Literature DB >> 10923033

The breast cancer information core: database design, structure, and scope.

C Szabo1, A Masiello, J F Ryan, L C Brody.   

Abstract

The Breast Cancer Information Core (BIC) is an open access, on-line mutation database for breast cancer susceptibility genes. In addition to creating a catalogue of all mutations and polymorphisms in breast cancer susceptibility genes, a principle aim of the BIC is to facilitate the detection and characterization of these genes by providing technical support in the form of mutation detection protocols, primer sequences, and reagent access. Additional information at the site includes a literature review compiled from published studies, links to other internet-based, breast cancer information and research resources, and an interactive discussion forum which enables investigators to post or respond to questions and/or comments on a bulletin board. Hum Mutat 16:123-131, 2000. Published 2000 Wiley-Liss, Inc.

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Year:  2000        PMID： 10923033     DOI： 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  81 in total

1.  Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.

Authors:  P Kozlowski; W J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2001-07-15       Impact factor: 16.971

2.  Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

Authors:  Kelly L Bolton; Georgia Chenevix-Trench; Cindy Goh; Siegal Sadetzki; Susan J Ramus; Beth Y Karlan; Diether Lambrechts; Evelyn Despierre; Daniel Barrowdale; Lesley McGuffog; Sue Healey; Douglas F Easton; Olga Sinilnikova; Javier Benítez; María J García; Susan Neuhausen; Mitchell H Gail; Patricia Hartge; Susan Peock; Debra Frost; D Gareth Evans; Rosalind Eeles; Andrew K Godwin; Mary B Daly; Ava Kwong; Edmond S K Ma; Conxi Lázaro; Ignacio Blanco; Marco Montagna; Emma D'Andrea; Maria Ornella Nicoletto; Sharon E Johnatty; Susanne Krüger Kjær; Allan Jensen; Estrid Høgdall; Ellen L Goode; Brooke L Fridley; Jennifer T Loud; Mark H Greene; Phuong L Mai; Angela Chetrit; Flora Lubin; Galit Hirsh-Yechezkel; Gord Glendon; Irene L Andrulis; Amanda E Toland; Leigha Senter; Martin E Gore; Charlie Gourley; Caroline O Michie; Honglin Song; Jonathan Tyrer; Alice S Whittemore; Valerie McGuire; Weiva Sieh; Ulf Kristoffersson; Håkan Olsson; Åke Borg; Douglas A Levine; Linda Steele; Mary S Beattie; Salina Chan; Robert L Nussbaum; Kirsten B Moysich; Jenny Gross; Ilana Cass; Christine Walsh; Andrew J Li; Ronald Leuchter; Ora Gordon; Montserrat Garcia-Closas; Simon A Gayther; Stephen J Chanock; Antonis C Antoniou; Paul D P Pharoah
Journal:  JAMA       Date:  2012-01-25       Impact factor: 56.272

3.  Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

Authors:  Lise B Ahlborn; Ane Y Steffensen; Lars Jønson; Malene Djursby; Finn C Nielsen; Anne-Marie Gerdes; Thomas V O Hansen
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

4.  A misquoted mutation in exon16 of the BRCA2 gene.

Authors:  Agapi Kataki; Anastasia Derventzi; Ilias Gomatos; Manoussos M Konstadoulakis
Journal:  J Hum Genet       Date:  2006-01-25       Impact factor: 3.172

Review 5.  Functional assays for analysis of variants of uncertain significance in BRCA2.

Authors:  Lucia Guidugli; Aura Carreira; Sandrine M Caputo; Asa Ehlen; Alvaro Galli; Alvaro N A Monteiro; Susan L Neuhausen; Thomas V O Hansen; Fergus J Couch; Maaike P G Vreeswijk
Journal:  Hum Mutat       Date:  2013-12-03       Impact factor: 4.878

6.  Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Authors:  Raphaël Leman; Pascaline Gaildrat; Gérald Le Gac; Chandran Ka; Yann Fichou; Marie-Pierre Audrezet; Virginie Caux-Moncoutier; Sandrine M Caputo; Nadia Boutry-Kryza; Mélanie Léone; Sylvie Mazoyer; Françoise Bonnet-Dorion; Nicolas Sevenet; Marine Guillaud-Bataille; Etienne Rouleau; Brigitte Bressac-de Paillerets; Barbara Wappenschmidt; Maria Rossing; Danielle Muller; Violaine Bourdon; Françoise Revillon; Michael T Parsons; Antoine Rousselin; Grégoire Davy; Gaia Castelain; Laurent Castéra; Joanna Sokolowska; Florence Coulet; Capucine Delnatte; Claude Férec; Amanda B Spurdle; Alexandra Martins; Sophie Krieger; Claude Houdayer
Journal:  Nucleic Acids Res       Date:  2018-09-06       Impact factor: 16.971

7.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

8.  Understanding missense mutations in the BRCA1 gene: an evolutionary approach.

Authors:  Melissa A Fleming; John D Potter; Christina J Ramirez; Gary K Ostrander; Elaine A Ostrander
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-16       Impact factor: 11.205

9.  BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage.

Authors:  Alan R Schoenfeld; Sarah Apgar; Georgia Dolios; Rong Wang; Stuart A Aaronson
Journal:  Mol Cell Biol       Date:  2004-09       Impact factor: 4.272

10.  A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Authors:  Grazia Palomba; Angela Loi; Antonella Uras; Patrizia Fancello; Giovanna Piras; Attilio Gabbas; Antonio Cossu; Mario Budroni; Antonio Contu; Francesco Tanda; Antonio Farris; Sandra Orrù; Carlo Floris; Marina Pisano; Mario Lovicu; Maria Cristina Santona; Gennaro Landriscina; Laura Crisponi; Giuseppe Palmieri; Maria Monne
Journal:  BMC Cancer       Date:  2009-07-20       Impact factor: 4.430
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