Literature DB >> 15744030

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

B Leegte1, A H van der Hout, A M Deffenbaugh, M K Bakker, I M Mulder, A ten Berge, E P Leenders, J Wesseling, J de Hullu, N Hoogerbrugge, M J L Ligtenberg, A Ardern-Jones, E Bancroft, A Salmon, J Barwell, R Eeles, J C Oosterwijk.   

Abstract

Entities:  

Mesh：

Year:  2005        PMID： 15744030      PMCID： PMC1736012          DOI： 10.1136/jmg.2004.027243

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


× No keyword cloud information.
  16 in total

1.  Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population.

Authors:  O Lavie; S Narod; F Lejbkowicz; S Dishon; Y Goldberg; O Gemer; G Rennert
Journal:  Ann Oncol       Date:  2010-10-05       Impact factor: 32.976

2.  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

Review 3.  Use of association studies to define genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:  David J Hughes
Journal:  Fam Cancer       Date:  2008-02-19       Impact factor: 2.375

Review 4.  PARP inhibitor treatment in ovarian and breast cancer.

Authors:  Marcie K Weil; Alice P Chen
Journal:  Curr Probl Cancer       Date:  2011 Jan-Feb       Impact factor: 3.187

Review 5.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

6.  The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.

Authors:  Jarbas Maciel de Oliveira; Nuria Bengala Zurro; Antonio Victor Campos Coelho; Marcel Pinheiro Caraciolo; Rodrigo Bertollo de Alexandre; Murilo Castro Cervato; Renata Moldenhauer Minillo; George de Vasconcelos Carvalho Neto; Ivana Grivicich; João Bosco Oliveira
Journal:  Eur J Hum Genet       Date:  2022-05-09       Impact factor: 5.351

7.  Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

Authors:  Ane Y Steffensen; Lars Jønson; Bent Ejlertsen; Anne-Marie Gerdes; Finn C Nielsen; Thomas V O Hansen
Journal:  Fam Cancer       Date:  2010-09       Impact factor: 2.375

8.  Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.

Authors:  Margaret Smith; Susan Fawcett; Emanouil Sigalas; Richard Bell; Sophie Devery; Nikolina Andrieska; Ingrid Winship
Journal:  Fam Cancer       Date:  2007-07-17       Impact factor: 2.375

9.  Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Authors:  Sandrine Caputo; Louisa Benboudjema; Olga Sinilnikova; Etienne Rouleau; Christophe Béroud; Rosette Lidereau
Journal:  Nucleic Acids Res       Date:  2011-12-05       Impact factor: 16.971

10.  Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing.

Authors:  Anna P Sokolenko; Dmitry A Voskresenskiy; Aglaya G Iyevleva; Elena M Bit-Sava; Nadezhda I Gutkina; Maxim S Anisimenko; Nathalia Yu Sherina; Nathalia V Mitiushkina; Yulia M Ulibina; Olga S Yatsuk; Olga A Zaitseva; Evgeny N Suspitsin; Alexandr V Togo; Valery A Pospelov; Sergey P Kovalenko; Vladimir F Semiglazov; Evgeny N Imyanitov
Journal:  Hered Cancer Clin Pract       Date:  2009-01-26       Impact factor: 2.857
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.