BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 gene (BRAC1Ex17 iPSC) in a high-risk family context. Blood cells were reprogrammed used non-integrative virus of Sendaï. The BRCA1-deleted iPSC had normal karyotype, harboured a deletion in the exon 17 of the BRCA1 gene, expressed pluripotent hallmarks and had the differentiation capacity into the three germ layers.
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http://dx.doi.org/10.1016/j.scr.2017.09.003 | DOI Listing |
Int J Mol Sci
December 2024
Laboratory of Epigenetics, Research Centre for Medical Genetics, Moskvorechie st., 1, 115522 Moscow, Russia.
Homologous recombination repair deficiency (HRD) is involved in the development of high-grade serous ovarian carcinoma (HGSOC) and its elevated sensitivity to platinum-based chemotherapy. To investigate the heterogeneity of the HRD-positive HGSOC we evaluated the HRD status, including BRCA mutations, genomic scar score, and methylation status of genes in 352 HGSOC specimens. We then divided the HRD-positive cohort into three molecular subgroups, the BRCA mutation cohort (BRCA+), BRCA1 methylation cohort (Meth+), and the rest of the HRD+ cohort (HRD+BRCA-Meth-), and evaluated their first-line chemotherapy response, benefit from olaparib, and progression-free survival (PFS).
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul 03760, Republic of Korea.
Background: The accurate interpretation of the /2 variant is critical for diagnosing and treating hereditary breast and ovarian cancers. ClinVar is a widely used public database for genetic variants. Conflicting classifications of pathogenicity can occur when different submitters categorize the same genetic variant inconsistently as pathogenic (PV), likely pathogenic (LPV), likely benign (LBV), benign (BV), or a variant of uncertain significance (VUS).
View Article and Find Full Text PDFGenes (Basel)
November 2024
Department of Math Science and Technology, University of Minnesota Crookston, Crookston, MN 56716, USA.
Large wild mammals are extremely important in their respective ecological communities and are frequently considered to be emblematic. This is the case of the different tapir species, the largest terrestrial mammals from the Neotropics. Despite their large size and being objects of interest for many naturalists, the field still lacks critical genetics and systematics information about tapir species.
View Article and Find Full Text PDFEur J Surg Oncol
December 2024
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Background: Risk reducing mastectomy (RRM) is an option for women with pathogenic germline variants in BRCA1 or BRCA2 (BRCA1/2). This study investigates and compares RRM-uptake among Norwegian BRCA1/2 carriers from 2008 to 2021, temporal trends, and incidence of breast cancer (BC) after surgery.
Methods: BRCA1/2 carriers without prior breast or ovarian cancer, tested at Oslo University Hospital between January 1st 2008 and December 31st 2021 were included in the study.
Front Oncol
December 2024
Department of Pathology, Weifang Hospital of Traditional Chinese Medicine, Weifang, Shandong, China.
Ductal carcinoma (DCIS), a noninvasive breast cancer, rarely metastasises to distant locations. When the initial lesion is stable, bone marrow metastasis (BMM) and bone marrow necrosis (BMN) are even less common. Here, we report the case of a 47-year-old female patient who underwent localized surgery and radiotherapy for right-sided DCIS.
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