In this article, we will present Lynch syndrome type I/HNPCC (hereditary non-polyposis colorectal cancer, the subtypes and generalities about Lynch syndrome type II, and the rarer variant, Muir-Torre Syndrome (MTS). In addition, we discuss the importance of suspecting this syndrome in endometrial cancer and the genetic testing needed to confirm this diagnosis.
The Homologous Recombination Deficiency (HRD) Score, determined by evaluating genomic instability through the assessment of loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST), serves as a crucial biomarker for identifying patients who might benefit from targeted therapies, such as PARP inhibitors (PARPi). This study aimed to investigate the efficacy of HRD testing in high-grade serous ovarian carcinoma, tubal, and peritoneal cancer patients who are negative for somatic BRCA1 and BRCA2 mutations and to evaluate the impact of HRD status on Bevacizumab and PARPi therapy response. A cohort of 100 Romanian female patients, aged 42–77, was initially selected. Among them, 30 patients had unsuitable samples for HRD testing due to insufficient tumor content or DNA integrity. Using the OncoScan C.N.V. platform, HRD testing was successfully performed on the remaining 70 patients, with 20 testing negative and 50 testing positive for HRD. Among the HRD-positive patients, 35 were eligible for and benefited from PARPi maintenance therapy, resulting in a median progression-free survival (PFS) increase from 4 months to 8.2 months. Our findings support the importance of HRD testing in ovarian cancer patients, demonstrating the potential therapeutic advantage of PARPi therapy in HRD-positive patients without somatic BRCA1/2 mutations.
Endometriosis represents a debilitating disease affecting women at fertile age which is associated with severe symptoms such as chronic pelvic pain, dysmenorrhea, dyspareunia and infertility. The pathogenesis of this disease is not fully understood so far, multiple theories being proposed. However, more recently, attention was focused on identifying the role of genetic factors in endometriosis development. In the current paper we aimed to review the most important theories regarding pathogenesis. Furthermore we discuss the genetic factors regarding this illness as well as other genes that are suspected to be culprits in leading to this pathology.
Checkpoint kinases (Chks) are serine/threonine kinases that are involved in the control of the cell cycle. Two subtypes have so far been identified, Chk1 and Chk2. They are essential components to delay cell cycle progression in all cells and act at all three cell cycle checkpoints. Here we provide more information regarding the CHEK2 gene and its role in breast cancer as well as known mutations that present a higher cancer risk.
Uterine fibroids represent the most commonly encountered benign tumors among women at childbearing age which might significantly influence their capacity of carring a normal pregnancy. Therefore, due to the significant impact which might be encountered, attention was focused on determining which are the most important risk factors for developing such lesions. In this respect, nowadays particular attention was given to genetic factors. In this article we discuss the implications of genetic chromosomal abnormalities as well as chromosomal rearrangements in the formation of fibroids. We also report diseases that should not be overlooked when differentially diagnosing leiomyomatosis (MCUL1 and HLRCC).
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