Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue – A pilot study

1145P Reliable detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue: A new diagnostic benchmark for somatic BRCA testing

Annals of Oncology ◽

10.1016/j.annonc.2021.08.786 ◽

2021 ◽

Vol 32 ◽

pp. S928

Author(s):

N. Valtcheva ◽

B.D. Nguyen ◽

U. Wagner ◽

S. Freiberger ◽

Z. Varga ◽

...

Keyword(s):

Ffpe Tissue ◽

Genomic Rearrangements ◽

Brca Testing ◽

Brca1 And Brca2 ◽

Reliable Detection

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

BMC Cancer ◽

10.1186/1471-2407-14-645 ◽

2014 ◽

Vol 14 (1) ◽

Cited By ~ 16

Author(s):

Moon-Woo Seong ◽

◽

Sung Im Cho ◽

Kyu Hyung Kim ◽

Il Yong Chung ◽

...

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Familial Breast Cancer ◽

Genomic Rearrangements ◽

Breast Cancer Patients ◽

Brca1 And Brca2 ◽

Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing

Cancer Genetics ◽

10.1016/j.cancergen.2016.11.002 ◽

2017 ◽

Vol 210 ◽

pp. 22-27 ◽

Cited By ~ 10

Author(s):

Aouatef Riahi ◽

Habiba Chabouni-Bouhamed ◽

Maher Kharrat

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

High Risk ◽

Genomic Rearrangements ◽

Brca1 And Brca2 ◽

High Risk Breast

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

Breast Cancer Research and Treatment ◽

10.1007/s10549-010-1111-9 ◽

2010 ◽

Vol 124 (1) ◽

pp. 295-296

Author(s):

Jesús del Valle ◽

Lídia Feliubadaló ◽

Conxi Lázaro

Keyword(s):

Brca1 Mutation ◽

Genomic Rearrangements ◽

Review Of The Literature ◽

Brca1 And Brca2 ◽

Brca1 And Brca2 Genes

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

Breast Cancer Research and Treatment ◽

10.1007/s10549-010-0817-z ◽

2010 ◽

Vol 125 (2) ◽

pp. 325-349 ◽

Cited By ~ 79

Author(s):

Michelle D. Sluiter ◽

Elizabeth J. van Rensburg

Keyword(s):

Brca1 Mutation ◽

Genomic Rearrangements ◽

Review Of The Literature ◽

Brca1 And Brca2 ◽

Brca1 And Brca2 Genes

The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort

Hereditary Cancer in Clinical Practice ◽

10.1186/1897-4287-10-s2-a89 ◽

2012 ◽

Vol 10 (Suppl 2) ◽

pp. A89

Author(s):

S Sawyer ◽

S Boyle ◽

MA Young ◽

S Kovalenko ◽

R Doherty ◽

...

Keyword(s):

Ovarian Cancer ◽

Gene Mutations ◽

Brca2 Gene ◽

Genomic Rearrangements ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Clinical Cohort ◽

Large Genomic Rearrangements of BRCA1 and BRCA2 among Patients Referred for Genetic Analysis in Galicia (NW Spain): Delimitation and Mechanism of Three Novel BRCA1 Rearrangements

PLoS ONE ◽

10.1371/journal.pone.0093306 ◽

2014 ◽

Vol 9 (3) ◽

pp. e93306 ◽

Cited By ~ 9

Author(s):

Laura Fachal ◽

Ana Blanco ◽

Marta Santamariña ◽

Angel Carracedo ◽

Ana Vega

Keyword(s):

Genetic Analysis ◽

Genomic Rearrangements ◽

Nw Spain ◽

Brca1 And Brca2 ◽

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

Breast Cancer Research and Treatment ◽

10.1007/s10549-009-0613-9 ◽

2009 ◽

Vol 122 (3) ◽

pp. 733-743 ◽

Cited By ~ 26

Author(s):

Jesús del Valle ◽

Lídia Feliubadaló ◽

Marga Nadal ◽

Alex Teulé ◽

Rosa Miró ◽

...

Keyword(s):

Genomic Rearrangements ◽

Brca1 And Brca2 ◽

Brca1 And Brca2 Genes ◽

Comprehensive Characterization

Large genomic rearrangements in BRCA1 and BRCA2 genes in the Portuguese population

Annals of Oncology ◽

10.1093/annonc/mdz269.026 ◽

2019 ◽

Vol 30 ◽

pp. v805

Author(s):

J.M. Pinto ◽

S. Santos ◽

S. Fragoso ◽

A. Luis ◽

A.I. Clara ◽

...

Keyword(s):

Genomic Rearrangements ◽

Brca1 And Brca2 ◽

Portuguese Population ◽

Brca1 And Brca2 Genes

Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark

Cancer Genetics and Cytogenetics ◽

10.1016/j.cancergencyto.2005.12.016 ◽

2006 ◽

Vol 168 (2) ◽

pp. 168-171 ◽

Cited By ~ 39

Author(s):

Mads Thomassen ◽

Anne-Marie Gerdes ◽

Dorthe Cruger ◽

Peter K.A. Jensen ◽

Torben A. Kruse

Keyword(s):

Low Frequency ◽

Genomic Rearrangements ◽

Brca1 And Brca2 ◽