Literature DB >> 32152249

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

Alvaro N Monteiro1, Peter Bouwman2, Arne N Kousholt2, Diana M Eccles3, Gael A Millot4, Jean-Yves Masson5, Marjanka K Schmidt2, Shyam K Sharan6, Ralph Scully7, Lisa Wiesmüller8, Fergus Couch9, Maaike P G Vreeswijk10.   

Abstract

Entities:  

Keywords:  cancer: breast; clinical genetics; genetic screening/counselling; getting research into practice; molecular genetics

Mesh：

Substances：

Year:  2020        PMID： 32152249      PMCID： PMC7390672          DOI： 10.1136/jmedgenet-2019-106368

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  75 in total

1.  Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Authors:  Gaël A Millot; Adeline Berger; Vincent Lejour; Jean-Baptiste Boulé; Claude Bobo; Christophe Cullin; Judith Lopes; Dominique Stoppa-Lyonnet; Alain Nicolas
Journal:  Hum Mutat       Date:  2011-10-20       Impact factor: 4.878

2.  Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.

Authors:  Allison W Kurian; Gail D Gong; Esther M John; David A Johnston; Anna Felberg; Dee W West; Alexander Miron; Irene L Andrulis; John L Hopper; Julia A Knight; Hilmi Ozcelik; Gillian S Dite; Carmel Apicella; Melissa C Southey; Alice S Whittemore
Journal:  J Clin Oncol       Date:  2011-10-31       Impact factor: 44.544

3.  Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

Authors:  Marlen Keimling; Meta Volcic; Andreea Csernok; Britta Wieland; Thilo Dörk; Lisa Wiesmüller
Journal:  FASEB J       Date:  2011-07-21       Impact factor: 5.191

4.  BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1.

Authors:  Rinske Drost; Kiranjit K Dhillon; Hanneke van der Gulden; Ingrid van der Heijden; Inger Brandsma; Cristina Cruz; Dafni Chondronasiou; Marta Castroviejo-Bermejo; Ute Boon; Eva Schut; Eline van der Burg; Ellen Wientjens; Mark Pieterse; Christiaan Klijn; Sjoerd Klarenbeek; Fabricio Loayza-Puch; Ran Elkon; Liesbeth van Deemter; Sven Rottenberg; Marieke van de Ven; Dick H W Dekkers; Jeroen A A Demmers; Dik C van Gent; Reuven Agami; Judith Balmaña; Violeta Serra; Toshiyasu Taniguchi; Peter Bouwman; Jos Jonkers
Journal:  J Clin Invest       Date:  2016-07-25       Impact factor: 14.808

5.  BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

Authors:  Amanda B Spurdle; Phillip J Whiley; Bryony Thompson; Bingjian Feng; Sue Healey; Melissa A Brown; Christopher Pettigrew; Christi J Van Asperen; Margreet G E M Ausems; Anna A Kattentidt-Mouravieva; Ans M W van den Ouweland; Annika Lindblom; Maritta H Pigg; Rita K Schmutzler; Christoph Engel; Alfons Meindl; Sandrine Caputo; Olga M Sinilnikova; Rosette Lidereau; Fergus J Couch; Lucia Guidugli; Thomas van Overeem Hansen; Mads Thomassen; Diana M Eccles; Kathy Tucker; Javier Benitez; Susan M Domchek; Amanda E Toland; Elizabeth J Van Rensburg; Barbara Wappenschmidt; Åke Borg; Maaike P G Vreeswijk; David E Goldgar
Journal:  J Med Genet       Date:  2012-08       Impact factor: 6.318

Review 6.  Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Authors:  Philippe M Campeau; William D Foulkes; Marc D Tischkowitz
Journal:  Hum Genet       Date:  2008-06-25       Impact factor: 4.132

7.  A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Authors:  Lucia Guidugli; Vernon S Pankratz; Namit Singh; James Thompson; Catherine A Erding; Christoph Engel; Rita Schmutzler; Susan Domchek; Katherine Nathanson; Paolo Radice; Christian Singer; Patricia N Tonin; Noralane M Lindor; David E Goldgar; Fergus J Couch
Journal:  Cancer Res       Date:  2012-10-29       Impact factor: 12.701

8.  Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

Authors:  Joanna R Morris; Laurent Pangon; Chris Boutell; Toyomasa Katagiri; Nicholas H Keep; Ellen Solomon
Journal:  Hum Mol Genet       Date:  2006-01-10       Impact factor: 6.150

9.  BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance.

Authors:  Rinske Drost; Peter Bouwman; Sven Rottenberg; Ute Boon; Eva Schut; Sjoerd Klarenbeek; Christiaan Klijn; Ingrid van der Heijden; Hanneke van der Gulden; Ellen Wientjens; Mark Pieterse; Aurelie Catteau; Pete Green; Ellen Solomon; Joanna R Morris; Jos Jonkers
Journal:  Cancer Cell       Date:  2011-12-13       Impact factor: 31.743

10.  Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Authors:  Laura Caleca; Irene Catucci; Gisella Figlioli; Loris De Cecco; Tina Pesaran; Maggie Ward; Sara Volorio; Anna Falanga; Marina Marchetti; Maria Iascone; Carlo Tondini; Alberto Zambelli; Jacopo Azzollini; Siranoush Manoukian; Paolo Radice; Paolo Peterlongo
Journal:  Front Oncol       Date:  2018-10-25       Impact factor: 6.244
View more
  8 in total

1.  Routine Molecular Pathology Diagnostics in Precision Oncology.

Authors:  Carina Wenzel; Sylvia Herold; Martin Wermke; Daniela E Aust; Gustavo B Baretton
Journal:  Dtsch Arztebl Int       Date:  2021-04-16       Impact factor: 5.594

2.  Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Authors:  Alison M Elliott; Shelin Adam; Christèle du Souich; Anna Lehman; Tanya N Nelson; Clara van Karnebeek; Emily Alderman; Linlea Armstrong; Gudrun Aubertin; Katherine Blood; Cyrus Boelman; Cornelius Boerkoel; Karla Bretherick; Lindsay Brown; Chieko Chijiwa; Lorne Clarke; Madeline Couse; Susan Creighton; Abby Watts-Dickens; William T Gibson; Harinder Gill; Maja Tarailo-Graovac; Sara Hamilton; Harindar Heran; Gabriella Horvath; Lijia Huang; Gurdip K Hulait; David Koehn; Hyun Kyung Lee; Suzanne Lewis; Elena Lopez; Kristal Louie; Karen Niederhoffer; Allison Matthews; Kirsten Meagher; Junran J Peng; Millan S Patel; Simone Race; Phillip Richmond; Rosemarie Rupps; Ramona Salvarinova; Kimberly Seath; Kathryn Selby; Michelle Steinraths; Sylvia Stockler; Kaoru Tang; Christine Tyson; Margot van Allen; Wyeth Wasserman; Jill Mwenifumbo; Jan M Friedman
Journal:  HGG Adv       Date:  2022-04-18

3.  ATR/ATM-Mediated Phosphorylation of BRCA1 T1394 Promotes Homologous Recombinational Repair and G2-M Checkpoint Maintenance.

Authors:  Tzeh K Foo; Gabriele Vincelli; Eric Huselid; Joonyoung Her; Haiyan Zheng; Srilatha Simhadri; Meiling Wang; Yanying Huo; Tao Li; Xiaochun Yu; Hong Li; Weixing Zhao; Samuel F Bunting; Bing Xia
Journal:  Cancer Res       Date:  2021-07-23       Impact factor: 12.701

4.  Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

Authors:  Francesca Bellè; Alberto Mercatanti; Samuele Lodovichi; Caterina Congregati; Chiara Guglielmi; Mariella Tancredi; Maria Adelaide Caligo; Tiziana Cervelli; Alvaro Galli
Journal:  Int J Mol Sci       Date:  2022-04-06       Impact factor: 5.923

5.  Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Authors:  Hikmat Abdel-Razeq; Faris Tamimi; Lama Abujamous; Rashid Abdel-Razeq; Mahmoud Abunasser; Sara Edaily; Hazem Abdulelah; Razan Abu Khashabeh; Rayan Bater
Journal:  Front Oncol       Date:  2022-03-25       Impact factor: 6.244

6.  Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Authors:  Thales C Nepomuceno; Ana P P Dos Santos; Vanessa C Fernandes; Anna B R Elias; Thiago T Gomes; Guilherme Suarez-Kurtz; Edwin S Iversen; Fergus J Couch; Alvaro N A Monteiro; Marcelo A Carvalho
Journal:  Sci Rep       Date:  2022-09-28       Impact factor: 4.996

Review 7.  Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Authors:  Rick A C M Boonen; Maaike P G Vreeswijk; Haico van Attikum
Journal:  Front Mol Biosci       Date:  2020-09-16

Review 8.  Translating Embryogenesis to Generate Organoids: Novel Approaches to Personalized Medicine.

Authors:  Sounak Sahu; Shyam K Sharan
Journal:  iScience       Date:  2020-08-21
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.