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https://www.readbyqxmd.com/read/28710865/neoadjuvant-chemotherapy-in-triple-negative-breast-cancer-a-multicentric-retrospective-observational-study-in-real-life-setting
#1
Teresa Gamucci, Laura Pizzuti, Isabella Sperduti, Lucia Mentuccia, Angela Vaccaro, Luca Moscetti, Paolo Marchetti, Luisa Carbognin, Andrea Michelotti, Laura Iezzi, Alessandra Cassano, Antonino Grassadonia, Antonio Astone, Andrea Botticelli, Emanuela Magnolfi, Luigi Di Lauro, Domenico Sergi, Paola Fuso, Nicola Tinari, Maddalena Barba, Marcello Maugeri-Saccà, Elisabetta Landucci, Francesca Conti, Giuseppe Sanguineti, Michele De Tursi, Gianni Iafrate, Antonio Giordano, Gennaro Ciliberto, Clara Natoli, Patrizia Vici
We aimed to assess the efficacy of neoadjuvant chemotherapy (NACT) in a cohort of 213 triple-negative breast cancer (TNBC) patients treated in real-world practice at 8 Italian cancer centres. We computed descriptive statistics for all the variable of interest. Factors testing significant in univariate analysis were included in multivariate models. Survival data were compared by Kaplan-Meier curves and log-rank test. The median follow-up was 45 months. We observed 60 (28.2%) pathological complete response (pCR)...
July 15, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28658208/recurrent-and-functional-regulatory-mutations-in-breast-cancer
#2
Esther Rheinbay, Prasanna Parasuraman, Jonna Grimsby, Grace Tiao, Jesse M Engreitz, Jaegil Kim, Michael S Lawrence, Amaro Taylor-Weiner, Sergio Rodriguez-Cuevas, Mara Rosenberg, Julian Hess, Chip Stewart, Yosef E Maruvka, Petar Stojanov, Maria L Cortes, Sara Seepo, Carrie Cibulskis, Adam Tracy, Trevor J Pugh, Jesse Lee, Zongli Zheng, Leif W Ellisen, A John Iafrate, Jesse S Boehm, Stacey B Gabriel, Matthew Meyerson, Todd R Golub, Jose Baselga, Alfredo Hidalgo-Miranda, Toshi Shioda, Andre Bernards, Eric S Lander, Gad Getz
Genomic analysis of tumours has led to the identification of hundreds of cancer genes on the basis of the presence of mutations in protein-coding regions. By contrast, much less is known about cancer-causing mutations in non-coding regions. Here we perform deep sequencing in 360 primary breast cancers and develop computational methods to identify significantly mutated promoters. Clear signals are found in the promoters of three genes. FOXA1, a known driver of hormone-receptor positive breast cancer, harbours a mutational hotspot in its promoter leading to overexpression through increased E2F binding...
July 6, 2017: Nature
https://www.readbyqxmd.com/read/28652163/health-related-quality-of-life-after-radical-cystectomy-a-cross-sectional-study-with-matched-pair-analysis-on-ileal-conduit-versus-ileal-orthotopic-neobladder-diversion
#3
Maria Angela Cerruto, Carolina D'Elia, Salvatore Siracusano, Omar Saleh, Mauro Gacci, Giovanni Cacciamani, Vincenzo De Marco, Antonio Benito Porcaro, Matteo Balzarro, Mauro Niero, Cristina Lonardi, Massimo Iafrate, Pierfrancesco Bassi, Ciro Imbimbo, Marco Racioppi, Renato Talamini, Stefano Ciciliato, Sergio Serni, Marco Carini, Paolo Verze, Walter Artibani
OBJECTIVE: To examine the different and Health-Related Quality of Life (HR-QoL) outcomes between ileal conduit (IC) vs. ileal-orthotopic-neobladder (IONB) in patients who underwent RC for primary BC, by using validated self-reported cancer-specific instruments. METHODS: This retrospective, cross sectional, multicentre cohort study included 148 and 171 patients who underwent RC with either IC or IONB with curative intent. HR-QoL was evaluated with QLQ.C-30 and BLM-30 EORTC questionnaires...
June 23, 2017: Urology
https://www.readbyqxmd.com/read/28641066/free-to-love-the-role-of-intrusive-parenting-for-young-adult-children-s-romantic-relationship-quality
#4
Miriam Parise, Claudia Manzi, Silvia Donato, Raffaella Iafrate
Intrusive parenting is a form of boundary disturbance in the parent-child relationship which has been consistently associated with children's maladjustment. The present study examines the role of intrusive parenting for young adult children's romantic relationship quality. Relying on data from a two-wave longitudinal study among young couples in transition to marriage in Italy, we investigated the link between young adults' perceived intrusive parenting and change in their romantic relationship quality from 6 months before marriage to 18 months after marriage, as well as the mediating role of change in the capacity to include the partner in the self...
July 2017: Journal of Prevention & Intervention in the Community
https://www.readbyqxmd.com/read/28641064/a-qualitative-evaluation-of-a-preventive-intervention-for-parents-the-groups-for-family-enrichment_parent-version-gfe_p
#5
Anna Bertoni, Silvia Donato, Antonella Morgano, Raffaella Iafrate, Rosa Rosnati
The traditional objective of parenting enrichment programs is to train parents' abilities and specific competences, but less attention is paid to promoting participants' reflection on their parental identity. These programs are generally delivered to groups of parents, though the group is rarely considered a specific tool to promote changes in participants' relational functioning. The Groups for Family Enrichment_Parent version (GFE_P; Iafrate, Donato, & Bertoni, 2010 ; Iafrate & Rosnati, 2007 ) focus on parental identity in addition to parental competences and skills and purposely use the group of parents as an educational tool, adopting a semistructured format...
July 2017: Journal of Prevention & Intervention in the Community
https://www.readbyqxmd.com/read/28625978/the-alkylating-chemotherapeutic-temozolomide-induces-metabolic-stress-in-idh1-mutant-cancers-and-potentiates-nad-depletion-mediated-cytotoxicity
#6
Kensuke Tateishi, Fumi Higuchi, Julie Miller, Mara V A Koerner, Nina Lelic, Ganesh M Shankar, Shota Tanaka, David E Fisher, Tracy Batchelor, A John Iafrate, Hiroaki Wakimoto, Andrew S Chi, Daniel P Cahill
IDH1-mutant gliomas are dependent upon the canonical coenzyme nicotinamide adenine dinucleotide (NAD+) for survival. It is known that Poly(ADP-ribose) polymerase (PARP) activation consumes NAD+ during base excision repair (BER) of chemotherapy-induced DNA damage. We therefore hypothesized that a strategy combining NAD+ biosynthesis inhibitors with the alkylating chemotherapeutic agent temozolomide (TMZ) could potentiate NAD+ depletion-mediated cytotoxicity in mutant IDH1 cancer cells. To investigate the impact of TMZ on NAD+ metabolism, patient-derived xenografts and engineered mutant IDH1-expressing cell lines were exposed to TMZ, in vitro and in vivo, both alone and in combination with nicotinamide phosphoribosyltransferase (NAMPT) inhibitors, which block NAD+ biosynthesis...
June 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#7
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28391773/kif13b-nrg1-gene-fusion-and-kras-amplification-in-a-case-of-natural-progression-of-lung-cancer
#8
Daniel Xia, Long Phi Le, Anthony John Iafrate, Jochen Lennerz
An 85-year-old woman with a history of several primary lung cancers presented with liver metastases. The primary lung cancers were all managed surgically and the patient did not receive adjuvant or neoadjuvant therapy prior to presenting with metastases. Comparison of molecular testing results from the most recent primary and the liver metastases demonstrated ( a) a clonal relationship between the 2 cancers and ( 2) the presence of a KIF13B-NRG1 fusion and KRAS amplification unique to the metastases. When integrated, the molecular surgical pathology findings in this case illustrate the extent of "oncogenic drive" in preterminal lung cancer...
May 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28360267/decoupling-genetics-lineages-and-microenvironment-in-idh-mutant-gliomas-by-single-cell-rna-seq
#9
Andrew S Venteicher, Itay Tirosh, Christine Hebert, Keren Yizhak, Cyril Neftel, Mariella G Filbin, Volker Hovestadt, Leah E Escalante, McKenzie L Shaw, Christopher Rodman, Shawn M Gillespie, Danielle Dionne, Christina C Luo, Hiranmayi Ravichandran, Ravindra Mylvaganam, Christopher Mount, Maristela L Onozato, Brian V Nahed, Hiroaki Wakimoto, William T Curry, A John Iafrate, Miguel N Rivera, Matthew P Frosch, Todd R Golub, Priscilla K Brastianos, Gad Getz, Anoop P Patel, Michelle Monje, Daniel P Cahill, Orit Rozenblatt-Rosen, David N Louis, Bradley E Bernstein, Aviv Regev, Mario L Suvà
Tumor subclasses differ according to the genotypes and phenotypes of malignant cells as well as the composition of the tumor microenvironment (TME). We dissected these influences in isocitrate dehydrogenase (IDH)-mutant gliomas by combining 14,226 single-cell RNA sequencing (RNA-seq) profiles from 16 patient samples with bulk RNA-seq profiles from 165 patient samples. Differences in bulk profiles between IDH-mutant astrocytoma and oligodendroglioma can be primarily explained by distinct TME and signature genetic events, whereas both tumor types share similar developmental hierarchies and lineages of glial differentiation...
March 31, 2017: Science
https://www.readbyqxmd.com/read/28296680/primitive-neuroectodermal-tumors-of-the-female-genital-tract-a-morphologic-immunohistochemical-and-molecular-study-of-19-cases
#10
Sarah Chiang, Matija Snuderl, Sakiko Kojiro-Sanada, Ariadna Quer Pi-Sunyer, Dean Daya, Tohru Hayashi, Luisanna Bosincu, Fumihiro Ogawa, Andrew E Rosenberg, Lars-Christian Horn, Lu Wang, A John Iafrate, Esther Oliva
Primary primitive neuroectodermal tumor (PNET) of the female genital tract is rare, and its proper classification remains unclear. The clinical, histologic, and immunophenotypic features as well as EWSR1 rearrangement status of 19 gynecologic PNETs, including 10 ovarian, 8 uterine, and 1 vulvar tumors, are herein reported. Patient age ranged from 12 to 68 years, with a median age of 20 and 51 years among those with ovarian and uterine PNETs, respectively. Morphologic features of central nervous system (CNS) tumors were seen in 15 PNETs, including 9 medulloblastomas, 3 ependymomas, 2 medulloepitheliomas, and 1 glioblastoma, consistent with central PNET...
June 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28266931/biliary-adenofibroma-of-liver-morphology-tumor-genetics-and-outcomes-in-6-cases
#11
Thomas Arnason, Darrell R Borger, Christopher Corless, Catherine Hagen, A John Iafrate, Hala Makhlouf, Joseph Misdraji, Heidi Sapp, Wilson M Tsui, Ian R Wanless, Tania Zuluaga Toro, Gregory Y Lauwers
Biliary adenofibroma is a rare primary hepatic neoplasm, recognized in the World Health Organization classification, although only 14 cases have been reported to date. This series includes extended follow-up from 2 of the early case reports and 4 novel cases. Clinical history and histology were reviewed in all 6 cases. Tumor DNA was analyzed for point mutations by multiplex polymerase chain reaction and copy number alterations by array comparative genomic hybridization. The patients included 4 females and 2 males presenting between 46 and 83 years of age, with tumors ranging from 7 to 16 cm in diameter...
April 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28236104/uterine-fibroid-therapy-using-interventional-radiology-mini-invasive-treatments-current-perspective
#12
REVIEW
Carlo Masciocchi, Francesco Arrigoni, Fabiana Ferrari, Aldo Victor Giordano, Sonia Iafrate, Ilaria Capretti, Ester Cannizzaro, Alfonso Reginelli, Anna Maria Ierardi, Chiara Floridi, Alessio Salvatore Angileri, Luca Brunese, Antonio Barile
Uterine fibroids are common benign tumors of unclear etiopathology that affect the female reproductive tract. They are responsible for considerable morbidity and deterioration of life quality, and may have a negative impact on the reproductive system as well. Besides surgery aided by uterus-saving techniques, several minimally invasive procedures are now available within the field of interventional radiology that represent a valid solution for women who desire pregnancy and relief from disease-specific symptomatology...
April 2017: Medical Oncology
https://www.readbyqxmd.com/read/28188106/analytical-validation-of-the-next-generation-sequencing-assay-for-a-nationwide-signal-finding-clinical-trial-molecular-analysis-for-therapy-choice-clinical-trial
#13
Chih-Jian Lih, Robin D Harrington, David J Sims, Kneshay N Harper, Courtney H Bouk, Vivekananda Datta, Jonathan Yau, Rajesh R Singh, Mark J Routbort, Rajyalakshmi Luthra, Keyur P Patel, Geeta S Mantha, Savitri Krishnamurthy, Karyn Ronski, Zenta Walther, Karin E Finberg, Sandra Canosa, Hayley Robinson, Amelia Raymond, Long P Le, Lisa M McShane, Eric C Polley, Barbara A Conley, James H Doroshow, A John Iafrate, Jeffrey L Sklar, Stanley R Hamilton, P Mickey Williams
The National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) trial is a national signal-finding precision medicine study that relies on genomic assays to screen and enroll patients with relapsed or refractory cancer after standard treatments. We report the analytical validation processes for the next-generation sequencing (NGS) assay that was tailored for regulatory compliant use in the trial. The Oncomine Cancer Panel assay and the Personal Genome Machine were used in four networked laboratories accredited for the Clinical Laboratory Improvement Amendments...
March 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28144970/pulmonary-adenocarcinoma-with-epidermal-growth-factor-receptor-mutations-in-asbestos-exposed-non-smokers-a-case-series
#14
Richard L Kradin, John Iafrate, David C Christiani
BACKGROUND: Cigarette smoke and asbestos are recognized causes of lung carcinoma and together promote carcinogenesis. Adenocarcinoma is currently the most common cause of lung cancer in the USA and it has been linked to both smoking and asbestos exposure. Mutations in the epidermal growth factor gene receptor (EGFR) occur predominantly in non-smokers with adenocarcinoma. Methods Mutations in the EGFR gene were investigated using next-generation sequencing. RESULTS: We report the presence of EGFR exon point mutations in the pulmonary adenocarcinomas of three never-smokers occupationally exposed to asbestos...
February 1, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28088512/ros1-fusions-rarely-overlap-with-other-oncogenic-drivers-in-non-small-cell-lung-cancer
#15
Jessica J Lin, Lauren L Ritterhouse, Siraj M Ali, Mark Bailey, Alexa B Schrock, Justin F Gainor, Lorin A Ferris, Mari Mino-Kenudson, Vincent A Miller, Anthony J Iafrate, Jochen K Lennerz, Alice T Shaw
INTRODUCTION: Chromosomal rearrangements involving the gene ROS1 define a distinct molecular subset of NSCLCs with sensitivity to ROS1 inhibitors. Recent reports have suggested a significant overlap between ROS1 fusions and other oncogenic driver alterations, including mutations in EGFR and KRAS. METHODS: We identified patients at our institution with ROS1-rearranged NSCLC who had undergone testing for genetic alterations in additional oncogenes, including EGFR, KRAS, and anaplastic lymphoma receptor tyrosine kinase gene (ALK)...
May 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28059100/a-tailored-approach-to-braf-and-mlh1-methylation-testing-in-a-universal-screening-program-for-lynch-syndrome
#16
Tomer Adar, Linda H Rodgers, Kristen M Shannon, Makoto Yoshida, Tianle Ma, Anthony Mattia, Gregory Y Lauwers, Anthony J Iafrate, Daniel C Chung
To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promoter methylation. Tumors positive for both were considered sporadic, and genetic testing was recommended for all others. A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28034880/polyclonal-secondary-fgfr2-mutations-drive-acquired-resistance-to-fgfr-inhibition-in-patients-with-fgfr2-fusion-positive-cholangiocarcinoma
#17
Lipika Goyal, Supriya K Saha, Leah Y Liu, Giulia Siravegna, Ignaty Leshchiner, Leanne G Ahronian, Jochen K Lennerz, Phuong Vu, Vikram Deshpande, Avinash Kambadakone, Benedetta Mussolin, Stephanie Reyes, Laura Henderson, Jiaoyuan Elisabeth Sun, Emily E Van Seventer, Joseph M Gurski, Sabrina Baltschukat, Barbara Schacher-Engstler, Louise Barys, Christelle Stamm, Pascal Furet, David P Ryan, James R Stone, A John Iafrate, Gad Getz, Diana Graus Porta, Ralph Tiedt, Alberto Bardelli, Dejan Juric, Ryan B Corcoran, Nabeel Bardeesy, Andrew X Zhu
Genetic alterations in the fibroblast growth factor receptor (FGFR) pathway are promising therapeutic targets in many cancers, including intrahepatic cholangiocarcinoma (ICC). The FGFR inhibitor BGJ398 displayed encouraging efficacy in patients with FGFR2 fusion-positive ICC in a phase II trial, but the durability of response was limited in some patients. Here, we report the molecular basis for acquired resistance to BGJ398 in three patients via integrative genomic characterization of cell-free circulating tumor DNA (cfDNA), primary tumors, and metastases...
March 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28032319/religiosity-marital-quality-and-couple-generativity-in-italian-couples-belonging-to-a-catholic-spiritual-association-a-quali-quantitative-study
#18
Miriam Parise, Fabiana Gatti, Raffaella Iafrate
The current studies aimed, firstly, at exploring the relationship between the level of religiosity and marital outcomes, in terms of relationship quality and couple generativity; secondly, at gaining insight into which strategies the couples use to ensure their marital quality/couple generativity, and understanding if religious practices have a positive influence on the development of such strategies. The studies focused on a specific aspect of religiosity, that is the active involvement in a Catholic association, and compared couples with a high level of religious involvement (HRI) belonging to a Catholic international association (New Families) and couples with a low level of religious involvement (LRI)...
December 28, 2016: Journal of Religion and Health
https://www.readbyqxmd.com/read/27984905/outstanding-performance-of-configuration-interaction-singles-and-doubles-using-exact-exchange-kohn-sham-orbitals-in-real-space-numerical-grid-method
#19
Jaechang Lim, Sunghwan Choi, Jaewook Kim, Woo Youn Kim
To assess the performance of multi-configuration methods using exact exchange Kohn-Sham (KS) orbitals, we implemented configuration interaction singles and doubles (CISD) in a real-space numerical grid code. We obtained KS orbitals with the exchange-only optimized effective potential under the Krieger-Li-Iafrate (KLI) approximation. Thanks to the distinctive features of KLI orbitals against Hartree-Fock (HF), such as bound virtual orbitals with compact shapes and orbital energy gaps similar to excitation energies; KLI-CISD for small molecules shows much faster convergence as a function of simulation box size and active space (i...
December 14, 2016: Journal of Chemical Physics
https://www.readbyqxmd.com/read/27913435/idh2-mutations-define-a-unique-subtype-of-breast-cancer-with-altered-nuclear-polarity
#20
Sarah Chiang, Britta Weigelt, Huei-Chi Wen, Fresia Pareja, Ashwini Raghavendra, Luciano G Martelotto, Kathleen A Burke, Thais Basili, Anqi Li, Felipe C Geyer, Salvatore Piscuoglio, Charlotte K Y Ng, Achim A Jungbluth, Jörg Balss, Stefan Pusch, Gabrielle M Baker, Kimberly S Cole, Andreas von Deimling, Julie M Batten, Jonathan D Marotti, Hwei-Choo Soh, Benjamin L McCalip, Jonathan Serrano, Raymond S Lim, Kalliopi P Siziopikou, Song Lu, Xiaolong Liu, Tarek Hammour, Edi Brogi, Matija Snuderl, A John Iafrate, Jorge S Reis-Filho, Stuart J Schnitt
Solid papillary carcinoma with reverse polarity (SPCRP) is a rare breast cancer subtype with an obscure etiology. In this study, we sought to describe its unique histopathologic features and to identify the genetic alterations that underpin SPCRP using massively parallel whole-exome and targeted sequencing. The morphologic and immunohistochemical features of SPCRP support the invasive nature of this subtype. Ten of 13 (77%) SPCRPs harbored hotspot mutations at R172 of the isocitrate dehydrogenase IDH2, of which 8 of 10 displayed concurrent pathogenic mutations affecting PIK3CA or PIK3R1 One of the IDH2 wild-type SPCRPs harbored a TET2 Q548* truncating mutation coupled with a PIK3CA H1047R hotspot mutation...
December 15, 2016: Cancer Research
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