Literature DB >> 27514838

BRCA to the future: towards best testing practice in the era of personalised healthcare.

Ettore Capoluongo1.   

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Year:  2016        PMID： 27514838      PMCID： PMC5141574          DOI： 10.1038/ejhg.2016.92

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  23 in total

1.  Performance comparison of benchtop high-throughput sequencing platforms.

Authors:  Nicholas J Loman; Raju V Misra; Timothy J Dallman; Chrystala Constantinidou; Saheer E Gharbia; John Wain; Mark J Pallen
Journal:  Nat Biotechnol       Date:  2012-05       Impact factor: 54.908

Review 2.  Next-generation DNA sequencing methods.

Authors:  Elaine R Mardis
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

3.  Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

Authors:  Dorothea Gadzicki; D Gareth Evans; Hilary Harris; Claire Julian-Reynier; Irmgard Nippert; Jörg Schmidtke; Aad Tibben; Christi J van Asperen; Brigitte Schlegelberger
Journal:  J Community Genet       Date:  2011-03-02

4.  Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial.

Authors:  Andrew Tutt; Mark Robson; Judy E Garber; Susan M Domchek; M William Audeh; Jeffrey N Weitzel; Michael Friedlander; Banu Arun; Niklas Loman; Rita K Schmutzler; Andrew Wardley; Gillian Mitchell; Helena Earl; Mark Wickens; James Carmichael
Journal:  Lancet       Date:  2010-07-06       Impact factor: 79.321

5.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

Authors:  Y Miki; J Swensen; D Shattuck-Eidens; P A Futreal; K Harshman; S Tavtigian; Q Liu; C Cochran; L M Bennett; W Ding
Journal:  Science       Date:  1994-10-07       Impact factor: 47.728

6.  Meta-analysis of BRCA1 and BRCA2 penetrance.

Authors:  Sining Chen; Giovanni Parmigiani
Journal:  J Clin Oncol       Date:  2007-04-10       Impact factor: 44.544

7.  Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil- DNA glycosylase.

Authors:  Hongdo Do; Alexander Dobrovic
Journal:  Oncotarget       Date:  2012-05

Review 8.  Functions of BRCA1 and BRCA2 in the biological response to DNA damage.

Authors:  A R Venkitaraman
Journal:  J Cell Sci       Date:  2001-10       Impact factor: 5.285

9.  Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial.

Authors:  Jonathan Ledermann; Philipp Harter; Charlie Gourley; Michael Friedlander; Ignace Vergote; Gordon Rustin; Clare L Scott; Werner Meier; Ronnie Shapira-Frommer; Tamar Safra; Daniela Matei; Anitra Fielding; Stuart Spencer; Brian Dougherty; Maria Orr; Darren Hodgson; J Carl Barrett; Ursula Matulonis
Journal:  Lancet Oncol       Date:  2014-05-31       Impact factor: 41.316

Review 10.  The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability.

Authors:  K Gudmundsdottir; A Ashworth
Journal:  Oncogene       Date:  2006-09-25       Impact factor: 9.867
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  6 in total

1.  High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Authors:  Angelo Minucci; Maria De Bonis; Elisa De Paolis; Leonarda Gentile; Concetta Santonocito; Paola Concolino; Flavio Mignone; Ettore Capoluongo
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

2.  Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.

Authors:  Maria De Bonis; Angelo Minucci; Giovanni Luca Scaglione; Elisa De Paolis; Gianfranco Zannoni; Giovanni Scambia; Ettore Capoluongo
Journal:  Fam Cancer       Date:  2019-01       Impact factor: 2.375

3.  Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.

Authors:  Ettore Capoluongo; Giovanni Scambia; Jean-Marc Nabholtz
Journal:  Oncotarget       Date:  2018-04-13

4.  A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.

Authors:  Giovanni Luca Scaglione; Paola Concolino; Maria De Bonis; Elisa De Paolis; Angelo Minucci; Gabriella Ferrandina; Giovanni Scambia; Ettore Capoluongo
Journal:  Int J Mol Sci       Date:  2018-03-23       Impact factor: 5.923

Review 5.  Replication Fork Remodeling and Therapy Escape in DNA Damage Response-Deficient Cancers.

Authors:  Martin Liptay; Joana S Barbosa; Sven Rottenberg
Journal:  Front Oncol       Date:  2020-05-05       Impact factor: 6.244

6.  Germline BRCA 1-2 status prediction through ovarian ultrasound images radiogenomics: a hypothesis generating study (PROBE study).

Authors:  Camilla Nero; Francesca Ciccarone; Luca Boldrini; Jacopo Lenkowicz; Ida Paris; Ettore Domenico Capoluongo; Antonia Carla Testa; Anna Fagotti; Vincenzo Valentini; Giovanni Scambia
Journal:  Sci Rep       Date:  2020-10-05       Impact factor: 4.379
  6 in total

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