{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:52:28Z","timestamp":1789426348082,"version":"build-2803163510"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T00:00:00Z","timestamp":1601942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["17\u201000\u201000171"],"award-info":[{"award-number":["17\u201000\u201000171"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["18\u2010515\u201045012"],"award-info":[{"award-number":["18\u2010515\u201045012"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["19\u2010515\u201025001"],"award-info":[{"award-number":["19\u2010515\u201025001"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>PALB2<\/jats:italic> is \u0430 high\u2010penetrance gene for hereditary breast cancer (BC). Our study aimed to investigate the spectrum of <jats:italic>PALB2<\/jats:italic> mutations in Russian cancer patients. <jats:italic>PALB2<\/jats:italic> sequencing revealed pathogenic variants in 3\/190 (1.6%) young\u2010onset and\/or familial and\/or bilateral BC cases but none in 96 ovarian cancer (OC) or 172 pancreatic cancer patients. Subsequently, seven recurrent <jats:italic>PALB2<\/jats:italic> pathogenic alleles were selected from this and previous Slavic studies and tested in an extended patient series. <jats:italic>PALB2<\/jats:italic> pathogenic variants were detected in 5\/585 (0.9%) \u201chigh\u2010risk\u201d BC, 10\/1508 (0.7%) consecutive BC and 5\/1802 (0.3%) OC cases. Haplotyping suggested that subjects with Slavic alleles c.509\u2010510delGA (n = 10) and c.172\u2010175delTTGT (n = 4) as well as carriers of Finnish c.1592delT mutation (n = 4) originated from a single founder each, while <jats:italic>PALB2<\/jats:italic> p.R414X allele (n = 4) had at least two independent founders. Somatic loss of heterozygosity (LOH) was revealed in 5\/10 chemonaive BCs and in 0\/2 BC samples obtained after neoadjuvant therapy. Multigene sequencing identified somatic <jats:italic>PALB2<\/jats:italic> inactivating point mutation in one out of two tumors without <jats:italic>PALB2<\/jats:italic> LOH but in none of four BCs with <jats:italic>PALB2<\/jats:italic> LOH. Genomic instability, as determined by NGS, was observed in four out of five tumors with biallelic <jats:italic>PALB2<\/jats:italic> inactivation but not in the BC sample with the preserved wild\u2010type <jats:italic>PALB2<\/jats:italic> allele. <jats:italic>PALB2<\/jats:italic> germ\u2010line mutations contribute to a small fraction of cancer cases in Russia. The majority although not all <jats:italic>PALB2<\/jats:italic>\u2010driven BCs have somatic inactivation of the remaining <jats:italic>PALB2<\/jats:italic> allele and therefore potential sensitivity to platinum compounds and PARP inhibitors.<\/jats:p>","DOI":"10.1002\/ijc.33317","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T20:07:10Z","timestamp":1601496430000},"page":"203-210","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Frequency and molecular characteristics of <scp><i>PALB2<\/i><\/scp>\u2010associated cancers in Russian patients"],"prefix":"10.1002","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7800-013X","authenticated-orcid":false,"given":"Elena V.","family":"Preobrazhenskaya","sequence":"first","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"},{"name":"St. Petersburg Pediatric Medical University  St. Petersburg Russia"},{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine Federal Research and Clinical Center of Physical and Chemical Medicine  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla U.","family":"Shleykina","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga A.","family":"Gorustovich","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandr S.","family":"Martianov","sequence":"additional","affiliation":[{"name":"St. Petersburg Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilya V.","family":"Bizin","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena I.","family":"Anisimova","sequence":"additional","affiliation":[{"name":"St. Petersburg Regional Cancer Hospital  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana N.","family":"Sokolova","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"},{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine Federal Research and Clinical Center of Physical and Chemical Medicine  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Chuinyshena","sequence":"additional","affiliation":[{"name":"St. Petersburg Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekatherina Sh.","family":"Kuligina","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"},{"name":"St. Petersburg Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandr V.","family":"Togo","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"},{"name":"St. Petersburg Pediatric Medical University  St. Petersburg Russia"},{"name":"Center for Precision Genome Editing and Genetic Technologies for Biomedicine Federal Research and Clinical Center of Physical and Chemical Medicine  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey M.","family":"Belyaev","sequence":"additional","affiliation":[{"name":"N.N. Petrov Institute of Oncology  St. Petersburg Russia"},{"name":"I.I. Mechnikov North\u2010Western Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandr O.","family":"Ivantsov","sequence":"additional","affiliation":[{"name":"N.N. 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