IFOM Genome Diagnostics program
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Publications Genome Diagnostics

  1. EBI2 is a negative modulator of brown adipose tissue energy expenditure in mice and human brown adipocytes.
    Copperi F, Schleis I, Roumain M, Muccioli GG, Casola S, Klingenspor M, Pfeifer A, Gnad T.
    Commun Biol. 2022 Mar 29;5(1):280. doi: 10.1038/s42003-022-03201-6. PMID: 35351968.

  2. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
    Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, et al.
    Genet Med. 2022 Jan;24(1):119-129.

  3. Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.
    Peterlongo P, Figlioli G, Deans AJ, Couch FJ.
    NPJ Breast Cancer. 2021 Sep 28;7(1):130.

  4. 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 et al.
    Cancers (Basel). 2021 Jan 30;13(3):532.

  5. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
    Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, et al.
    N Engl J Med. 2021 Feb 4;384(5):428-439.

  6. SARS-CoV2 vertical transmission with adverse effects on the newborn revealed through integrated immunohistochemical, electron microscopy and molecular analyses of Placenta.
    Facchetti F, Bugatti M, Drera E, Tripodo C, Sartori E, Cancila V, Papaccio M, Castellani R, Casola S, Boniotti MB, Cavadini P, Lavazza A.
    EBioMedicine. 2020 Sep;59:102951. doi: 10.1016/j.ebiom.2020.102951. PMID: 32818801.

  7. A Spatially Resolved Dark- versus Light-Zone Microenvironment Signature Subdivides Germinal Center-Related Aggressive B Cell Lymphomas.
    Tripodo C, Zanardi F, Iannelli F, Mazzara S, Vegliante M, Morello G, Di Napoli A, Mangogna A, Facchetti F, Sangaletti S, Chiodoni C, VanShoiack A, Jeyasekharan AD, Casola S, Colombo MP, Ponzoni M, Pileri SA..
    iScience. 2020 Sep 16;23(10):101562. doi: 10.1016/j.isci.2020.101562. eCollection 2020 Oct 23. PMID: 33083730

  8. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
    Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, et al.
    Nat Genet. 2020 Jun;52(6):572-581.

  9. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
    Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, et al.
    J Clin Oncol. 2020 Mar;38(7):674-685.

  10. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
    Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, et al.
    Cancers (Basel). 2020 Jan 26;12(2).

  11. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, et al.
    NPJ Breast Cancer. 2019 Nov;5:38. doi: 10.1038/s41523-019-0127-5.

  12. Accomplishments, Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition.
    Peterlongo P, Carvajal-Carmona LG.
    Front Oncol. 2019 Aug 28;9:841. doi: 10.3389/fonc.2019.00841. eCollection 2019.

  13. The B cell receptor in control of tumor B cell fitness: biology and clinical relevance.
    Casola S, Perucho L, Tripodo C, Sindaco P, Ponzoni M, Facchetti F.
    Immunol. Rev. 2019.Mar;288(1):198-213. doi: 10.1111/imr.12738. PMID: 30874349.

  14. Two truncating variants in FANCC and breast cancer risk.
    Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, et al.
    Sci Rep. 2019;9(1):12524. doi: 10.1038/s41598-019-48804-y.

  15. Impact of systemic and tumor lipid metabolism on everolimusefficacy in advanced pancreatic neuroendocrine tumors (pNETs).
    Vernieri C, Pusceddu S, Fucà G, Indelicato P, Centonze G, Castagnoli, L Ferrari E, Ajazi A, Pupa S, Casola S, Foiani M, Mazzaferro V, Pruneri G, Milione M, de Braud F.
    Int J Cancer. 2018. Dec 5. doi: 10.1002/ijc.32042. PMID: 30520016.

  16. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
    Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å,Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.
    Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. PMID: 28837162.

  17. Targeting Gene Function in Germinal Center B Cells: A Practical Approach.
    Petrocelli V, Casola S.
    Methods Mol Biol. 2017;1623:209-231. doi:10.1007/978-1-4939-7095-7_17. PMID: 28589359.

  18. The B-cell receptor controls fitness of MYC-driven lymphoma cells via GSK3β inhibition.
    Varano G, Raffel S, Sormani M, Zanardi F, Lonardi S, Zasada C, Perucho L,Petrocelli V, Haake A, Lee AK, Bugatti M, Paul U, Van Anken E, Pasqualucci L, Rabadan R, Siebert R, Kempa S, Ponzoni M, Facchetti F, Rajewsky K, Casola S.
    Nature. 2017 Jun 8;546(7657):302-306. doi: 10.1038/nature22353. PMID: 28562582.

  19. EBI2 Is Highly Expressed in Multiple Sclerosis Lesions and Promotes Early CNS Migration of Encephalitogenic CD4 T Cells.
    Wanke F, Moos S, Croxford AL, Heinen AP, Gräf S, Kalt B, Tischner D, Zhang J, Christen I, Bruttger J, Yogev N, Tang Y, Zayoud M, Israel N, Karram K, Reißig S, Lacher SM, Reichhold C, Mufazalov IA, Ben-Nun A, Kuhlmann T, Wettschureck N, Sailer AW, Rajewsky K, Casola S, Waisman A, Kurschus FC.
    Cell Rep. 2017 Jan 31;18(5):1270-1284. doi: 10.1016/j.celrep.2017.01.020

Genome diagnostics