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Page 1
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31428676 Free PMC article.
MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.
Kim J, Geyer FC, Martelotto LG, Ng CK, Lim RS, Selenica P, Li A, Pareja F, Fusco N, Edelweiss M, Kumar R, Gularte-Merida R, Forbes AN, Khurana E, Mariani O, Badve S, Vincent-Salomon A, Norton L, Reis-Filho JS, Weigelt B. Kim J, et al. J Pathol. 2018 Feb;244(2):143-150. doi: 10.1002/path.5006. Epub 2017 Dec 28. J Pathol. 2018. PMID: 29149504 Free PMC article.
Solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (solid papillary carcinomas with reverse polarity) harbour recurrent mutations affecting IDH2 and PIK3CA: a validation cohort.
Lozada JR, Basili T, Pareja F, Alemar B, Paula ADC, Gularte-Merida R, Giri DD, Querzoli P, Cserni G, Rakha EA, Foschini MP, Reis-Filho JS, Brogi E, Weigelt B, Geyer FC. Lozada JR, et al. Histopathology. 2018 Aug;73(2):339-344. doi: 10.1111/his.13522. Epub 2018 Jun 1. Histopathology. 2018. PMID: 29603332 Free PMC article.
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B, Reis-Filho JS. Pareja F, et al. Nat Commun. 2018 Aug 30;9(1):3533. doi: 10.1038/s41467-018-05886-y. Nat Commun. 2018. PMID: 30166553 Free PMC article.
The Genomic Landscape of Mucinous Breast Cancer.
Pareja F, Lee JY, Brown DN, Piscuoglio S, Gularte-Mérida R, Selenica P, Da Cruz Paula A, Arunachalam S, Kumar R, Geyer FC, Silveira C, da Silva EM, Li A, Marchiò C, Ng CKY, Mariani O, Fuhrmann L, Wen HY, Norton L, Vincent-Salomon A, Brogi E, Reis-Filho JS, Weigelt B. Pareja F, et al. J Natl Cancer Inst. 2019 Jul 1;111(7):737-741. doi: 10.1093/jnci/djy216. J Natl Cancer Inst. 2019. PMID: 30649385 Free PMC article.
Assessment of HMGA2 and PLAG1 rearrangements in breast adenomyoepitheliomas.
Pareja F, Geyer FC, Brown DN, Sebastião APM, Gularte-Mérida R, Li A, Edelweiss M, Da Cruz Paula A, Selenica P, Wen HY, Jungbluth AA, Varga Z, Palazzo J, Rubin BP, Ellis IO, Brogi E, Rakha EA, Weigelt B, Reis-Filho JS. Pareja F, et al. NPJ Breast Cancer. 2019 Jan 18;5:6. doi: 10.1038/s41523-018-0101-7. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 30675516 Free PMC article.
PAX8-GLIS3 gene fusion is a pathognomonic genetic alteration of hyalinizing trabecular tumors of the thyroid.
Marchiò C, Da Cruz Paula A, Gularte-Merida R, Basili T, Brandes A, da Silva EM, Silveira C, Ferrando L, Metovic J, Maletta F, Annaratone L, Pareja F, Rubin BP, Hoschar AP, De Rosa G, La Rosa S, Bongiovanni M, Purgina B, Piana S, Volante M, Weigelt B, Reis-Filho JS, Papotti M. Marchiò C, et al. Mod Pathol. 2019 Dec;32(12):1734-1743. doi: 10.1038/s41379-019-0313-x. Epub 2019 Jul 4. Mod Pathol. 2019. PMID: 31273314 Free PMC article.
26 results