DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Ovarian cancer. The EFO term ovarian carcinoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: ovarian carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

T Rafnar, DF Gudbjartsson, P Sulem, A Jonasdottir, A Sigurdsson, A Jonasdottir, S Besenbacher, P Lundin, SN Stacey, J Gudmundsson, OT Magnusson, L le Roux, G Orlygsdottir, HT Helgadottir, H Johannsdottir, A Gylfason, L Tryggvadottir, JG Jonasson, A de Juan, E Ortega, JM Ramon-Cajal, MD García-Prats, C Mayordomo, A Panadero, F Rivera, KK Aben, AM van Altena, LF Massuger, M Aavikko, PM Kujala, S Staff, LA Aaltonen, K Olafsdottir, J Bjornsson, A Kong, A Salvarsdottir, H Saemundsson, K Olafsson, KR Benediktsdottir, J Gulcher, G Masson, LA Kiemeney, JI Mayordomo, U Thorsteinsdottir, K Stefansson

TITLE:

Mutations in BRIP1 confer high risk of ovarian cancer.

JOURNAL:

Nature genetics Oct 2011, Vol 43, pp. 1104-7

ABSTRACT:

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 × 10(-14)). The mutation was also associated with increased risk of cancer in general and reduced lifespan by 3.6 years. In a Spanish population, another frameshift mutation in BRIP1, c.1702_1703del, was seen in 2 out of 144 subjects with ovarian cancer and 1 out of 1,780 control subjects (P = 0.016). This allele was also associated with breast cancer (seen in 6/927 cases; P = 0.0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer. PUBMED: 21964575
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