{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:16:03Z","timestamp":1769386563014,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100015310","name":"Natural Science Foundation of Xinjiang","doi-asserted-by":"publisher","award":["2017D01C408"],"award-info":[{"award-number":["2017D01C408"]}],"id":[{"id":"10.13039\/501100015310","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>BRCA1\u2010associated RING Domain 1 (BARD1) is an important gene related to breast cancer development. However, the role of BARD1\u00a0mutations in breast cancer remains inconclusive. This study is to investigate the relationship between exon mutations of BARD1\u00a0gene and the risk of early\u2010onset breast cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Totally, 60 cases of early\u2010onset breast cancer patients (age 30\u201340\u00a0years) and 240\u00a0healthy women (age 30\u201340\u00a0years) were enrolled. Exon mutations of BARD1 were detected and analyzed by direct sequencing and SNaPshot.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The risk of breast cancer was increased by 3.475 times in carriers with deletion mutation at rs28997575\u00a0site of BARD1 (aOR<jats:sub>1<\/jats:sub>\u00a0=\u00a03.475, 95%CI\u00a0=\u00a01.302\u20139.276) (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.013). The risk of breast cancer in carriers with GC genotype at rs2229571\u00a0site of BARD1 was reduced by 72.6% (aOR<jats:sub>1<\/jats:sub>\u00a0=\u00a00.274, 95%CI\u00a0=\u00a00.134\u20130.562) (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.001), and that in carriers with CC genotype was reduced by 82.8% (aOR<jats:sub>1<\/jats:sub>\u00a0=\u00a00.172, 95%CI\u00a0=\u00a00.076\u20130.392) (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.001). After stratification with family history, the difference of rs2229571\u00a0site mutation genotype was statistically significant (OR\u00a0=\u00a0\u22122.169, 95%CI\u00a0=\u00a00.016\u20130.828, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.032). Additionally, the frequency distribution of breast cancer family history in the case group (15%) was significantly more than that in the control group (6.7%) (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.037).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The deletion mutation at rs28997575\u00a0locus of the BARD1\u00a0gene can significantly increase the risk of breast cancer. The mutation genotype of rs2229571\u00a0locus can significantly reduce the risk of breast cancer. Family history is associated with BARD1\u00a0gene polymorphism. A family history of breast cancer may be a risk factor for breast cancer.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1847","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T12:59:39Z","timestamp":1643288379000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mutations in exon region of BRCA1\u2010related RING domain 1 gene and risk of breast cancer"],"prefix":"10.1002","volume":"10","author":[{"given":"Jun","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Head and Neck Surgery Affiliated Tumor Hospital Xinjiang Medical University  Urumqi P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alibiati","family":"Aini","sequence":"additional","affiliation":[{"name":"Department of Head and Neck Surgery Affiliated Tumor Hospital Xinjiang Medical University  Urumqi P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5432-9632","authenticated-orcid":false,"given":"Binlin","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Breast and Thyroid Surgery Affiliated Tumor Hospital Xinjiang Medical University  Urumqi P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11080856"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0227404"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21492"},{"issue":"20","key":"e_1_2_7_5_1","first-page":"2456","article-title":"Research advances in breast cancer susceptible gene mutations","volume":"40","author":"Cheng X.","year":"2018","journal-title":"Guangxi Medical Journal"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.7150\/jca.36164"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.32492"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.3236"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1913948"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010019\u201004928\u2010y"},{"issue":"1","key":"e_1_2_7_11_1","first-page":"834","article-title":"The expression and clinical significance of BARD1 shear variants in sporadic breast cancer of Han women","volume":"27","author":"Hua B.","year":"2012","journal-title":"Chinese Journal of General Surgery"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0304\u20103835(03)00387\u20102"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2018.01.101"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010016\u20104085\u20109"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11111251"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0529\u2010567X.2017.06.009"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549\u2010016\u20104038\u2010y"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102407\u20106\u2010114"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2019.11.014"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy106"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1715467115"},{"issue":"4","key":"e_1_2_7_22_1","first-page":"398","article-title":"The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping","volume":"16","author":"Tobler A. 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