1. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021) Authors: Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement. Issue 4 (April 2021) Authors: Urso, Emanuele Damiano Luca; Ponz de Leon, Maurizio; Vitellaro, Marco; Piozzi, Guglielmo Niccolò; Bao, Quoc Riccardo; Martayan, Aline; Remo, Andrea; Stigliano, Vittoria; Oliani, Cristina; Lucci Cordisco, Emanuela; Pucciarelli, Salvatore; Ranzani, Guglielmina Nadia; Viel, Alessandra; Adami, France... Journal: Digestive and liver disease Issue: Volume 53:Issue 4(2021) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants. Issue 12 (26th October 2021) Authors: Dell'Elice, Anastasia; Cini, Giulia; Fornasarig, Mara; Armelao, Franco; Barana, Daniela; Bianchi, Francesca; Casalis Cavalchini, Guido Claudio; Maffè, Antonella; Mammi, Isabella; Pedroni, Monica; Percesepe, Antonio; Sorrentini, Italo; Tibiletti, Mariagrazia; Maestro, Roberta; Quaia, Michele; Viel... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome. Issue 7 (1st September 2017) Authors: Carnevali, Ileana; Libera, Laura; Chiaravalli, Annamaria; Sahnane, Nora; Furlan, Daniela; Viel, Alessandra; Cini, Giulia; Cimetti, Laura; Rossi, Thomas; Formenti, Giorgio; Ghezzi, Fabio; Riva, Cristina; Sessa, Fausto; Tibiletti, Maria Grazia Journal: International journal of gynecological cancer Issue: Volume 27:Issue 7(2017) Page Start: 1543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome. Issue 7 (September 2017) Authors: Carnevali, Ileana; Libera, Laura; Chiaravalli, Annamaria; Sahnane, Nora; Furlan, Daniela; Viel, Alessandra; Cini, Giulia; Cimetti, Laura; Rossi, Thomas; Formenti, Giorgio; Ghezzi, Fabio; Riva, Cristina; Sessa, Fausto; Tibiletti, Maria Grazia Journal: International journal of gynecological cancer Issue: Volume 27:Issue 7(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype. Issue 5 (27th March 2019) Authors: Cini, Giulia; Quaia, Michele; Canzonieri, Vincenzo; Fornasarig, Mara; Maestro, Roberta; Morabito, Alberto; D'Elia, Angela Valentina; Urso, Emanuele Damiano; Mammi, Isabella; Viel, Alessandra Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 5(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. Issue 1 (December 2016) Authors: Cini, Giulia; Mezzavilla, Massimo; Della Puppa, Lara; Cupelli, Elisa; Fornasin, Alessio; D'Elia, Angela; Dolcetti, Riccardo; Damante, Giuseppe; Bertok, Sara; Miolo, Gianmaria; Maestro, Roberta; de Paoli, Paolo; Amoroso, Antonio; Viel, Alessandra Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Universal testing for MSI/MMR status in colorectal and endometrial cancers to identify Lynch syndrome cases: state of the art in Italy and consensus recommendations from the Italian Association for the Study of Familial Gastrointestinal Tumors (A.I.F.E.G.). Issue 1 (January 2022) Authors: Tibiletti, Maria Grazia; Carnevali, Ileana; Calò, Valentina; Cini, Giulia; Lucci Cordisco, Emanuela; Remo, Andrea; Urso, Emanuele; Oliani, Cristina; Ranzani, Guglielmina Nadia Journal: European journal of cancer prevention Issue: Volume 31:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Universal testing for MSI/MMR status in colorectal and endometrial cancers to identify Lynch syndrome cases: state of the art in Italy and consensus recommendations from the Italian Association for the Study of Familial Gastrointestinal Tumors (A.I.F.E.G.). Issue 1 (23rd March 2021) Authors: Tibiletti, Maria Grazia; Carnevali, Ileana; Calò, Valentina; Cini, Giulia; Lucci Cordisco, Emanuela; Remo, Andrea; Urso, Emanuele; Oliani, Cristina; Ranzani, Guglielmina Nadia Journal: European journal of cancer prevention Issue: Volume 31:Issue 1(2022) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗