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

<b>Summary</b> 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: [email protected] <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.