We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypothesis we studied 18 subjects belonging to the three families under study, 11 deletion carriers and 7 non-carriers. We performed a haplotype analysis using two BRCA1 intragenic microsatellite markers and two markers surrounding the BRCA1 locus. The segregation analysis showed one common particular haplotype established by D17S1325, D17S1323, D17S855 and D17S1320 markers detected in the deletion carriers but absent in the non-carriers. Our study sustain that the deletion of exons 3-5 of BRCA1, g.8097_22733del14637, identified in families of southeastern of the Valencian Community is the first founder rearrangement until now reported in Spanish population, confirming the hypothesis that this mutation could have Iberian ancestry.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10689-012-9579-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.
Clin Genet
January 2025
Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Coxsackie and adenovirus receptor-like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations.
View Article and Find Full Text PDFMutational Landscape of Proto-Oncogene Coding Sequence in 62 Canine Cutaneous and Subcutaneous Mast Cell Tumors.
Vet Sci
November 2024
Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, I-35020 Legnaro, Italy.
Canine mast cell tumors (MCTs) are common skin neoplasms with varying biological behaviors. The proto-oncogene plays a key role in the development of these tumors, and internal tandem duplications on exon 11 are usually associated with more aggressive behavior, increased local recurrence, and decreased survival time. However, apart from exons 8-11 and 17, there is limited understanding of the overall mutational landscape in canine MCTs.
View Article and Find Full Text PDFDirect comparison of an ultrasensitive real-time PCR assay with droplet digital PCR for the detection of hotspot mutations in primary tumors, plasma cell-free DNA and paired CTC-derived gDNAs.
Front Oncol
December 2024
Analysis of Circulating Tumor Cells, Laboratory of Analytical Chemistry, Department of Chemistry, University of Athens, Athens, Greece.
Article Synopsis
- The study compares the effectiveness of ultrasensitive real-time PCR and droplet digital PCR (ddPCR) in detecting specific mutations associated with breast cancer in primary tumors and liquid biopsy samples.
- The research involved analyzing genetic material from 42 tumor samples and 29 plasma samples from patients with ER+ metastatic breast cancer, as well as samples from healthy donors.
- Results showed that both methods provided similar detection rates for certain mutations in tumor samples, with ultrasensitive real-time PCR performing better in plasma-cfDNA samples, indicating potential for non-invasive testing in cancer management.
Behavioral decline in Shank3 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes.
Mol Autism
December 2024
Department of Pharmacology, Southern Illinois University - School of Medicine, Springfield, IL, 62702, USA.
Article Synopsis
- The SHANK3 gene is linked to autism spectrum disorder (ASD) and is disrupted in Phelan-McDermid syndrome (PMS), which can worsen ASD symptoms; the study explores how Shank3 affects behavioral and cerebellar function in mice.
- Researchers examined various behavioral changes in Shank3 knockout mice at juvenile and adult stages, finding that deletion of Shank3 leads to motor deficits, increased anxiety, and repetitive behaviors, with effects becoming more severe in adults.
- Immunostaining and electrophysiology revealed Shank3 expression in cerebellar granule cells and a connection between behavioral deterioration and changes in synaptic activity, suggesting that age exacerbates behavioral issues due to alterations in cerebellar
Genome-Wide Identification and In Silico Analysis of Annexins in Chickpea (Cicer arietinum L.).
Biochem Genet
December 2024
Department of Botany, Guru Ghasidas Vishwavidyalaya (A Central University), Bilaspur, Chhattisgarh, 495009, India.
Article Synopsis
- Annexins are a group of proteins involved in calcium-mediated signaling, playing a key role in how plants respond to various stresses.
- This study focused on chickpeas (Cicer arietinum L.), identifying 13 annexin sequences in their genome and analyzing their structure and expression, revealing the presence of multiple exons and differential gene expression across different tissues.
- The research suggests that these annexins may influence plant growth and development during normal and stressful conditions, providing insights for further studies on their functions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!