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1.	Jiang, X., et al. (författare) Shared heritability and functional enrichment across six solid cancers 2019 Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 10 Tidskriftsartikel (refereegranskat)abstract Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r(g) = 0.57, p = 4.6 x 10(-8)), breast and ovarian cancer (r(g) = 0.24, p = 7 x 10(-5)), breast and lung cancer (r(g) = 0.18, p = 1.5 x 10(-6)) and breast and colorectal cancer (r(g) = 0.15, p = 1.1 x 10(-4)). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
2.	Fachal, L, et al. (författare) Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes 2020 Ingår i: Nature genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 52:1, s. 56-73 Tidskriftsartikel (refereegranskat)
3.	Figlioli, G, et al. (författare) The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer 2019 Ingår i: NPJ breast cancer. - : Nature Publishing Group. - 2374-4677. ; 5, s. 38- Tidskriftsartikel (refereegranskat)
4.	Ferreira, MA, et al. (författare) Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer 2019 Ingår i: Nature communications. - : Nature Publishing Group. - 2041-1723. ; 10:1, s. 1741- Tidskriftsartikel (refereegranskat)
5.	Rebbeck, TR, et al. (författare) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations 2018 Ingår i: Human mutation. - 1098-1004. ; 39:5, s. 593-620 Tidskriftsartikel (refereegranskat)
6.	Bojesen, SE, et al. (författare) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer 2013 Ingår i: Nature genetics. - New york : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 45:4, s. 371-384 Tidskriftsartikel (refereegranskat)
7.	Kuchenbaecker, KB, et al. (författare) Identification of six new susceptibility loci for invasive epithelial ovarian cancer 2015 Ingår i: Nature genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 47:2, s. 164-171 Tidskriftsartikel (refereegranskat)
8.	Couch, FJ, et al. (författare) Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk 2013 Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 9:3, s. e1003212- Tidskriftsartikel (refereegranskat)
9.	Jiang, X, et al. (författare) Publisher Correction: Shared heritability and functional enrichment across six solid cancers 2019 Ingår i: Nature communications. - 2041-1723. ; 10:1, s. 4386- Tidskriftsartikel (övrigt vetenskapligt)
10.	Milne, Roger L, et al. (författare) Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. 2017 Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 49:12, s. 1767-1778 Tidskriftsartikel (refereegranskat)abstract Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

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