{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:41:11Z","timestamp":1740123671810,"version":"3.37.3"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005029","name":"helse vest regionalt helsef\u00f8retak","doi-asserted-by":"publisher","award":["F-10199\/4800001941"],"award-info":[{"award-number":["F-10199\/4800001941"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Bergen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic germline variants in <jats:italic>Breast cancer susceptibility gene 1<\/jats:italic> (<jats:italic>BRCA1<\/jats:italic>) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number of novel <jats:italic>BRCA1<\/jats:italic> variants are discovered. This creates a growing need to determine the clinical significance of these variants through correct classification (class 1\u20135) according to established guidelines. Here we present a joint collection of all <jats:italic>BRCA1<\/jats:italic> variants of class 2\u20135 detected in the four diagnostic genetic laboratories in Norway. The overall objective of the study was to generate an overview of all <jats:italic>BRCA1<\/jats:italic> variants in Norway and unveil potential discrepancies in variant interpretation between the hospitals, serving as a quality control at the national level. For a subset of variants, we also assessed the change in classification over a ten-year period with increasing information available. In total, 463 unique <jats:italic>BRCA1<\/jats:italic> variants were detected. Of the 126 variants found in more than one hospital, 70% were interpreted identically, while 30% were not. The differences in interpretation were mainly by one class (class 2\/3 or 4\/5), except for one larger discrepancy (class 3\/5) which could affect the clinical management of patients. After a series of digital meetings between the participating laboratories to disclose the cause of disagreement for all conflicting variants, the discrepancy rate was reduced to 10%. This illustrates that variant interpretation needs to be updated regularly, and that data sharing and improved national inter-laboratory collaboration greatly improves the variant classification and hence increases the accuracy of cancer risk assessment.<\/jats:p>","DOI":"10.1007\/s10689-021-00286-6","type":"journal-article","created":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T03:02:33Z","timestamp":1641265353000},"page":"389-398","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories"],"prefix":"10.1007","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0955-6465","authenticated-orcid":false,"given":"Henrikke N.","family":"Hovland","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafal","family":"Al-Adhami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah Louise","family":"Ariansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marijke","family":"Van Ghelue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenche","family":"Sjursen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Lima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marte","family":"Bolstad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amund H.","family":"Berger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hildegunn","family":"H\u00f8berg-Vetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Knappskog","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bj\u00f8rn Ivar","family":"Haukanes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingvild","family":"Aukrust","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4775-0661","authenticated-orcid":false,"given":"Elisabet","family":"Ognedal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,4]]},"reference":[{"key":"286_CR1","doi-asserted-by":"crossref","unstructured":"Kuchenbaecker KB, et al (2017) Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers","DOI":"10.1093\/jnci\/djw302"},{"key":"286_CR2","unstructured":"The ClinVar Database. 11.09.20. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=BRCA1%5Bgene%5D."},{"issue":"5","key":"286_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 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