Constitutional mosaicism for aBRCA2mutation as a cause of early-onset breast cancer

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dc.contributor.author Alhopuro, Pia
dc.contributor.author Vainionpää, Reetta
dc.contributor.author Anttonen, Anna-Kaisa
dc.contributor.author Aittomäki, Kristiina
dc.contributor.author Nevanlinna, Heli
dc.contributor.author Pöyhönen, Minna
dc.date.accessioned 2020-10-29T10:57:01Z
dc.date.available 2020-10-29T10:57:01Z
dc.date.issued 2020-10
dc.identifier.citation Alhopuro , P , Vainionpää , R , Anttonen , A-K , Aittomäki , K , Nevanlinna , H & Pöyhönen , M 2020 , ' Constitutional mosaicism for aBRCA2mutation as a cause of early-onset breast cancer ' , Familial Cancer , vol. 19 , no. 4 , pp. 307-310 . https://doi.org/10.1007/s10689-020-00186-1
dc.identifier.other PURE: 144175965
dc.identifier.other PURE UUID: 5279dc8f-b6b4-493e-9979-0d106aa365ef
dc.identifier.other WOS: 000556430900001
dc.identifier.other ORCID: /0000-0003-2037-2744/work/82752041
dc.identifier.uri http://hdl.handle.net/10138/320791
dc.description.abstract Germline mutations in theBRCA1andBRCA2genes cause hereditary breast and ovarian cancer syndrome (HBOC). Mutations in these genes are usually inherited, and reports ofde novo BRCA1/2mutations are rare. To date, only one patient with low-levelBRCA1mutation mosaicism has been published. We report on a breast cancer patient with constitutional somatic mosaicism of aBRCA2mutation.BRCA2mutation c.9294C>G, p.(Tyr3098Ter) was detected in 20% of reads in DNA extracted from peripheral blood using next-generation sequencing (NGS). TheBRCA2mutation 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 aBRCA2mutation and shows thatBRCA2mosaicism can underlie early-onset breast cancer. NGS forBRCA1/2should be considered for patients whose tumors harbor aBRCA1/2mutation and for individuals suggestive of genetic predisposition but without a family history of HBO. en
dc.format.extent 4
dc.language.iso eng
dc.relation.ispartof Familial Cancer
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject BRCA1
dc.subject BRCA2
dc.subject Mosaicism
dc.subject Breast cancer
dc.subject De novo
dc.subject Next-generation sequencing
dc.subject MUTATIONS
dc.subject 3122 Cancers
dc.subject 3111 Biomedicine
dc.subject 1184 Genetics, developmental biology, physiology
dc.title Constitutional mosaicism for aBRCA2mutation as a cause of early-onset breast cancer en
dc.type Article
dc.contributor.organization HUSLAB
dc.contributor.organization Department of Medical and Clinical Genetics
dc.contributor.organization Helsinki University Hospital Area
dc.contributor.organization Medicum
dc.contributor.organization Anna-Elina Lehesjoki / Principal Investigator
dc.contributor.organization Kristiina Aittomäki / Principal Investigator
dc.contributor.organization HUS Gynecology and Obstetrics
dc.contributor.organization Biosciences
dc.contributor.organization Department of Obstetrics and Gynecology
dc.contributor.organization Minna Pöyhönen / Principal Investigator
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1007/s10689-020-00186-1
dc.relation.issn 1389-9600
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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