Metadata record for the article: Germline RAD51B loss-of-function variants confer susceptibility to hereditary breast and ovarian cancers and result in homologous recombination-deficient tumors
Creators: name: Setton, Jeremy
name: Selenica, Pier
name: Mukherjee, Semanti
name: Shah, Rachna
name: Pecorari, Isabella
name: McMillan, Biko
name: Pei, Isaac X
name: Kemel, Yelena
name: Ceyhan-Birsoy, Ozge
name: Sheehan, Margaret
name: Tkachuk, Kaitlyn
name: Brown, David N.
name: Zhang, Liying
name: Cadoo, Karen
name: Powell, Simon
name: Weigelt, Britta
name: Robson, Mark
name: Riaz, Nadeem
name: Offit, Kenneth
name: S Reis-Filho, Jorge
name: Mandelker, Diana
Publisher: name: figshare
Year: 2021
Subjects: Cancer Genetics
Cancer Cell Biology

description: This
metadata record provides details of the data supporting the claims of the
related article: “Germline RAD51B loss-of-function
variants confer susceptibility to hereditary breast and ovarian cancers and
result in homologous recombination-deficient tumors”.

The
related study aimed to investigate whether loss of function variants in the
RAD51 paralog, RAD51B, had any impact on susceptibility of breast and ovarian
cancer.<br>

 

Type of data:
Clinical characteristics data; Sequence data from the National Cancer Institute
Genomic Data Commons legacy archive; Immunoblotting data; Cell survival data;
Flow cytometry data

Subject of
data: Patients who consented to undergo somatic and germline analysis under an
Institutional Review Board (IRB)-approved protocol at Memorial Sloan Kettering
Cancer Center (MSKCC) and were profiled using the MSK-IMPACT assay.

Sample size: 19
breast and ovarian tumours from 18 patients; Matched normal DNA samples

Population
characteristics: Patients with a RAD51B loss-of-function germline variant

Recruitment:
Constitutively accrued MSKCC patients with a RAD51B loss-of-function germline
variant.

Geographic
location: United States of America<br>

Trial
registration number: NCT01775072<br>

 

<b>Data
access</b>

Non-identifying
clinical characteristics data are openly available in Table 2 of the
manuscript. Identifying information for the patients is not available to
protect patient privacy.

 

The sequence
data accessed for this study from the National Cancer Institute (NCI) Genomic
Data Commons (GDC) legacy archive, are described in the file
tcga_identifiers.xlsx, which is part of this <i>figshare</i> record.

 

The nonsynonymous
somatic mutation sequence data identified in this study from 18 patients can be
accessed from the cBioPortal repository https://identifiers.org/cbioportal:mixed_msk_tcga_2021

 

The
immunoblotting images and cell survival data from the study can be found in Figure
4 of the related article, and in Figure S3 of the related article’s supplementary
information file.

 

The flow
cytometry data are openly available from https://github.com/jsetton1/npjBreastCancer_RAD51B.

 

Please note
that the materials and reagents used in this study may be subject to an
institutional material transfer agreement.<br>

 

<b>Corresponding author for this study</b>

Diana
Mandelker (mandelkd@mskcc.org)

<br>
<b>Study approval </b>

Institutional
Review Board at Memorial Sloan Kettering Cancer Center (MSKCC)