{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:13Z","timestamp":1772160073082,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T00:00:00Z","timestamp":1679875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In breast or ovarian cancer (BC\/OC) patients with evocative personal and\/or family history, multigene panel sequencing is performed on blood to diagnose hereditary predispositions. Additionally,\n                    <jats:italic>BRCA1<\/jats:italic>\n                    \/\n                    <jats:italic>BRCA2<\/jats:italic>\n                    testing can be performed on tumor sample for therapeutic purpose. The accuracy of multigene panel tumor analysis on BC\/OC to detect predisposing germline pathogenic variants (gPV) has not been precisely assessed. By comparing sequencing data from blood and fresh\u2010frozen tumor we show that tumor genomic instability causes pitfalls to consider when performing tumor testing to detect gPV. Even if loss of heterozygosity increases germline signal in most cases, somatic copy number variants (CNV) can mask germline CNV and collapse point gPV variant allele frequency (VAF). Moreover, VAF does not allow an accurate distinction between germline and somatic pathogenic variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.14327","type":"journal-article","created":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T01:34:38Z","timestamp":1679967278000},"page":"107-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh\u2010frozen breast\/ovarian tumor versus blood"],"prefix":"10.1111","volume":"104","author":[{"given":"Mathias","family":"Schwartz","sequence":"first","affiliation":[{"name":"Department of Genetics Institut Curie  Paris France"},{"name":"Paris Sciences Lettres Research University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie","family":"Moncoutier","sequence":"additional","affiliation":[{"name":"Department of Genetics Institut Curie  Paris 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