Genomic profiling of two pathogenic germline truncating variants of BRCA2 confer different haploinsufficiency phenotype

Observation of the loss of heterozygosity of BRCA2

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000871	Raw data FASTQ files of RNAseq (Stranded mRNA prep Ligation-Illumina on NovaSeq 6000, 100bp paired-end) & WGS (PCR Free Roche KAPA Hyper Prep Library on Illumina Novaseq 6000, 150bp paired-end) for 40 samples corresponding to the matched tumor/normal of 10 patients. Raw data FASTQ files of WGS (PCR Free Roche KAPA Hyper Prep Library on Illumina Novaseq 6000, 150bp paired-end) of the tumor of two additional patients.	Illumina HiSeq 2000 Illumina NovaSeq 6000	22

Publications	Citations
A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription. Minello A, Gomez-Escudero J, Sridhara SC, Martin C, Girard E, Cañas JC, Memari Y, Bustos MR, Galarreta A, Boucherit V, Imyanitov E, Bodvarsdottir SK, Baulande S, Vincent-Salomon A, Servant N, Altmeyer M, Sigurdsson S, Stoppa-Lyonnet D, Nik-Zainal S, Carreira A. Nat Commun 16: 2025 10953	0

Publications

Citations

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription.
Minello A, Gomez-Escudero J, Sridhara SC, Martin C, Girard E, Cañas JC, Memari Y, Bustos MR, Galarreta A, Boucherit V, Imyanitov E, Bodvarsdottir SK, Baulande S, Vincent-Salomon A, Servant N, Altmeyer M, Sigurdsson S, Stoppa-Lyonnet D, Nik-Zainal S, Carreira A. Nat Commun 16: 2025 10953