{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T08:22:27Z","timestamp":1793694147204,"version":"4.5.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Finnish State Research Fund"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in the <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes cause hereditary breast and ovarian cancer syndrome (HBOC). Mutations in these genes are usually inherited, and reports of <jats:italic>de novo BRCA1\/2<\/jats:italic> mutations are rare. To date, only one patient with low-level <jats:italic>BRCA1<\/jats:italic> mutation mosaicism has been published. We report on a breast cancer patient with constitutional somatic mosaicism of a <jats:italic>BRCA2<\/jats:italic> mutation. <jats:italic>BRCA2<\/jats:italic> mutation c.9294C&gt;G, p.(Tyr3098Ter) was detected in 20% of reads in DNA extracted from peripheral blood using next-generation sequencing (NGS). The <jats:italic>BRCA2<\/jats:italic> mutation was subsequently observed at similar levels in normal breast tissue, adipose tissue, normal right fallopian tube tissue and ovaries of the patient, suggesting that this mutation occurred early in embryonic development. This is the first case to report constitutional mosaicism for a <jats:italic>BRCA2<\/jats:italic> mutation and shows that <jats:italic>BRCA2<\/jats:italic> mosaicism can underlie early-onset breast cancer. NGS for <jats:italic>BRCA1\/2<\/jats:italic> should be considered for patients whose tumors harbor a <jats:italic>BRCA1\/2<\/jats:italic> mutation and for individuals suggestive of genetic predisposition but without a family history of HBO.<\/jats:p>","DOI":"10.1007\/s10689-020-00186-1","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T04:14:51Z","timestamp":1590639291000},"page":"307-310","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer"],"prefix":"10.1007","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5745-0449","authenticated-orcid":false,"given":"Pia","family":"Alhopuro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Vainionp\u00e4\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Kaisa","family":"Anttonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"P\u00f6yh\u00f6nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"186_CR1","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1399-0004.2012.01859.x","volume":"82","author":"F Lalloo","year":"2012","unstructured":"Lalloo F, Evans DG (2012) Familial breast cancer. 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