In:
Frontiers in Oncology, Frontiers Media SA, Vol. 11 ( 2021-2-24)
Kurzfassung:
The partner and localizer of BRCA2 ( PALB2 ) is a major BRCA2 binding partner that participates in homologous recombination repair in response to DNA double-strand breaks. Germline alterations of the PALB2 gene have recently been associated with a high risk of developing breast cancer. We investigated a 37-year-old Caucasian woman with breast cancer and family history of breast cancer using targeted next generation sequencing. A novel heterozygous deletion involving exons 5 and 6 was found in the PALB2 gene, and resulted in the production of a truncated PALB2 protein. These findings expand the mutational spectra of PALB2 -associated breast cancer, and may improve the mutation-based screening and genetic diagnosis of breast cancer.
Materialart:
Online-Ressource
ISSN:
2234-943X
DOI:
10.3389/fonc.2021.602523
Sprache:
Unbekannt
Verlag:
Frontiers Media SA
Publikationsdatum:
2021
ZDB Id:
2649216-7
