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Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer.
Mutter RW, Riaz N, Ng CK, Delsite R, Piscuoglio S, Edelweiss M, Martelotto LG, Sakr RA, King TA, Giri DD, Drobnjak M, Brogi E, Bindra R, Bernheim G, Lim RS, Blecua P, Desrichard A, Higginson D, Towers R, Jiang R, Lee W, Weigelt B, Reis-Filho JS, Powell SN. Mutter RW, et al. Among authors: lim rs. J Pathol. 2017 Jun;242(2):165-177. doi: 10.1002/path.4890. Epub 2017 Apr 27. J Pathol. 2017. PMID: 28299801 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. Among authors: lim rs. Nat Commun. 2018 Aug 30;9(1):3533. doi: 10.1038/s41467-018-05886-y. Nat Commun. 2018. PMID: 30166553 Free PMC article.
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, Abida W, Juluru K, De Bruijn I, Hou C, Venn O, Lim R, Anand A, Maddala T, Gnerre S, Vijaya Satya R, Liu Q, Shen L, Eattock N, Yue J, Blocker AW, Lee M, Sehnert A, Xu H, Hall MP, Santiago-Zayas A, Novotny WF, Isbell JM, Rusch VW, Plitas G, Heerdt AS, Ladanyi M, Hyman DM, Jones DR, Morrow M, Riely GJ, Scher HI, Rudin CM, Robson ME, Diaz LA Jr, Solit DB, Aravanis AM, Reis-Filho JS. Razavi P, et al. Nat Med. 2019 Dec;25(12):1928-1937. doi: 10.1038/s41591-019-0652-7. Epub 2019 Nov 25. Nat Med. 2019. PMID: 31768066 Free PMC article. Clinical Trial.
Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification.
Ng CK, Martelotto LG, Gauthier A, Wen HC, Piscuoglio S, Lim RS, Cowell CF, Wilkerson PM, Wai P, Rodrigues DN, Arnould L, Geyer FC, Bromberg SE, Lacroix-Triki M, Penault-Llorca F, Giard S, Sastre-Garau X, Natrajan R, Norton L, Cottu PH, Weigelt B, Vincent-Salomon A, Reis-Filho JS. Ng CK, et al. Among authors: lim rs. Genome Biol. 2015 May 22;16(1):107. doi: 10.1186/s13059-015-0657-6. Genome Biol. 2015. PMID: 25994018 Free PMC article.
Genomic landscape of adenoid cystic carcinoma of the breast.
Martelotto LG, De Filippo MR, Ng CK, Natrajan R, Fuhrmann L, Cyrta J, Piscuoglio S, Wen HC, Lim RS, Shen R, Schultheis AM, Wen YH, Edelweiss M, Mariani O, Stenman G, Chan TA, Colombo PE, Norton L, Vincent-Salomon A, Reis-Filho JS, Weigelt B. Martelotto LG, et al. Among authors: lim rs. J Pathol. 2015 Oct;237(2):179-89. doi: 10.1002/path.4573. Epub 2015 Jul 14. J Pathol. 2015. PMID: 26095796 Free PMC article.
Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships.
Sakr RA, Schizas M, Carniello JV, Ng CK, Piscuoglio S, Giri D, Andrade VP, De Brot M, Lim RS, Towers R, Weigelt B, Reis-Filho JS, King TA. Sakr RA, et al. Among authors: lim rs. Mol Oncol. 2016 Feb;10(2):360-70. doi: 10.1016/j.molonc.2015.11.001. Epub 2015 Nov 14. Mol Oncol. 2016. PMID: 26643573 Free PMC article.
Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression.
Piscuoglio S, Ng CK, Murray M, Burke KA, Edelweiss M, Geyer FC, Macedo GS, Inagaki A, Papanastasiou AD, Martelotto LG, Marchio C, Lim RS, Ioris RA, Nahar PK, Bruijn ID, Smyth L, Akram M, Ross D, Petrini JH, Norton L, Solit DB, Baselga J, Brogi E, Ladanyi M, Weigelt B, Reis-Filho JS. Piscuoglio S, et al. Among authors: lim rs. J Pathol. 2016 Mar;238(4):508-18. doi: 10.1002/path.4672. Epub 2016 Jan 25. J Pathol. 2016. PMID: 26832993 Free PMC article.
The Landscape of Somatic Genetic Alterations in Metaplastic Breast Carcinomas.
Ng CKY, Piscuoglio S, Geyer FC, Burke KA, Pareja F, Eberle CA, Lim RS, Natrajan R, Riaz N, Mariani O, Norton L, Vincent-Salomon A, Wen YH, Weigelt B, Reis-Filho JS. Ng CKY, et al. Among authors: lim rs. Clin Cancer Res. 2017 Jul 15;23(14):3859-3870. doi: 10.1158/1078-0432.CCR-16-2857. Epub 2017 Feb 2. Clin Cancer Res. 2017. PMID: 28153863 Free PMC article.
87 results