Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role of GPVs in 17 other FA genes remains unclear.
Methods: Here, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk.
Results: The frequency of truncating GPVs in FANCG did not differ between BC (20/10,204; 0.20%) and OC (8/2966; 0.27%) patients compared to controls (6/3250; 0.18%). In addition, only one out of five tumor samples showed loss-of-heterozygosity of the wild-type FANCG allele. Finally, none of the nine functionally tested rare recurrent missense FANCG variants impaired DNA repair activities (FANCD2 monoubiquitination and FANCD2 foci formation) upon DNA damage, in contrast to all tested FANCG truncations.
Conclusion: Our study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11327753 | PMC |
| http://dx.doi.org/10.1002/cam4.70103 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinicopathologic and molecular characterization of primitive neuroectodermal tumors (PNET) in the female genital tract: a retrospective study of 8 cases.
Hum Pathol
March 2025
Department of Surgical Pathology and Center for Uterine Cancer Diagnosis & Therapy Research of Zhejiang Province, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China; Zhejiang Provincial Key Laboratory of Precision Diagnosis and Therapy for Major Gynecologic
Aims: This study aimed to investigate the molecular alterations in primitive neuroectodermal tumors (PNET) of the female genital tract.
Methods: We retrospectively analyzed the clinicopathologic and immunohistochemical features of 8 gynecologic PNET cases (3 cervical, 1 vaginal, and 4 ovarian). Fluorescence in situ hybridization and targeted next-generation sequencing (NGS) were performed to identify molecular alterations in these tumors.
Novel De Novo Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Int J Mol Sci
March 2025
Immunopathology and Cancer Biomarkers Unit, Centro di Riferimento Oncologico di Aviano (CRO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 33081 Aviano, Italy.
Ovarian cancer (OC) is a highly heterogeneous malignancy, often characterized by complex genomic alterations that drive tumor progression and therapy resistance. In this paper, we report a novel de novo germline variant NM_000059.3:c.
View Article and Find Full Text PDFGenomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.
Surg Case Rep
August 2024
Shizuoka Cancer Center, 1007 Shimonagakubo, Nagaizumi-Cho, Sunto-Gun, Shizuoka, 411-8777, Japan.
Background: Esophageal carcinosarcoma (ECS) is a relatively rare malignancy, accounting for < 1% of all esophageal cancers. Its etiopathogenesis remains unknown. This study analyzed the genomic abnormalities in sarcomatous tumors from two patients undergoing subtotal esophagectomy using whole genome sequencing to elucidate the key characteristics of ECS.
View Article and Find Full Text PDFA comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
Cancer Med
August 2024
Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Article Synopsis
- Monoallelic germline pathogenic variants in certain Fanconi anemia genes are known to increase breast and ovarian cancer risk, but the effects of variants in FANCG/XRCC9 remain unclear.
- Researchers found that the frequency of truncating variants in FANCG did not significantly differ between breast cancer, ovarian cancer patients, and controls.
- The study concludes that heterozygous germline FANCG variants are unlikely to play a role in developing breast or ovarian cancer.
Genome-wide association study identifies genomic regions associated with key reproductive traits in Korean Hanwoo cows.
BMC Genomics
May 2024
Department of Biotechnology, Yeungnam University, Gyeongsan, Gyeongbuk, 38541, Korea.
Background: Conducting genome-wide association studies (GWAS) for reproductive traits in Hanwoo cattle, including age at first calving (AFC), calving interval (CI), gestation length (GL), and number of artificial inseminations per conception (NAIPC), is of paramount significance. These analyses provided a thorough exploration of the genetic basis of these traits, facilitating the identification of key markers for targeted trait improvement. Breeders can optimize their selection strategies, leading to more efficient and sustainable breeding programs, by incorporating genetic insights.
View Article and Find Full Text PDF