Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis. The fertility of BRCA carriers, however, has not been widely investigated. The aim of the present work is to review the literature pertaining to this issue.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.fertnstert.2017.12.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Activity of Platinum Chemotherapy in Men With Prostate Cancer With and Without DNA Damage Repair Mutations.
Clin Genitourin Cancer
December 2024
University of Colorado Cancer Center, Aurora, CO.
Introduction: Alterations in homologous recombination repair (HRR) genes occur in 20%-30% of men with metastatic castration-resistant prostate cancer (mCRPC) which may increase sensitivity to platinum chemotherapy. Specifically, exceptional responses to platinum chemotherapy have been reported among patients with BRCA mutations. This study aimed to evaluate the efficacy of platinum chemotherapy in patients with mCRPC with and without HRR.
View Article and Find Full Text PDFThe Synergistic Effect of PARP Inhibitors and Irinotecan in Small Cell Lung Cancer Cells.
Cancer Res Treat
January 2025
Cancer Research Institute, Seoul National University, Seoul, Korea.
Purpose: This study focused on combining irinotecan with Poly (ADP-ribose) polymerase (PARP) inhibitors to explore the potential for novel combination therapeutics in small cell lung cancer (SCLC).
Materials And Methods: We selected 10 different SCLC cell lines with diverse mutational backgrounds in DNA damage response (DDR) pathway genes to evaluate the efficacy of the combination of three PARP inhibitors and irinotecan. After the cells were exposed to the drugs for seven days, cell viability was measured, and a combination index was calculated.
Molecular heterogeneity and MYC dysregulation in triple-negative breast cancer: genomic advances and therapeutic implications.
3 Biotech
January 2025
School of Health Sciences and Technology (SoHST), UPES, Dehradun, Uttarakhand 248007 India.
Triple-negative breast cancer (TNBC) is characterized by a diverse range of molecular features that have been extensively studied. MYC plays a critical role in regulating metabolism, differentiation, proliferation, cell growth, and apoptosis. Dysregulation of MYC is associated with poor prognosis and contributes to the development and progression of breast cancer.
View Article and Find Full Text PDFIdentification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.
Mol Biol Rep
January 2025
Department of Clinical Pathology, San Giovanni Addolorata Hospital, Rome, Italy.
Background: Ovarian Cancer is one of the leading causes of cancer death among women worldwide and the therapeutic landscape to treat it is constantly evolving. One of the major points of decision for the treatment choice is the presence of some genomic alterations that could confer sensitivity to the new available therapies including inhibitors of poly (ADP-ribose) polymerase (PARPi) with BRCA1 and 2 genes playing the most important role.
Methods And Results: We performed the search for any somatic and/or germline alteration in patient's samples by next generation sequencing (NGS).
Molecular Subgroups of HRD Positive Ovarian Cancer and Their Prognostic Significance.
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 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!