Luisa Balestrino, Elisabetta Falaschi, Maria Grazia Tibiletti, Gaetana Gambino, Alvaro Galli, Eleonora Conti, Elena Tenedini, Marco Marino, Paolo Aretini, Ileana Carnevali, Matteo Ghilli, Caterina Vivanet, Chiara Guglielmi, Laura Cortesi, Brunella Pilato, Margherita Patruno, Maria A. Caligo

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 7693, p 7693 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 14

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c72eb2f79369f6234a7eb40fee995
https://doi.org/10.3390/ijms22147693

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.