scholarly journals Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

2011 ◽  
Vol 32 (6) ◽  
pp. 678-687 ◽  
Author(s):  
Phillip J. Whiley ◽  
Lucia Guidugli ◽  
Logan C. Walker ◽  
Sue Healey ◽  
Bryony A. Thompson ◽  
...  
Keyword(s):  
Sequence Variants ◽  
Brca1 And Brca2 ◽  
Multifactorial Analysis ◽  
Clinically Significant ◽  
Exon Boundary

scholarly journals Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

2010 ◽  
Vol 31 (6) ◽  
pp. E1484-E1505 ◽  
Author(s):  
Logan C. Walker ◽  
Phillip J. Whiley ◽  
Fergus J. Couch ◽  
Daniel J. Farrugia ◽  
Sue Healey ◽  
...  
Keyword(s):  
Sequence Variants ◽  
Brca1 And Brca2

scholarly journals Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations

1998 ◽  
Vol 90 (15) ◽  
pp. 1138-1145 ◽  
Author(s):  
S. R. Lakhani ◽  
J. Jacquemier ◽  
J. P. Sloane ◽  
B. A. Gusterson ◽  
T. J. Anderson ◽  
...  
Keyword(s):  
Breast Cancers ◽  
Brca1 And Brca2 ◽  
Multifactorial Analysis ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

2019 ◽  
Vol 40 (11) ◽  
Author(s):  
Yael Laitman ◽  
Tara M. Friebel ◽  
Drakoulis Yannoukakos ◽  
Florentia Fostira ◽  
Irene Konstantopoulou ◽  
...  
Keyword(s):  
Middle Eastern ◽  
European Countries ◽  
Sequence Variants ◽  
North African ◽  
Brca1 And Brca2

scholarly journals Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

2004 ◽  
Vol 75 (4) ◽  
pp. 535-544 ◽  
Author(s):  
David E. Goldgar ◽  
Douglas F. Easton ◽  
Amie M. Deffenbaugh ◽  
Alvaro N.A. Monteiro ◽  
Sean V. Tavtigian ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Dna Sequence ◽  
Sequence Variants ◽  
Brca1 And Brca2 ◽  
Dna Sequence Variants

scholarly journals Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Elisabeth Jarhelle ◽  
Hilde Monica Frostad Riise Stensland ◽  
Geir Åsmund Myge Hansen ◽  
Siri Skarsfjord ◽  
Christoffer Jonsrud ◽  
...  
Keyword(s):  
Risk Factors ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Sequence Variants ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants

AbstractFamilies with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast and ovarian cancer (HBOC). To identify genetic risk factors for breast and ovarian cancer in a Norwegian HBOC cohort, 101 breast and/or ovarian cancer patients negative for PVs and variants of unknown clinical significance (VUS) in BRCA1/2 were screened for PVs in 94 genes using next-generation sequencing. Sixteen genes were closely scrutinized. Nine different deleterious germline PVs/likely pathogenic variants (LPVs) were identified in seven genes in 12 patients: three in ATM, and one in CHEK2, ERCC5, FANCM, RAD51C, TP53 and WRN. Additionally, 32 different VUSs were identified and these require further characterization. For carriers of PV/LPV in many of these genes, there are no national clinical management programs in Norway. The diversity of genetic risk factors possibly involved in cancer development show the necessity for more knowledge to improve the clinical follow-up of this genetically diverse patient group.

71: The Breast Cancer Genes IARC Database: a tool to improve evaluation of BRCA1 and BRCA2 uncertain sequence variants

2010 ◽  
Vol 97 (1) ◽  
pp. S61
Author(s):  
Vallée Maxime ◽  
Fabienne Lesueur ◽  
Amanda Spurdle ◽  
Frans Hogervorst ◽  
David E Goldgar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Sequence Variants ◽  
Cancer Genes ◽  
Brca1 And Brca2 ◽  
Breast Cancer Genes

scholarly journals BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

2019 ◽  
Vol 40 (10) ◽  
pp. 1781-1796 ◽  
Author(s):  
Tara M. Friebel ◽  
Irene L. Andrulis ◽  
Judith Balmaña ◽  
Amie M. Blanco ◽  
Fergus J. Couch ◽  
...  
Keyword(s):  
Sequence Variants ◽  
African Origin ◽  
Brca1 And Brca2

scholarly journals More About: Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations

1999 ◽  
Vol 91 (16) ◽  
pp. 1421-1422 ◽  
Author(s):  
F. Eisinger ◽  
J. Jacquemier ◽  
E. Charafe-Jauffret ◽  
M.-C. Rio ◽  
D. Birnbaum ◽  
...  
Keyword(s):  
Breast Cancers ◽  
Brca1 And Brca2 ◽  
Multifactorial Analysis ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations
Sign in / Sign up

Export Citation Format

Share Document