dc.contributor.author
Hage, Anna Maria
dc.contributor.author
Gebert, Pimrapat
dc.contributor.author
Blohmer, Jens-Uwe
dc.contributor.author
Hedayati, Elham
dc.contributor.author
Speiser, Dorothee
dc.contributor.author
Karsten, Maria Margarete
dc.date.accessioned
2025-07-14T16:31:05Z
dc.date.available
2025-07-14T16:31:05Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/48220
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-47943
dc.description.abstract
Data are scarce on the role of pathogenic germline variants in BRCA1 and BRCA2 (gBRCAm) in subtype-specific survival in young women who develop breast cancer under the age of 40. This retrospective, real-world cohort study assessed the distant disease-free survival (DDFS) and overall survival (OS) of young women diagnosed with breast cancer between 2008 and 2019 while taking into consideration the interaction of clinical subtypes and the gBRCA status. Among 473 women, HR+/Her2- was the most common subtype (49.0%), followed by TNBC (31.3%), HR+/Her2+ (13.7%), and Her2+/HR- (5.9%). The gBRCA status was known for 319 cases (gBRCAwt (wild-type - without pathogenic variants in BRCA1 or BRCA2): 204, gBRCA1m: 83, gBRCA2m: 31, 1 patient with both). The distribution of clinical subtypes varied depending on the gBRCA status (p < 0.001). In survival analysis with a median follow-up of 43 months, the unadjusted DDFS and OS were worse for gBRCAwt TNBC compared to both HR+ subtypes, but not for gBRCAm TNBC patients. T-stage, nodal involvement, and the gBRCA status were identified as significant for survival in TNBC. In TNBC, gBRCAm was associated with better DDFS and OS than gBRCAwt (5-year DDFS 81.4% vs. 54.3%, p = 0.012 and 5-year OS 96.7% vs. 62.7%, p < 0.001). In contrast, in HR+/Her2- patients, gBRCAm patients showed a tendency for worse survival, though not statistically significant. Subtype-specific survival in young women with breast cancer needs to be evaluated in interaction with the gBRCA status. For TNBC, gBRCAm is of favorable prognostic value for overall survival, while patients with gBRCAwt TNBC need to be considered to have the highest risk for adverse survival outcomes.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
young women with breast cancer
en
dc.subject
subtype-specific survival
en
dc.subject
pathogenic germline BRCA variants
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Subtype-Specific Survival of Young Women with Breast Cancer and Its Interaction with the Germline BRCA Status
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
738
dcterms.bibliographicCitation.doi
10.3390/cancers16040738
dcterms.bibliographicCitation.journaltitle
Cancers
dcterms.bibliographicCitation.number
4
dcterms.bibliographicCitation.originalpublishername
MDPI AG
dcterms.bibliographicCitation.volume
16
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
38398129
dcterms.isPartOf.eissn
2072-6694