Metadata record for the article: Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

Summary

This
metadata record provides details of the data supporting the claims of the
related article: “Current gene panels account for
nearly all homologous recombination repair-associated multiple-case breast
cancer families”.

The
related study hypothesised that variants in underexplored homologous
recombination repair (HR) genes could explain unsolved multiple-case breast
cancer (BC) families, and investigated HR deficiency (HRD)-associated
mutational signatures and second hits in tumour DNA from familial BC cases.

Type of data:
tumour and germline data; whole exome sequencing

Subject of
data: Homo sapiens

Sample size:
38

Population
characteristics: Candidate
families with early-onset BC or a strong family history of breast cancer. Blood
samples were obtained directly from the participants at the time they were
consented into the biobank or study. Tumour blocks were requested from
pathology archives at various hospitals served by the CHUM and McGill genetic
services in the greater western Quebec region.

Data
access

Tumour and
germline datasets generated during the current study are not publicly available
as they are old samples that precede the reporting standards requiring
deposition in public repositories, and, therefore, the consent provided by
study participants did not include a provision for widespread disclosure.
However, direct requests can be made to the corresponding authors for access.

The
following files are openly available as part of this figshare data record: ‘Master_list_variant.xlsx’ (underlying Table
1), ‘Genes assessed initially.xlsx’ (underlying Supplementary Table 1), ‘Candidate
Genes list.xlsx’ (underlying Supplementary Table 2).

All other
data are housed on institutional storage and are not openly available in order
to protect patient privacy as informed consent to share participant-level data
was not obtained prior to or during data collection. However, these data can be
requested from Dr Foulkes. The files are: ‘all germline_sample.vcf’, ‘data.tumor.maf’,
‘all tumor_sample.vcf’, ‘all sample.out.gzsmall.seqz.gz’.

Corresponding author(s) for this study

William
D Foulkes, 1Department of Human Genetics, McGill University, 3640 Rue
University, Room W-315D, Montreal, QC, H3A 0C7, Canada. [e-mail]

Paz
Polak. 13Department of Oncological Sciences, Icahn School of Medicine at Mount
Sinai Hospital, Gustave L. Levy Place, NY 10029-5674 New York, USA.
[e-mail]

Study
approval

Participants to this study were consented at two Montreal sites. The majority of participants were consented into a biobank entitled “Banque d'échantillons biologiques et de données (cliniques et biologiques) associées à des fins de recherche sur les cancers métastatiques du sein et de l'ovaire” created in 2000 and approved by the CHUM Institutional Review Board, approval number BD 04.002. A few additional participants were consented directly into the linked scientific study created and approved by the McGill University Institution Review Board in 2011 called “Genome-wide approaches in hereditary cancer families”, study number A08-M61-09B.