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https://www.readbyqxmd.com/read/29446198/mutational-spectrum-in-a-worldwide-study-of-29-700-families-with-brca1-or-brca2-mutations
#1
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, T L Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, Lesley McGuffog, Michael T Parsons, Goska Leslie, Cora M Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M Blanco, Kathleen R Blazer, Marinus J Blok, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Trinidad Caldes, Almuth Caliebe, Maria A Caligo, Ian Campbell, Sandrine Caputo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, J Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M Domchek, Cecilia M Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C R Galvão, Patricia A Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B L Hogervorst, Ellen Honisch, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Katarzyna Kaczmarek, Beth Y Karlan, Karin Kast, KConFab Investigators, Sung-Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M Lindor, Michel Longy, Jennifer T Loud, Karen H Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E J Meijers-Heijboer, Alfons Meindl, Arjen R Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L Nussbaum, Kenneth Offit, Anna Öfverholm, Kai-Ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto MSc, Nina Peruga MSc, Paolo Peterlongo, Esther Pohl, Nisha Pradhan Ba, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C Rodriguez, Mark T Rogers, Vilius Rudaitis, Ane Y Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D Shah, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Thomas P Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Yen Y Tan, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H Trainer, Nadine Tung, Christi J van Asperen, Annemieke H van der Hout, Lizet E van der Kolk, Rob B van der Luijt, Mattias Van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H F Weber, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K Zorn, Christina G Hutten Selkirk, Peter J Hulick, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Katherine L Nathanson
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on 6 continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database...
February 15, 2018: Human Mutation
https://www.readbyqxmd.com/read/29372364/reproductive-decision-support-preferences-and-needs-of-couples-at-risk-for-hereditary-cancer-and-clinical-geneticists
#2
Kelly Reumkens, A J G van Oudheusden, J J G Gietel-Habets, M H E Tummers, C E M de Die-Smulders, L A D M van Osch
For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling...
January 25, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29367707/cost-of-cancer-diagnosis-using-next-generation-sequencing-targeted-gene-panels-in-routine-practice-a-nationwide-french-study
#3
Patricia Marino, Rajae Touzani, Lionel Perrier, Etienne Rouleau, Dede Sika Kossi, Zou Zhaomin, Nathanaël Charrier, Nicolas Goardon, Claude Preudhomme, Isabelle Durand-Zaleski, Isabelle Borget, Sandrine Baffert
It is currently unclear if next-generation sequencing (NGS) technologies can be implemented in the diagnosis setting at an affordable cost. The aim of this study was to measure the total cost of performing NGS in clinical practice in France, in both germline and somatic cancer genetics.The study was performed on 15 French representative cancer molecular genetics laboratories performing NGS panels' tests. The production cost was estimated using a micro-costing method with resources consumed collected in situ in each laboratory from a healthcare provider perspective...
January 24, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29348314/oncogenetics-and-mrd-in-pediatric-t-all
#4
(no author information available yet)
No abstract text is available yet for this article.
January 18, 2018: Blood
https://www.readbyqxmd.com/read/29170016/-sporadic-kidney-cancer-of-young-subjects-study-of-the-clinical-and-pathological-features-of-a-bicentric-cohort
#5
J Cohen, M O Timsit, D Zerbib, M Rouprêt, V Verkarre, E Comperat, A Mejean, M O Bitker
INTRODUCTION: The epidemiology of kidney cancer is evolving with a net increase in the incidence of renal tumors, globally, and in young people in particular. OBJECTIVE: To evaluate the incidence and clinical and pathological characteristics of sporadic renal tumors in young subjects and their risk factors. MATERIAL AND METHODS: A retrospective study aimed at collecting clinical, epidemiological and anatomopathological information from the 118 patients aged 18 to 40 treated for a sporadic kidney tumor in two Parisian university hospital centers between 2003 and 2013...
November 20, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/29164969/accuracy-of-self-reported-family-history-of-cancer-mutation-status-and-tumor-characteristics-in-patients-with-early-onset-breast-cancer
#6
Annelie Augustinsson, Carolina Ellberg, Ulf Kristoffersson, Åke Borg, Håkan Olsson
BACKGROUND: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. MATERIAL AND METHODS: Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden...
November 22, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29055968/identification-of-hereditary-cancer-in-the-general-population-development-and-validation-of-a-screening-questionnaire-for-obtaining-the-family-history-of-cancer
#7
Natalia Campacci, Juliana O de Lima, André L Carvalho, Rodrigo D Michelli, Rafael Haikel, Edmundo Mauad, Danilo V Viana, Matias E Melendez, Fabiana de L Vazquez, Cleyton Zanardo, Rui M Reis, Benedito M Rossi, Edenir I Palmero
One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary screening questionnaire (PSQ) was developed to identify families at-risk for HCPS. The PSQ was validated using discrimination measures, and the reproducibility was estimated through kappa coefficient...
October 21, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/29051182/oncogenetic-mutations-combined-with-mrd-improve-outcome-prediction-in-pediatric-t-cell-acute-lymphoblastic-leukemia
#8
Arnaud Petit, Amélie Trinquand, Sylvie Chevret, Paola Ballerini, Jean-Michel Cayuela, Nathalie Grardel, Aurore Touzart, Benoit Brethon, Hélène Lapillonne, Claudine Schmitt, Sandrine Thouvenin, Gerard Michel, Claude Preudhomme, Jean Soulier, Judith Landman-Parker, Guy Leverger, Elizabeth Macintyre, André Baruchel, Vahid Asnafi
Risk stratification in childhood T-ALL is mainly based on minimal residual disease (MRD) quantification. Whether oncogenetic mutation profiles can improve the discrimination of MRD-defined risk categories was unknown. 220 FRALLE2000T treated patients were tested retrospectively for NOTCH1/FBXW7/RAS and PTEN alterations. Patients with N/F mutation and R/P germline (GL) were defined as oncogenetic low risk (gLoR), while N/F GL and R/P GL or mutation and N/F mutation and R/P mutation were defined as high risk (gHiR)...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/29020660/identification-of-twenty-nine-novel-germline-unclassified-variants-of-brca1-and-brca2-genes-in-1400-italian-individuals
#9
Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris, Ettore Capoluongo
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified...
December 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28978123/iaspp-overexpression-is-associated-with-clinical-outcome-in-spinal-chordoma-and-influences-cellular-proliferation-invasion-and-sensitivity-to-cisplatin-in-vitro
#10
Yunlong Ma, Bin Zhu, Xiaoguang Liu, Zhongjun Liu, Liang Jiang, Feng Wei, Miao Yu, Fengliang Wu, Hua Zhou, Nanfang Xu, Xiao Liu, Lei Yong, Yongqiang Wang, Peng Wang, Chen Liang, Guanping He
The oncogenetic function of inhibitory member of the apoptosis stimulating protein of p53 family (iASPP) in chordoma is unclear and remains to elucidate. The expression of iASPP in chordoma tissues and cells, its correlation to clinicopathological parameters and the effect on the patients' prognosis were evaluated. Cellular proliferation, invasion and cisplatin-response were observed after the iASPP knockdown or overexpression in vitro. Co-Immunoprecipitation assay was used to explore the interaction between iASPP and p53...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28844868/complexity-of-the-wnt-%C3%AE-%C3%A2-catenin-pathway-searching-for-an-activation-model
#11
REVIEW
Giovane G Tortelote, Renata R Reis, Fabio de Almeida Mendes, Jose Garcia Abreu
Wnt signaling refers to a conserved signaling pathway, widely studied due to its roles in cellular communication, cell fate decisions, development and cancer. However, the exact mechanism underlying inhibition of the GSK phosphorylation towards β-catenin and activation of the pathway after biding of Wnt ligand to its cognate receptors at the plasma membrane remains unclear. Wnt target genes are widely spread over several animal phyla. They participate in a plethora of functions during the development of an organism, from axial specification, gastrulation and organogenesis all the way to regeneration and repair in adults...
December 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28828701/inherited-predisposition-to-breast-and-ovarian-cancer-in-non-jewish-populations-in-israel
#12
Jamal Zidan, Alicia Y Zhou, Jeroen van den Akker, Yael Laitman, Hagit Schayek, Julia Schnaider, Eitan Friedman
PURPOSE: The contribution of genetic factors to cancer in non-Jewish populations in Israel is understudied. Yet the early, mostly premenopausal age at breast cancer diagnosis is suggestive of an inherited predisposition. METHODS: High-risk cancer cases of non-Jewish origin who were counseled at the Oncogenetics unit, Sheba Medical Center and the oncology institute at the Ziv medical center from January 1, 2000 to December 31 2016 were eligible. DNA extracted from leukocytes was subjected to massive parallel, next-generation sequencing using the Color Genomics platform...
December 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28782849/diffuse-glioma-rare-homozygous-idh-point-mutation-is-it-an-oncogenetic-mechanism
#13
Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
August 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28764644/variable-selection-for-disease-progression-models-methods-for-oncogenetic-trees-and-application-to-cancer-and-hiv
#14
Katrin Hainke, Sebastian Szugat, Roland Fried, Jörg Rahnenführer
BACKGROUND: Disease progression models are important for understanding the critical steps during the development of diseases. The models are imbedded in a statistical framework to deal with random variations due to biology and the sampling process when observing only a finite population. Conditional probabilities are used to describe dependencies between events that characterise the critical steps in the disease process. Many different model classes have been proposed in the literature, from simple path models to complex Bayesian networks...
August 1, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28762020/conception-and-management-of-a-poorly-understood-spectrum-of-dermatologic-neoplasms-atypical-fibroxanthoma-pleomorphic-dermal-sarcoma-and-undifferentiated-pleomorphic-sarcoma
#15
REVIEW
Teo Soleymani, S Tyler Hollmig
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) tumors share many clinical, etiologic, and histologic features and likely represent components of a tumor spectrum. In dermatologic oncology, differentiating between AFX and PDS is pivotal as tumors with histological features consistent with PDS are more likely to behave in a clinically aggressive manner. Importantly, the term "pleomorphic dermal sarcoma" (PDS) is a more appropriate designation than "undifferentiated pleomorphic sarcoma" (UPS) for describing deeper, more aggressive, histologically high-grade cutaneous tumors that otherwise resemble AFX...
August 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28758101/brca-population-screening-for-predicting-breast-cancer-for-or-against
#16
Giuseppe Lippi, Camilla Mattiuzzi, Martina Montagnana
The pathogenesis of breast cancer, the most frequent female malignancy, entails both genetic and acquired risk factors. Among the various oncogenetic mutations, those involving the BReast Cancer 1 (BRCA1) and BReast Cancer 2 (BRCA2) genes are associated with an extremely high risk of developing breast cancer, with a penetration approximating 70% in women with a positive family history for this malignancy. This important evidence elicits some pragmatic considerations, such as the clinical effectiveness of screening for the most penetrant BRCA mutations in women with or without a positive familial history, but also raises important issues related to the most appropriate clinical management of these patients...
July 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28689638/-oiso-automatic-treatment-of-patients-management-in-oncogenetics
#17
Céline Guien, Aurélie Fabre, Arnaud Lagarde, David Salgado, Catherine Gensollen-Thiriez, Hélène Zattara, Christophe Beroud, Sylviane Olschwang
INTRODUCTION: Oncogenetics is a long-term process, which requires a close relation between patients and medical teams, good familial links allowing lifetime follow-up. Numerous documents are exchanged in between the medical team, which has to frequently interact. We present here a new tool that has been conceived specifically for this management. METHODS: The tool has been developed according to a model-view-controler approach with the relational system PostgreSQL 9...
July 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28625311/cancers-de-l%C3%A2-ovaire-brca-mut%C3%A3-consultation-d%C3%A2-oncog%C3%A3-n%C3%A3-tique-et-prescription-des-inhibiteurs-de-parp
#18
Laurence Gladieff, Dominique Stoppa Lyonnet, Alain Lortholary, Alexandra Leary, Catherine Genestie, Isabelle Ray-Coquard
GENETIC COUNSELING AND PARP INHIBITORS PRESCRIPTION: Upon the availability of the PARP inhibitors in relapsed ovarian carcinoma, the pathways of the oncogenetic counseling were modified. Any research for a constitutional alteration of the BRCA1 and BRCA2 genes must be accompanied by an oncogenetic counseling. BRCA testing is recommended from the diagnosis to every woman with an ovarian or fallopian tube or peritoneum of high grade adenocarcinoma, whatever the age at the diagnosis and her family history. In case of sensitive relapse or potential inclusion in a clinical trial and in the absence of preliminary constitutional research, the oncogenetic counseling is organized according to a fast track pathway and a somatic analysis can be realized in parallel...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28625310/mise-%C3%A3-jour-2016-des-recommandations-pour-la-pratique-clinique-de-nice-saint-paul-de-vence-dans-le-cancer-de-l%C3%A2-ovaire-et-du-col-de-l%C3%A2-ut%C3%A3-rus-%C3%A3-un-stade-avanc%C3%A3
#19
Florence Joly, Denis Querleu, Moise Namer, Eric Pujade-Lauraine
UPDATED 2016 RECOMMENDATIONS FOR THE CLINICAL PRACTICE OF NICE/SAINT-PAUL-DE-VENCE IN OVARIAN CANCER AND ADVANCED CERVICAL CANCER: Since the first edition of the 2012-2013 Clinical Practice Recommendations Nice-Saint-Paul for gynecological cancers, the management of ovarian cancer has become more complex with a better definition of histological subtypes of ovarian cancers, the update of the anatomo-clinical classifications, the evolution of the recommended quality criteria for surgery. In addition, the integration of new medical options, such as PARP inhibitors, requires us to review our management of ovarian cnacer patients (including early systematic oncogenetic research of homologous recombination pathway deficiency)...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28618089/crh-promotes-human-colon-cancer-cell-proliferation-via-il-6-jak2-stat3-signaling-pathway-and-vegf-induced-tumor-angiogenesis
#20
Xianjun Fang, Yali Hong, Li Dai, Yuanyuan Qian, Chao Zhu, Biao Wu, Shengnan Li
Corticotrophin-releasing hormone (CRH) has been demonstrated to participate in various diseases. Our previous study showed that its receptor CRHR1 mediated the development of colitis-associated cancer in mouse model. However, the detailed mechanisms remain unclear. In this study, we explored the oncogenetic role of CRH/CRHR1 signaling in colon cancer cells. Cell proliferation and colony formation assays revealed that CRH contributed to cell proliferation. Moreover, tube formation assay showed that CRH-treated colon cancer cell supernatant significantly promoted tube formation of human umbilical vein endothelial cells (HUVECs)...
November 2017: Molecular Carcinogenesis
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