Literature DB >> 11836363

Unique de novo mutation of BRCA2 in a woman with early onset breast cancer.

M Robson, L Scheuer, K Nafa, N Ellis, K Offit.   

Abstract

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Year:  2002        PMID： 11836363      PMCID： PMC1735025          DOI： 10.1136/jmg.39.2.126

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


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  11 in total

1.  Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Authors:  Emma Edwards; Catharina Yearwood; Julie Sillibourne; Diana Baralle; Diana Eccles
Journal:  Fam Cancer       Date:  2009-07-21       Impact factor: 2.375

2.  Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.

Authors:  L Golmard; C Delnatte; A Laugé; V Moncoutier; C Lefol; K Abidallah; H Tenreiro; F Copigny; M Giraudeau; C Guy; C Barbaroux; G Amorim; A Briaux; V Guibert; J Tarabeux; S Caputo; A Collet; P Gesta; O Ingster; M-H Stern; E Rouleau; A de Pauw; M Gauthier-Villars; B Buecher; S Bézieau; D Stoppa-Lyonnet; C Houdayer
Journal:  Oncogene       Date:  2015-06-01       Impact factor: 9.867

3.  Routine TP53 testing for breast cancer under age 30: ready for prime time?

Authors:  Jeanna M McCuaig; Susan R Armel; Ana Novokmet; Ophira M Ginsburg; Rochelle Demsky; Steven A Narod; David Malkin
Journal:  Fam Cancer       Date:  2012-12       Impact factor: 2.375

4.  A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.

Authors:  Ava Kwong; Enders K O Ng; Edmund Y H Tang; Chris L P Wong; Fian B F Law; Candy P H Leung; Aaron Chan; M T Cheung; M Y To; Edmond S K Ma; Dee W West; James M Ford
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.375

5.  A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Authors:  Zaida Garcia-Casado; Ignacio Romero; Antonio Fernandez-Serra; Luis Rubio; Francisco Llopis; Ana Garcia; Pilar Llombart; Jose A Lopez-Guerrero
Journal:  BMC Med Genet       Date:  2011-10-11       Impact factor: 2.103

6.  Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

Authors:  Thomas V O Hansen; Marie Luise Bisgaard; Lars Jønson; Anders Albrechtsen; Bettina Filtenborg-Barnkob; Hans Eiberg; Bent Ejlertsen; Finn C Nielsen
Journal:  BMC Med Genet       Date:  2008-07-02       Impact factor: 2.103

7.  Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.

Authors:  E Friedman; N Efrat; L Soussan-Gutman; A Dvir; Y Kaplan; T Ekstein; K Nykamp; M Powers; M Rabideau; J Sorenson; S Topper
Journal:  Br J Cancer       Date:  2015-01-29       Impact factor: 7.640

8.  Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.

Authors:  Jacopo Azzollini; Chiara Pesenti; Luca Ferrari; Laura Fontana; Mariarosaria Calvello; Bernard Peissel; Giorgio Portera; Silvia Tabano; Maria Luisa Carcangiu; Paola Riva; Monica Miozzo; Siranoush Manoukian
Journal:  PLoS One       Date:  2017-02-15       Impact factor: 3.240

9.  Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.

Authors:  Kenneth Offit; Kaitlyn A Tkachuk; Zsofia K Stadler; Michael F Walsh; Hector Diaz-Zabala; Jeffrey D Levin; Zoe Steinsnyder; Vignesh Ravichandran; Ravi N Sharaf; Melissa K Frey; Steven M Lipkin; Mark E Robson; Jada G Hamilton; Joseph Vijai; Semanti Mukherjee
Journal:  J Clin Oncol       Date:  2020-01-10       Impact factor: 50.717

10.  Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.

Authors:  Ava Kwong; Enders K O Ng; Fian B F Law; H N Wong; Anna Wa; Chris L P Wong; Allison W Kurian; Dee W West; James M Ford; Edmond S K Ma
Journal:  Breast Cancer Res Treat       Date:  2012-10-26       Impact factor: 4.872
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