Metadata record for the manuscript: Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: An international multi-center study of 47,180 subjects
Creators: name: Li, Na
name: Zethoven, Magnus
name: McInerny, Simone
name: Devereux, Lisa
name: Huang, Yu-Kuan
name: Thio, Niko
name: Cheasley, Dane
name: Gutiérrez-Enríquez, Sara
name: Moles-Fernández, Alejandro
name: Diez, Orland
name: Nguyen-Dumont, Tu
name: Southey, Melissa C.
name: Hopper, John L.
name: Simard, Jacques
name: Dumont, Martine
name: Soucy, Penny
name: Meindl, Alfons
name: Schmutzler, Rita
name: Schmidt, Marjanka K
name: Adank, Muriel A.
name: Andrulis, Irene L.
name: Hahnen, Eric
name: Engel, Christoph
name: Lesueur, Fabienne
name: Girard, Elodie
name: Neuhausen, Susan L.
name: Ziv, Elad
name: Allen, Jamie
name: Easton, Douglas F.
name: Scott, Rodney J.
name: Gorringe, Kylie L.
name: James, Paul A.
name: Campbell, Ian G.
Publisher: name: figshare
Year: 2021
Subjects: Biological Sciences not elsewhere classified
Cancer
Cancer Genetics
Gene Expression (incl. Microarray and other genome-wide approaches)

description: <b>Summary</b><br>

This
metadata record provides details of the data supporting the claims of the
related manuscript: “Evaluation of the association of
heterozygous germline variants in NTHL1 with breast cancer predisposition: An
international multi-center study of 47,180 subjects”.

The
related study addressed the question of whether carriers of monoallelic loss-of-function
(LoF) variants are also predisposed to breast
cancer by sequencing all exons and exon-intron boundaries of NTHL1 in 9,771
subjects in the hereditary BrEAst Case CONtrol (BEACCON) study, comprising
index cases from hereditary breast cancer families who tested negative for
germline pathogenic variants in BRCA1 and BRCA2 and cancer-free older female
controls in the same population.

 

Type of data:
exome sequencing, exon-intron boundary sequencing, international multi-center
study 

Subject of
data: <i>Homo sapiens</i>

Sample size:
47180

Population
characteristics: The cases study participants were all female with a personal
and family history of breast cancer and over the age of 18. The controls were
women in the Lifepool cohort (www.lifepool.org) who were above 40 years old and
cancer-free as of May 2016.

Recruitment:
The cases were recruited through familial cancer centres in Australia and the
controls were recruited through breast screen Victoria.

 

<b>Data
access</b>

The sequencing
data have been deposited in the <i>European
Genotype-phenotype Archive </i>under the following accession: https://identifiers.org/ega.dataset:EGAD00001007025
(study ID: EGAS00001005043). These data include: NTHL1 sequencing using
germline DNA, Alignment and variant calling, Whole-genome sequencing and
targeted sequencing of tumour DNA, Genome-wide copy number analysis, Mutational
signature analysis.

Additionally, the following data are
not openly available to protect patient privacy: NTHL1 protein expression
analysis, FCC patient database, cohorts summary, NTHL1 promoter methylation
analysis. Data requests for these data should be made to the corresponding
author.

 

<b>Corresponding author(s) for this study</b>

Ian
Campbell, Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Victoria,
Australia. Phone: +61 3 8559 7109. Email: ian.campbell@petermac.org

<br>
<b>Name of Institutional Review Board or ethics
committee that approved the study </b>

The
study was approved by the Human Research Ethics Committee at the Peter
MacCallum Cancer Centre (Approval # 09/29) and all participating centres. All
participants provided informed consent for genetic analysis of their germline
DNA.