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

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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 .

Title: Constitutional mosaicism for aBRCA2mutation as a cause of early-onset breast cancer
Author: Alhopuro, Pia; Vainionpää, Reetta; Anttonen, Anna-Kaisa; Aittomäki, Kristiina; Nevanlinna, Heli; Pöyhönen, Minna
Contributor organization: HUSLAB
Department of Medical and Clinical Genetics
Helsinki University Hospital Area
Anna-Elina Lehesjoki / Principal Investigator
Kristiina Aittomäki / Principal Investigator
HUS Gynecology and Obstetrics
Department of Obstetrics and Gynecology
Minna Pöyhönen / Principal Investigator
Date: 2020-10
Language: eng
Number of pages: 4
Belongs to series: Familial Cancer
ISSN: 1389-9600
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.
Subject: BRCA1
Breast cancer
De novo
Next-generation sequencing
3122 Cancers
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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