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https://www.readbyqxmd.com/read/27836010/inheritance-of-deleterious-mutations-at-both-brca1-and-brca2-in-an-international-sample-of-32-295-women
#1
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus
BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case"...
November 11, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27821315/current-perspectives-on-recommendations-for-brca-genetic-testing-in-ovarian-cancer-patients
#2
Ignace Vergote, Susana Banerjee, Anne-Marie Gerdes, Christi van Asperen, Christian Marth, Fatima Vaz, Isabelle Ray-Coquard, Dominique Stoppa-Lyonnet, Antonio Gonzalez-Martin, Jalid Sehouli, Nicoletta Colombo
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients...
December 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27796716/association-of-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-modifier-of-breast-cancer-risk-at-locus-11q22-3
#3
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J Blok, Kristie Bobolis, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Maria A Caligo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Miguel De la Hoya, Kim De Leeneer, Orland Diez, Yuan Chun Ding, Riccardo Dolcetti, Susan M Domchek, Cecilia M Dorfling, Diana Eccles, Ros Eeles, Zakaria Einbeigi, Bent Ejlertsen, Christoph Engel, D Gareth Evans, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, William D Foulkes, George Fountzilas, Eitan Friedman, Debra Frost, Pamela Ganschow, Patricia A Ganz, Judy Garber, Simon A Gayther, Anne-Marie Gerdes, Gord Glendon, Andrew K Godwin, David E Goldgar, Mark H Greene, Jacek Gronwald, Eric Hahnen, Ute Hamann, Thomas V O Hansen, Steven Hart, John L Hays, Frans B L Hogervorst, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Walter Just, Katarzyna Kaczmarek, Beth Y Karlan, Carolien M Kets, Judy Kirk, Mieke Kriege, Yael Laitman, Maïté Laurent, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Niklas Loman, Jennifer T Loud, Siranoush Manoukian, Milena Mariani, Sylvie Mazoyer, Lesley McGuffog, Hanne E J Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Jan C Oosterwijk, Ana Osorio, Laura Papi, Sue Kyung Park, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez Segura, Paolo Peterlongo, Catherine M Phelan, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Matti A Rookus, Rita Katharina Schmutzler, Nicolas Sevenet, Payal D Shah, Christian F Singer, Thomas P Slavin, Katie Snape, Johanna Sokolowska, Ida Marie Heeholm Sønderstrup, Melissa Southey, Amanda B Spurdle, Zsofia Stadler, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Yen Tan, Muy-Kheng Tea, Manuel R Teixeira, Alex Teulé, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Nadine Tung, Ans M W van den Ouweland, Rob B van der Luijt, Klaartje van Engelen, Elizabeth J van Rensburg, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Juul T Wijnen, Timothy Rebbeck, Georgia Chenevix-Trench, Kenneth Offit, Fergus J Couch, Silje Nord, Douglas F Easton, Antonis C Antoniou, Jacques Simard
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2...
October 28, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27729323/serum-free-light-chains-should-be-the-target-of-response-evaluation-in-light-chain-multiple-myeloma-rather-than-urines
#4
Thomas Dejoie, Jill Corre, Helene Caillon, Cyrille Hulin, Aurore Perrot, Denis Caillot, Eileen Boyle, Marie-Lorraine Chretien, Jean Fontan, Karim Belhadj, Sabine Brechignac, Olivier Decaux, Laurent Voillat, Philippe Rodon, Olivier Fitoussi, Carla Araujo, Lotfi Benboubker, Charlotte Fontan, Mourad Tiab, Pascal Godmer, Odile Luycx, Olivier Allangba, Jean-Michel Pignon, Jean-Gabriel Fuzibet, Laurence Legros, Anne-Marie Stoppa, Mamoun Dib, Brigitte Pegourie, Frederique Orsini-Piocelle, Lionel Karlin, Bertrand Arnulf, Murielle Roussel, Laurent Garderet, Mohamad Mohty, Nathalie Meuleman, Chantal Doyen, Pascal Lenain, Margaret Macro, Xavier Leleu, Thierry Facon, Philippe Moreau, Michel Attal, Herve Avet-Loiseau
Guidelines for monitoring multiple myeloma patients expressing light chains only (light chain multiple myeloma; LCMM) rely on measurements of the monoclonal protein in urine. Alternatively serum free light chain (sFLC) measurements have better sensitivity over urine methods, however, demonstration that improved sensitivity provides any clinical benefit is lacking. Here we compared the performance of serum and urine measurements in 113 (72κ, 41λ) newly diagnosed LCMM patients enrolled onto the IFM-2009 trial...
October 11, 2016: Blood
https://www.readbyqxmd.com/read/27728955/laparoscopic-stapled-sublay-repair-with-self-gripping-mesh-a-simplified-technique-for-minimally-invasive-extraperitoneal-ventral-hernia-repair
#5
Alexandra M Moore, Lisa N Anderson, David C Chen
INTRODUCTION: Minimally invasive laparoscopic and robotic techniques for ventral hernia repair have evolved to achieve the benefits and minimize the limitations of both the open Rives-Stoppa sublay mesh repair and laparoscopic intraperitoneal onlay mesh (IPOM) repair. By combining the principles of a retromuscular repair with the benefits of a minimally invasive approach, these techniques attempt to decrease recurrence, increase functionality, exclude mesh from the viscera, limit infection and wound complications, and minimize pain...
October 6, 2016: Surgical Technology International
https://www.readbyqxmd.com/read/27696847/study-of-the-vibrational-spectra-and-absorption-cross-sections-of-1-chloro-1-fluoroethene-by-a-joint-experimental-and-ab-initio-approach
#6
Andrea Pietropolli Charmet, Paolo Stoppa, Nicola Tasinato, Santi Giorgianni, Alberto Gambi
The gas-phase infrared spectra of 1-chloro-1-fluoroethene (geminal chloro-fluoroethene, ClFC=CH2, 1,1-C2H2ClF) were recorded at medium resolution in the range 400 - 6400 cm(-1) and the vibrational analysis led to revise the previous assignments for the ν11 (A'' symmetry), ν2 (A' symmetry) and ν1 (A' symmetry) bands. Besides the fundamentals, all the most relevant spectral features were interpreted in terms of overtone and combination bands, thus obtaining an accurate description of the vibrational structure of ClFC=CH2...
October 3, 2016: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/27672464/traumatic-testicular-dislocation-associated-with-lateral-compression-pelvic-ring-injury-and-t-shaped-acetabulum-fracture
#7
Daniel Howard Wiznia, Mike Wang, Chang Yeon-Kim, Paul Tomaszewski, Michael P Leslie
We report a case of a unilateral testicular dislocation to the superficial inguinal region associated with a lateral compression type pelvic ring injury (OTA classification 61-C3.3a2, b2, c3) and left T-shaped acetabulum fracture (OTA classification 62-B2) in a 44-year-old male who was in a motorcycle accident. The testicular dislocation was noted during the emergency department primary survey, and its location and viability were verified with ultrasound. The testicle was isolated during surgical stabilization of the left acetabulum through a Pfannenstiel incision and modified-Stoppa approach and returned through the inguinal canal to the scrotum...
2016: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/27633797/brca-share-a-collection-of-clinical-brca-gene-variants
#8
Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S Weymouth, Alecia Willis, Marcia Eisenberg, Charles M Strom
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories...
December 2016: Human Mutation
https://www.readbyqxmd.com/read/27612987/upfront-autologous-stem-cell-transplantation-for-newly-diagnosed-elderly-multiple-myeloma-patients-a-prospective-multicenter-study
#9
Laurent Garderet, Eric Beohou, Denis Caillot, Anne Marie Stoppa, Cyrille Touzeau, Marie Lorraine Chretien, Lionel Karlin, Philippe Moreau, Jean Fontan, Didier Blaise, Emmanuelle Polge, Mor Seny Gueye, Souhila Ikhlef, Zora Marjanovic, Myriam Labopin, Mohamad Mohty
The feasibility and efficacy of high-dose melphalan followed by autologous hematopoietic stem cell transplantation in newly diagnosed elderly patients with multiple myeloma was analyzed prospectively. Fifty-six multiple myeloma patients, aged 65 years or over, from 6 French centers were studied. The induction therapy was bortezomib-based in combination with dexamethasone and either thalidomide, cyclophosphamide or lenalidomide, for 4-6 cycles. Peripheral blood stem cells were collected after high-dose cyclophosphamide plus G-CSF or G-CSF alone, with plerixafor if needed...
November 2016: Haematologica
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#10
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27584820/anterograde-fixation-module-for-posterior-acetabular-column-fracture-computer-assisted-determination-of-optimal-entry-point-angle-and-length-for-screw-insertion
#11
Yongqiang Xu, Chuangxin Lin, Lifeng Zhang, Miaoxiong Lin, Jianqiang Lai, Shenglu Cao, Geng Peng, Kai Feng, Ge Yan, Daozhang Cai, Gang Wang
BACKGROUND The aim of this study was to provide valid data for a plate-screw fixation model for fractured posterior-anterior columns of the acetabulum. MATERIAL AND METHODS Nineteen cadaveric bony hemi-pelvis specimens were obtained and 50 healthy adults were enrolled. The modified Stoppa approach and computed tomography (CT) imaging were used to collect the measured parameter data of the module. RESULTS The measured parameter data were as follows: OP, 0.96±0.32 cm in females and 0.92±0.16 cm in males (P>0...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27583105/stoppa-approach-for-anterior-plate-fixation-in-unstable-pelvic-ring-injury
#12
Hyoung-Keun Oh, Suk Kyu Choo, Jung-Jae Kim, Mark Lee
BACKGROUND: The Stoppa (intrapelvic) approach has been introduced for the treatment of pelvic-acetabular fractures; it allows easy exposure of the pelvic brim, where the bone quality is optimal for screw fixation. The purpose of our study was to investigate the surgical outcomes of unstable pelvic ring injuries treated using the Stoppa approach for stable anterior ring fixation. METHODS: We analyzed 22 cases of unstable pelvic ring injury treated with plate fixation of the anterior ring with the Stoppa approach...
September 2016: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/27514841/the-biological-effects-and-clinical-implications-of-brca-mutations-where-do-we-go-from-here
#13
REVIEW
Dominique Stoppa-Lyonnet
BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination (HR). Cells that lack either BRCA1 or BRCA2 repair these lesions by alternative, more error-prone mechanisms. Individuals carrying germline pathogenic mutations in BRCA1 or BRCA2 are at highly elevated risk of developing breast and/or ovarian cancer. Genetic testing for germline pathogenic mutations in BRCA1 and BRCA2 has proved to be a valuable tool for determining eligibility for cancer screening and prevention programmes...
September 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27500492/biallelic-inactivation-of-rev7-is-associated-with-fanconi-anemia
#14
Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d'Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D D'Andrea, Jean Soulier
Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalities, chromosome instability, progressive bone marrow failure (BMF), and a strong predisposition to cancer. Twenty FA genes have been identified, and the FANC proteins they encode cooperate in a common pathway that regulates DNA crosslink repair and replication fork stability. We identified a child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis (TLS) gene REV7 (also known as MAD2L2), which encodes the mutant REV7 protein REV7-V85E...
September 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27492584/safety-of-modified-stoppa-approach-for-ganz-periacetabular-osteotomy-a-preliminary-cadaveric-study
#15
Mehmet Elmadağ, Gökçer Uzer, Fatih Yıldız, Hasan H Ceylan, Mehmet A Acar
OBJECTIVE: The aim of this cadaveric study was to investigate the efficacy of the modified Stoppa approach in Ganz periacetabular osteotomy (PAO). METHODS: The Ganz PAO was performed on 10 hemipelvises with normal hips, from 5 cadavers using the modified Stoppa approach through the Pfannenstiel incision. All of the osteotomies were performed under fluoroscopic control and direct visualizing the osteotomy site from the same incision. After the osteotomy, the acetabulum was medialized and redirected anterolaterally, and fixed with 2 screws...
August 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27463617/fine-scale-mapping-at-9p22-2-identifies-candidate-causal-variants-that-modify-ovarian-cancer-risk-in-brca1-and-brca2-mutation-carriers
#16
Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen B M Claes, David E Cohn, Jackie Cook, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Antoine de Pauw, Capucine Delnatte, Orland Diez, Susan M Domchek, Martine Dumont, Katarzyna Durda, Bernd Dworniczak, Douglas F Easton, Diana Eccles, Christina Edwinsdotter Ardnor, Ros Eeles, Bent Ejlertsen, Steve Ellis, D Gareth Evans, Lidia Feliubadalo, Florentia Fostira, William D Foulkes, Eitan Friedman, Debra Frost, Pragna Gaddam, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Sophie Giraud, Andrew K Godwin, David E Goldgar, Christopher R Hake, Thomas V O Hansen, Sue Healey, Shirley Hodgson, Frans B L Hogervorst, Claude Houdayer, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Lauren Jacobs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Joseph Vijai, Beth Y Karlan, Karin Kast, KConFab Investigators, Sofia Khan, Ava Kwong, Yael Laitman, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jan Lubinski, Phuong L Mai, Siranoush Manoukian, Sylvie Mazoyer, Alfons Meindl, Arjen R Mensenkamp, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Sue Kyung Park, Ylva Paulsson-Karlsson, Inge Sokilde Pedersen, Bernard Peissel, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Marion Piedmonte, Bruce Poppe, Miquel Angel Pujana, Paolo Radice, Gad Rennert, Gustavo C Rodriguez, Matti A Rookus, Eric A Ross, Rita Katharina Schmutzler, Jacques Simard, Christian F Singer, Thomas P Slavin, Penny Soucy, Melissa Southey, Doris Steinemann, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Athanassios Vratimos, Jeffrey N Weitzel, Lesley McGuffog, Judy Kirk, Amanda Ewart Toland, Ute Hamann, Noralane Lindor, Susan J Ramus, Mark H Greene, Fergus J Couch, Kenneth Offit, Paul D P Pharoah, Georgia Chenevix-Trench, Antonis C Antoniou
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework...
2016: PloS One
https://www.readbyqxmd.com/read/27459855/identification-of-independent-association-signals-and-putative-functional-variants-for-breast-cancer-risk-through-fine-scale-mapping-of-the-12p11-locus
#17
Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Kyriaki Michailidou, Maya Ghoussaini, Siddhartha Kar, Adam Freeman, John L Hopper, Roger L Milne, Manjeet K Bolla, Qin Wang, Joe Dennis, Simona Agata, Shahana Ahmed, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Adalgeir Arason, Volker Arndt, Banu K Arun, Brita Arver, Francois Bacot, Daniel Barrowdale, Caroline Baynes, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Carl Blomqvist, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Jane Carpenter, Jenny Chang-Claude, Ji-Yeob Choi, Kathleen B M Claes, Christine Clarke, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Miguel de la Hoya, Kim De Leeneer, Peter Devilee, Orland Diez, Susan M Domchek, Michele Doody, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Martine Dumont, Miriam Dwek, Bernd Dworniczak, Kathleen Egan, Ursula Eilber, Zakaria Einbeigi, Bent Ejlertsen, Steve Ellis, Debra Frost, Fiona Lalloo, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Michael Friedlander, Eitan Friedman, Gaetana Gambino, Yu-Tang Gao, Judy Garber, Montserrat García-Closas, Andrea Gehrig, Francesca Damiola, Fabienne Lesueur, Sylvie Mazoyer, Dominique Stoppa-Lyonnet, Graham G Giles, Andrew K Godwin, David E Goldgar, Anna González-Neira, Mark H Greene, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Steven Hart, Jaana M Hartikainen, Mikael Hartman, Norhashimah Hassan, Sue Healey, Frans B L Hogervorst, Senno Verhoef, Carolyn B Hendricks, Peter Hillemanns, Antoinette Hollestelle, Peter J Hulick, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Charles Joly Beauparlant, Michael Jones, Maria Kabisch, Daehee Kang, Beth Y Karlan, Saila Kauppila, Michael J Kerin, Sofia Khan, Elza Khusnutdinova, Julia A Knight, Irene Konstantopoulou, Peter Kraft, Ava Kwong, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Loic Le Marchand, Chuen Neng Lee, Min Hyuk Lee, Jenny Lester, Jingmei Li, Annelie Liljegren, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Phuong L Mai, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Frederik Marme, Keitaro Matsuo, Lesley McGuffog, Alfons Meindl, Florence Menegaux, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Polly A Newcomb, Silje Nord, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Curtis Olswold, Ana Osorio, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Stephanie Peeters, Bernard Peissel, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Nadege Presneau, Paolo Radice, Nazneen Rahman, Susan J Ramus, Muhammad Usman Rashid, Gad Rennert, Kerstin Rhiem, Anja Rudolph, Ritu Salani, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Minouk J Schoemaker, Peter Schürmann, Caroline Seynaeve, Chen-Yang Shen, Martha J Shrubsole, Xiao-Ou Shu, Alice Sigurdson, Christian F Singer, Susan Slager, Penny Soucy, Melissa Southey, Doris Steinemann, Anthony Swerdlow, Csilla I Szabo, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Mary Beth Terry, Daniel C Tessier, Alex Teulé, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Nadine Tung, Clare Turnbull, Ans M W van den Ouweland, Elizabeth J van Rensburg, David Ven den Berg, Joseph Vijai, Shan Wang-Gohrke, Jeffrey N Weitzel, Alice S Whittemore, Robert Winqvist, Tien Y Wong, Anna H Wu, Drakoulis Yannoukakos, Jyh-Cherng Yu, Paul D P Pharoah, Per Hall, Georgia Chenevix-Trench, Alison M Dunning, Jacques Simard, Fergus J Couch, Antonis C Antoniou, Douglas F Easton, Wei Zheng
BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac...
June 21, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27423665/implementing-pgd-pgd-a-in-ivf-clinics-considerations-for-the-best-laboratory-approach-and-management
#18
REVIEW
Antonio Capalbo, Valeria Romanelli, Danilo Cimadomo, Laura Girardi, Marta Stoppa, Lisa Dovere, Domenico Dell'Edera, Filippo Maria Ubaldi, Laura Rienzi
For an IVF clinic that wishes to implement preimplantation genetic diagnosis for monogenic diseases (PGD) and for aneuploidy testing (PGD-A), a global improvement is required through all the steps of an IVF treatment and patient care. At present, CCS (Comprehensive Chromosome Screening)-based trophectoderm (TE) biopsy has been demonstrated as a safe, accurate and reproducible approach to conduct PGD-A and possibly also PGD from the same biopsy. Key challenges in PGD/PGD-A implementation cover genetic and reproductive counselling, selection of the most efficient approach for blastocyst biopsy as well as of the best performing molecular technique to conduct CCS and monogenic disease analysis...
October 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27374647/ataxia-telangiectasia-in-the-south-of-tunisia-a-study-of-11-cases
#19
Lamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, Catherine Dubois D'enghien, Thouraya Kamoun, Mohamed Ridha Barbouch, Mongia Hachicha
BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. AIM: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features...
August 2015: La Tunisie Médicale
https://www.readbyqxmd.com/read/27372028/stoppa-approach-for-intrapelvic-damage-control-and-reconstruction-of-complex-acetabular-defects-with-intra-pelvic-socket-migration-a-case-report
#20
Antonio Murcia-Asensio, Francisco Ferrero-Manzanal, Raquel Lax-Pérez, Mariano Fernández-Fairén
INTRODUCTION: Failed hip arthroplasty with intrapelvic acetabular migration can be challenging due to the potential damage of intrapelvic structures. PRESENTATION OF THE CASE: We present a case of a 75 year-old lady with failed hip arthroplasty with loosening of implants and intra-pelvic migration of the cup, antiprotrusio cage mesh, screws and plate. A modified Stoppa approach was performed, a part of the migrated elements were safely removed, the intrapelvic structures were controlled, and the bone defect was reconstructed through the Stoppa approach combined with the lateral window of ilioinguinal approach by means of bone struts and metallic plates, which is a novel technique...
2016: International Journal of Surgery Case Reports
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