Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.annonc.2023.10.119 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
BRCA2 germline mutation carrier with five malignancies: a case report.
Hered Cancer Clin Pract
December 2024
Department of Medical Oncology, Cantonal Hospital Lucerne, Spitalstrasse 16, Lucerne, 6000, Switzerland.
Background: BRCA2 germline mutations are known to predispose carriers to various cancer types, including breast, ovarian, pancreatic and prostate cancer. An association with melanoma has also been reported. However, the full tumour spectrum associated with BRCA2 mutations, particularly in patients with other concurrent pathogenetic mutations, is unexplored.
View Article and Find Full Text PDFAlu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.
Cancers (Basel)
November 2024
Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.
Background/objective: Large genomic rearrangements of gene, particularly deletions and duplications, have been linked to hereditary breast-ovarian cancer. Our research specifically focuses on delineating the intronic breakpoints associated with rearrangements of exon 11, which is crucial for understanding the mechanisms underlying these genomic changes in patients with hereditary breast and ovarian syndrome.
Methods: By using next-generation sequencing, we identified one duplication and three deletions of exon 11, confirmed by Multiplex Ligation-Dependent Probe Amplification analysis.
Response to Carboplatin and Paclitaxel in the treatment of hereditary breast ovarian cancer syndrome (HBOC): a case report.
J Pak Med Assoc
December 2024
Department of Vascular Surgery, Combined Military Hospital, Lahore, Pakistan.
The co-occurrence of primary breast cancer and primary ovarian cancer is an exceptional hereditary phenomenon and results from inherent mutations in critical genes like BRCA1/2, PALB2, TP53, CHEK1, and ATM. We present here a unique case of hereditary breast-ovarian cancer syndrome (HBOC) reported in Combined Military Hospital, Lahore, Pakistan. It was marked by pathogenic variants in RAD51D, PALB2, CHEK1, and TP53 genes.
View Article and Find Full Text PDFMayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education.
Mayo Clin Proc
November 2024
Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. Electronic address:
Objective: To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.
Patients And Methods: Between July 1, 2020, and May 31, 2024, we invited 1,287,608 adult Mayo Clinic patients to participate in Tapestry. Of those contacted, 114,673 patients were consented and 98,222 (65.
Pattern Anlysis of Risk-Reducing Strategies in Unaffected Korean Mutation Carriers.
Curr Oncol
November 2024
Department of Surgery, Daerim St. Mary's Hospital, Seoul 07442, Republic of Korea.
The lifetime risk of breast and ovarian cancer increases substantially for individuals with mutations in . The evidence indicates that mutation carriers benefit from early cancer detection and prevention strategies. However, data on the patterns of risk-reducing interventions are lacking.
View Article and Find Full Text PDFWant 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!