Petra Zemankova , Marta Cerna , Klara Horackova , Corinna Ernst , Jana Soukupova , Marianna Borecka , Britta Blümcke , Leona Cerna , Monika Cerna , Vaclava Curtisova , Tatana Dolezalova , Petra Duskova , Lenka Dvorakova , Lenka Foretova , Ondrej Havranek , Jan Hauke , Eric Hahnen , Miloslava Hodulova , Milena Hovhannisyan , Lucie Hruskova , Petra Kleiblova
{"title":"CHEK2深内含子复发性变异c.1009-118_1009-87delinsC影响前mRNA剪接，导致遗传性乳腺癌易感性","authors":"Petra Zemankova , Marta Cerna , Klara Horackova , Corinna Ernst , Jana Soukupova , Marianna Borecka , Britta Blümcke , Leona Cerna , Monika Cerna , Vaclava Curtisova , Tatana Dolezalova , Petra Duskova , Lenka Dvorakova , Lenka Foretova , Ondrej Havranek , Jan Hauke , Eric Hahnen , Miloslava Hodulova , Milena Hovhannisyan , Lucie Hruskova , Petra Kleiblova","doi":"10.1016/j.breast.2024.103721","DOIUrl":null,"url":null,"abstract":"<div><p>Germline <em>CHEK2</em> pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37).</p><p>The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors.</p><p>Based on these observations, we classified this variant as likely pathogenic.</p></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"75 ","pages":"Article 103721"},"PeriodicalIF":5.7000,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977624000523/pdfft?md5=c3da135a1da0e8ee0595e92bbb19bfb4&pid=1-s2.0-S0960977624000523-main.pdf","citationCount":"0","resultStr":"{\"title\":\"A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition\",\"authors\":\"Petra Zemankova , Marta Cerna , Klara Horackova , Corinna Ernst , Jana Soukupova , Marianna Borecka , Britta Blümcke , Leona Cerna , Monika Cerna , Vaclava Curtisova , Tatana Dolezalova , Petra Duskova , Lenka Dvorakova , Lenka Foretova , Ondrej Havranek , Jan Hauke , Eric Hahnen , Miloslava Hodulova , Milena Hovhannisyan , Lucie Hruskova , Petra Kleiblova\",\"doi\":\"10.1016/j.breast.2024.103721\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Germline <em>CHEK2</em> pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37).</p><p>The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors.</p><p>Based on these observations, we classified this variant as likely pathogenic.</p></div>\",\"PeriodicalId\":9093,\"journal\":{\"name\":\"Breast\",\"volume\":\"75 \",\"pages\":\"Article 103721\"},\"PeriodicalIF\":5.7000,\"publicationDate\":\"2024-03-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S0960977624000523/pdfft?md5=c3da135a1da0e8ee0595e92bbb19bfb4&pid=1-s2.0-S0960977624000523-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Breast\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0960977624000523\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Breast","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960977624000523","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37).
The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors.
Based on these observations, we classified this variant as likely pathogenic.
期刊介绍：
The Breast is an international, multidisciplinary journal for researchers and clinicians, which focuses on translational and clinical research for the advancement of breast cancer prevention, diagnosis and treatment of all stages.
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