Pub Date : 2024-03-25DOI: 10.1016/j.breast.2024.103721
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
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.
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Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103638
K.L. Olds ∗ , W. Raymond
{"title":"Does Nottingham grading of primary invasive breast carcinomas in an Adelaide metropolitan hospital pathology department adhere to the recommended distribution of grading?","authors":"K.L. Olds ∗ , W. Raymond","doi":"10.1016/j.breast.2023.103638","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103638","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103638"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007646/pdfft?md5=d6cbe6822e9bcc5d2fb5dc1d47fb9cfd&pid=1-s2.0-S0960977623007646-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103632
A. Khalaf ∗ , K. Braue , I. Hameed , K. Taubman , K. Mehta , C. Baker , J. Lippey
{"title":"Evaluation of internal mammary lymphadenopathy in patients with breast cancer by correlating CT/MRI visibility with FDG-PET avidity.","authors":"A. Khalaf ∗ , K. Braue , I. Hameed , K. Taubman , K. Mehta , C. Baker , J. Lippey","doi":"10.1016/j.breast.2023.103632","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103632","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103632"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007580/pdfft?md5=2244a0661a8fd696849dcd39856f2fa3&pid=1-s2.0-S0960977623007580-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103636
S. Nann , K. Guggenheimer
{"title":"Actinomycosis turicensis secondary to oral trauma as a cause of recurrent breast abscess","authors":"S. Nann , K. Guggenheimer","doi":"10.1016/j.breast.2023.103636","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103636","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103636"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007622/pdfft?md5=d64479248844bee2fb4ef1d392ef5c02&pid=1-s2.0-S0960977623007622-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103648
Z. Jiang ∗ , Z. Gandomkar , P.D. Trieu , S.T. Taba , M.L. Barron , S.J. Lewis
{"title":"The investigation of AI models on cancer sizes of screening mammograms","authors":"Z. Jiang ∗ , Z. Gandomkar , P.D. Trieu , S.T. Taba , M.L. Barron , S.J. Lewis","doi":"10.1016/j.breast.2023.103648","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103648","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103648"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007749/pdfft?md5=4fc101f643706943530d7bba9e4a4f6c&pid=1-s2.0-S0960977623007749-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103642
A.E. Leusink ∗ , A.R. Godden , N. Gonen-Yildirim , R. Law , J.E. Rusby
{"title":"Capturing longer term surgical outcome measures as part of routine care of breast cancer patients","authors":"A.E. Leusink ∗ , A.R. Godden , N. Gonen-Yildirim , R. Law , J.E. Rusby","doi":"10.1016/j.breast.2023.103642","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103642","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103642"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007683/pdfft?md5=2ca4fe17e4430918adf0bb901639a2b9&pid=1-s2.0-S0960977623007683-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103659
B. Holten ∗ , N. Dayaratna , C. Mak , J. Dusseldorp
{"title":"Abdominal Wall Function Following Breast Reconstruction with Abdominal Tissue Flaps: A Systematic Review","authors":"B. Holten ∗ , N. Dayaratna , C. Mak , J. Dusseldorp","doi":"10.1016/j.breast.2023.103659","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103659","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103659"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007853/pdfft?md5=6ca44d0d7986466cca4fa2dc54e3b9e4&pid=1-s2.0-S0960977623007853-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1016/j.breast.2023.103646
E. Novis , A. Spigelman , A.J. Chambers
{"title":"Treatment-Focused Rapid Genetic Testing in Breast Cancer","authors":"E. Novis , A. Spigelman , A.J. Chambers","doi":"10.1016/j.breast.2023.103646","DOIUrl":"https://doi.org/10.1016/j.breast.2023.103646","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"74 ","pages":"Article 103646"},"PeriodicalIF":3.9,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0960977623007725/pdfft?md5=ca9917e282cf70749f80fc183d709a41&pid=1-s2.0-S0960977623007725-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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