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000164977 0247_ $$2doi$$a10.3390/cancers14143363
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000164977 041__ $$aEnglish
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000164977 1001_ $$00000-0002-5488-4839$$aDumont, Martine$$b0
000164977 245__ $$aUncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
000164977 260__ $$aBasel$$bMDPI$$c2022
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000164977 520__ $$aRare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, explain only a fraction of the familial aggregation of the disease. To identify further susceptibility genes, we performed a two-stage whole-exome sequencing study. In the discovery stage, samples from 1528 breast cancer cases enriched for breast cancer susceptibility and 3733 geographically matched unaffected controls were sequenced. Using five different filtering and gene prioritization strategies, 198 genes were selected for further validation. These genes, and a panel of 32 known or suspected breast cancer susceptibility genes, were assessed in a validation set of 6211 cases and 6019 controls for their association with risk of breast cancer overall, and by estrogen receptor (ER) disease subtypes, using gene burden tests applied to loss-of-function and rare missense variants. Twenty genes showed nominal evidence of association (p-value < 0.05) with either overall or subtype-specific breast cancer. Our study had the statistical power to detect susceptibility genes with effect sizes similar to ATM, CHEK2, and PALB2, however, it was underpowered to identify genes in which susceptibility variants are rarer or confer smaller effect sizes. Larger sample sizes would be required in order to identify such genes.
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000164977 650_7 $$2Other$$abreast cancer
000164977 650_7 $$2Other$$agenetic susceptibility
000164977 650_7 $$2Other$$amoderate-penetrance genes
000164977 650_7 $$2Other$$awhole-exome sequencing
000164977 7001_ $$aWeber-Lassalle, Nana$$b1
000164977 7001_ $$aJoly-Beauparlant, Charles$$b2
000164977 7001_ $$00000-0001-7756-8815$$aErnst, Corinna$$b3
000164977 7001_ $$aDroit, Arnaud$$b4
000164977 7001_ $$aFeng, Bing-Jian$$b5
000164977 7001_ $$aDubois, Stéphane$$b6
000164977 7001_ $$aCollin-Deschesnes, Annie-Claude$$b7
000164977 7001_ $$aSoucy, Penny$$b8
000164977 7001_ $$aVallée, Maxime$$b9
000164977 7001_ $$aFournier, Frédéric$$b10
000164977 7001_ $$00000-0002-1817-7029$$aLemaçon, Audrey$$b11
000164977 7001_ $$aAdank, Muriel A$$b12
000164977 7001_ $$00000-0002-8677-2225$$aAllen, Jamie$$b13
000164977 7001_ $$aAltmüller, Janine$$b14
000164977 7001_ $$aArnold, Norbert$$b15
000164977 7001_ $$00000-0003-0305-3477$$aAusems, Margreet G E M$$b16
000164977 7001_ $$aBerutti, Riccardo$$b17
000164977 7001_ $$aBolla, Manjeet K$$b18
000164977 7001_ $$00000-0002-3280-7154$$aBull, Shelley$$b19
000164977 7001_ $$aCarvalho, Sara$$b20
000164977 7001_ $$aCornelissen, Sten$$b21
000164977 7001_ $$aDufault, Michael R$$b22
000164977 7001_ $$aDunning, Alison M$$b23
000164977 7001_ $$00000-0002-7247-282X$$aEngel, Christoph$$b24
000164977 7001_ $$aGehrig, Andrea$$b25
000164977 7001_ $$aGeurts-Giele, Willemina R R$$b26
000164977 7001_ $$aGieger, Christian$$b27
000164977 7001_ $$00000-0002-7005-2928$$aGreen, Jessica$$b28
000164977 7001_ $$aHackmann, Karl$$b29
000164977 7001_ $$aHelmy, Mohamed$$b30
000164977 7001_ $$aHentschel, Julia$$b31
000164977 7001_ $$aHogervorst, Frans B L$$b32
000164977 7001_ $$00000-0003-1166-1966$$aHollestelle, Antoinette$$b33
000164977 7001_ $$aHooning, Maartje J$$b34
000164977 7001_ $$aHorváth, Judit$$b35
000164977 7001_ $$aIkram, M Arfan$$b36
000164977 7001_ $$00000-0003-2577-9711$$aKaulfuß, Silke$$b37
000164977 7001_ $$aKeeman, Renske$$b38
000164977 7001_ $$00000-0003-3554-0464$$aKuang, Da$$b39
000164977 7001_ $$aLuccarini, Craig$$b40
000164977 7001_ $$0P:(DE-2719)2000015$$aMaier, Wolfgang$$b41$$udzne
000164977 7001_ $$00000-0002-3428-3366$$aMartens, John W M$$b42
000164977 7001_ $$aNiederacher, Dieter$$b43
000164977 7001_ $$00000-0002-7228-428X$$aNürnberg, Peter$$b44
000164977 7001_ $$00000-0003-3627-3791$$aOtt, Claus-Eric$$b45
000164977 7001_ $$00000-0001-6645-0985$$aPeters, Annette$$b46
000164977 7001_ $$aPharoah, Paul D P$$b47
000164977 7001_ $$0P:(DE-2719)2812825$$aRamirez, Alfredo$$b48$$udzne
000164977 7001_ $$aRamser, Juliane$$b49
000164977 7001_ $$aRiedel-Heller, Steffi$$b50
000164977 7001_ $$aSchmidt, Gunnar$$b51
000164977 7001_ $$aShah, Mitul$$b52
000164977 7001_ $$aScherer, Martin$$b53
000164977 7001_ $$aStäbler, Antje$$b54
000164977 7001_ $$aStrom, Tim M$$b55
000164977 7001_ $$aSutter, Christian$$b56
000164977 7001_ $$aThiele, Holger$$b57
000164977 7001_ $$avan Asperen, Christi J$$b58
000164977 7001_ $$avan der Kolk, Lizet$$b59
000164977 7001_ $$avan der Luijt, Rob B$$b60
000164977 7001_ $$aVolk, Alexander E$$b61
000164977 7001_ $$0P:(DE-2719)2000057$$aWagner, Michael$$b62$$udzne
000164977 7001_ $$aWaisfisz, Quinten$$b63
000164977 7001_ $$0P:(DE-2719)9000806$$aWang, Qing$$b64$$udzne
000164977 7001_ $$aWang-Gohrke, Shan$$b65
000164977 7001_ $$00000-0002-8808-7723$$aWeber, Bernhard H F$$b66
000164977 7001_ $$aGenome Of The Netherlands Project$$b67
000164977 7001_ $$aGhs Study Group$$b68
000164977 7001_ $$00000-0002-8023-2009$$aDevilee, Peter$$b69
000164977 7001_ $$aTavtigian, Sean$$b70
000164977 7001_ $$00000-0003-0185-8861$$aBader, Gary D$$b71
000164977 7001_ $$aMeindl, Alfons$$b72
000164977 7001_ $$aGoldgar, David E$$b73
000164977 7001_ $$00000-0002-4226-6435$$aAndrulis, Irene L$$b74
000164977 7001_ $$aSchmutzler, Rita K$$b75
000164977 7001_ $$aEaston, Douglas F$$b76
000164977 7001_ $$00000-0002-2228-429X$$aSchmidt, Marjanka K$$b77
000164977 7001_ $$aHahnen, Eric$$b78
000164977 7001_ $$00000-0001-6906-3390$$aSimard, Jacques$$b79
000164977 770__ $$aHereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment
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