Cogentech | Pubblicazioni Diagnostica

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
Brignola C, Volorio S, De Vecchi G, Zaffaroni D, Dall'Olio V, Mariette F, Sardella D, Capra F, Signoroni S, Rausa E, Vitellaro M, Pensotti V, Ricci MT.
Tumori. 2024 Feb;110(1):69-73.doi: 10.1177/03008916231197113. Epub 2023 Sep 11. PMID: 37691472

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
Brignola C, Volorio S, De Vecchi G, Zaffaroni D, Dall'Olio V, Mariette F, Sardella D, Capra F, Signoroni S, Rausa E, Vitellaro M, Pensotti V, Ricci MT.
Tumori. 2024 Feb;110(1):69-73.doi: 10.1177/03008916231197113. Epub 2023 Sep 11. PMID: 37691472
Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.
Varinelli L, Guaglio M, Brich S, Zanutto S, Belfiore A, Zanardi F, Iannelli F, Oldani A, Costa E, Chighizola M, Lorenc E, Minardi SP, Fortuzzi S, Filugelli M, Garzone G, Pisati F, Vecchi M, Pruneri G, Kusamura S, Baratti D, Cattaneo L, Parazzoli D, Podestà A, Milione M, Deraco M, Pierotti MA, Gariboldi M.
J Mol Cell Biol. 2023 Apr 6;14(11):mjac064; doi: 10.1093/jmcb/mjac064.; Epub ahead of print. PMID: 36460033.

Exploring the association with disease recurrence of miRNAs predictive of colorectal cancer.
Zanutto S, Ciniselli CM, Belfiore A, Dall'Olio V, Tizzoni L, Varinelli L, Pierotti MA, Battaglia L, Verderio P, Guaglio M, Gariboldi M.
Int J Biol Markers. 2022 Mar;37(1):102-109. doi: 10.1177/17246008211064915. Epub 2021 Dec 21. PMID: 34931559.
Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.
Carnevali I, Tedaldi G, Pensotti V, Sahnane N, Micello D, Rovera F, Sessa F, Tibiletti MG.
Front Oncol. 2022 May 24;12:891426. doi: 10.3389/fonc.2022.891426. PMID: 35686104; PMCID: PMC9171007.
OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.
Tibiletti MG, Carnevali I, Pensotti V, Chiaravalli AM, Facchi S, Volorio S, Mariette F, Mariani P, Fortuzzi S, Pierotti MA, Sessa F.
Biomedicines. 2022 May 23;10(5):1208. doi: 10.3390/biomedicines10051208. PMID: 35625944; PMCID: PMC9138989

Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm.
Maragliano R, Libera L, Carnevali I, Pensotti V, De Vecchi G, Testa M, Amaglio C, Leoni E, Formenti G, Sessa F, Furlan D, Uccella S.
Endocr Pathol. 2022 Sep;33(3):400-410. doi: 10.1007/s12022-021-09689-8. Epub 2021 Aug 3. PMID: 34342838; PMCID: PMC9420090.
Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families
Azzollini J, Ferrari A, Stracuzzi A, Chiaravalli S, Terenziani M, Spreafico F, Grasso M, Collini P, Pensotti V, Massimino M, Arbustini E, Manoukian S.
Tumori. 2021 Dec;107(6):NP144-NP148. doi: 10.1177/03008916211058788. Epub 2021 Nov 11. PMID: 34761719.
Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Urso EDL, Ponz de leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group.
Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25. PMID: 33504457.
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G, De Nicolo A, Catucci I, Manoukian S, Peissel B, Azzollini J, Beltrami B, Bonanni B, Calvello M, Bondavalli D, Pasini B, Vignolo Lutati F, Ogliara P, Zuradelli M, Pensotti V, De Vecchi G, Volorio S, Verderio P, Pizzamiglio S, Matullo G, Aneli S, Birolo G, Zanardi F, Tondini C, Zambelli A, Livraghi L, Franchi M, Radice P, Peterlongo P.
Cancers (Basel). 2021 Jan 30;13(3):532. doi: 10.3390/cancers13030532. PMID: 33573335; PMCID: PMC7866799.
Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives.
Ficarazzi F, Vecchi M, Ferrari M, Pierotti MA.
Breast. 2021 Aug;58:121-129. doi: 10.1016/j.breast.2021.04.011. Epub 2021 May 12. PMID: 34022715; PMCID: PMC8164087.

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.
Azzollini J, Schiavello E, Buttarelli FR, Clerici CA, Tizzoni L, Vecchi G, Capra F, Pisati F, Biassoni V, Runza L, Carrabba G, Giangaspero F, Massimino M, Pensotti V, Manoukian S.
Cancers (Basel). 2020 Sep 3;12(9):2503. doi: 10.3390/cancers12092503. PMID: 32899294; PMCID: PMC7564492.

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci MT, Volorio S, Signoroni S, Mariani P, Mariette F, Sardella D, Pensotti V, Vitellaro M.
Tumori. 2019 Aug;105(4):338-352. doi: 10.1177/0300891619847085. Epub 2019 May 8. PMID: 31068090.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
Cancers (Basel). 2019 Mar 1;11(3):295. doi: 10.3390/cancers11030295. PMID: 30832263; PMCID: PMC6468917.
Performance of tumor testing for Lynch syndrome identification in patients with colorectal cancer: A retrospective single-center study.
Signoroni S, Tibiletti MG, Ricci MT, Milione M, Perrone F, Pensotti V, Chiaravalli AM, Carnevali I, Morabito A, Bertario L, Vitellaro M.
Tumori. 2019 Feb;105(1):76-83. doi: 10.1177/0300891618792460. Epub 2018 Aug 17. PMID: 30117378.

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P.
Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. PMID: 30410870; PMCID: PMC6210650.
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.
Bondavalli D, Malvestiti F, Pensotti V, Feroce I, Bonanni B.
Oncol Lett. 2018 Mar;15(3):3329-3332. doi: 10.3892/ol.2017.7711. Epub 2017 Dec 28. Erratum in: Oncol Lett. 2018 Sep;16(3):3408. PMID: 29435075; PMCID: PMC5778837.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, Domchek SM, Robson M, Spurdle AB, Ramus SJ, Mavaddat N, Terry MB, Neuhausen SL, Schmutzler RK, Simard J, Pharoah PDP, Offit K, Couch FJ, Chenevix-Trench G, Easton DF, Antoniou AC.
J Natl Cancer Inst. 2017 Jul 1;109(7):djw302. doi: 10.1093/jnci/djw302. PMID: 28376175; PMCID: PMC5408990.
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. Breast Cancer
Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL.
Res Treat. 2016 Nov;160(1):121-129. doi: 10.1007/s10549-016-3981-y. Epub 2016 Sep 13. PMID: 27624329; PMCID: PMC5551669.

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.
Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.
Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6. PMID: 27062684.
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Silvestri V, et al.
Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y. PMID: 26857456; PMCID: PMC4746828.

Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy.
Silvestri V, Rizzolo P, Scarnò M, Chillemi G, Navazio AS, Valentini V, Zelli V, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Pensotti V, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D, Ottini L.
Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy. Eur J Cancer. 2015 Nov;51(16):2289-95. doi: 10.1016/j.ejca.2015.07.020. Epub 2015 Aug 3. PMID: 26248686.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo P, et al.,
Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. PMID: 26130695; PMCID: PMC4550823.
Prediction of breast cancer risk based on profiling with common genetic variants.
Mavaddat N, et al,
J Natl Cancer Inst. 2015 Apr 8;107(5):djv036.doi: 10.1093/jnci/djv036.PMID: 25855707; PMCID: PMC4754625.
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Michailidou K, et al.,
Nat Genet. 2015 Apr;47(4):373-80.doi: 10.1038/ng.3242. Epub 2015 Mar 9. PMID: 25751625; PMCID: PMC4549775.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR, et al,
JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628. PMID: 25849179; PMCID: PMC4537700.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, et al.,
Nat Genet. 2015 Feb;47(2):164-71.doi: 10.1038/ng.3185. Epub 2015 Jan 12. PMID: 25581431; PMCID: PMC4445140.