Polygenic Risk Score Predicts Modified Risk in BRCA1 Pathogenic Variant c.4035del and c.5266dup Carriers in Breast Cancer Patients DOI Open Access
Egija Berga-Švītiņa, Jeļena Maksimenko, Edvīns Miklaševičs

et al.

Cancers, Journal Year: 2023, Volume and Issue: 15(11), P. 2957 - 2957

Published: May 28, 2023

The aim of this study was to assess the power polygenic risk score (PRS) in estimating overall genetic women carrying germline BRCA1 pathogenic variants (PVs) c.4035del or c.5266dup develop breast (BC) ovarian cancer (OC) due additional variations. In study, PRSs previously developed from two joint models using summary statistics age-at-onset (BayesW model) and case–control data (BayesRR-RC a genome-wide association analysis (GWAS) were applied 406 PV (c.4035del c.5266dup) carriers affected by BC OC, compared with unaffected individuals. A binomial logistic regression model used PRS OC development risk. We observed that best-fitting BayesW effectively predicted individual’s (OR = 1.37; 95% CI 1.03–1.81, p 0.02905 AUC 0.759). However, none good predictor best-fitted (BayesW) contributed assessing developing for may facilitate more precise timely patient stratification decision-making improve current treatment even prevention strategies.

Language: Английский

The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment DOI Creative Commons

Jarosław Matykiewicz,

Wioletta Adamus-Białek, Monika Wawszczak

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 13, 2025

The single nucleotide polymorphism in NOD2 (rs2066847) is associated with conditions that may predispose to the development of gastrointestinal disorders, as well known BRCA1 and BRCA2 variants classified risk factors many cancers. In our study, we analyzed these a group patients pancreatitis pancreatic cancer clarify their role disease development. DNA was isolated from whole blood samples 553 pancreatitis, 83 cancer, 44 cases other diseases, 116 healthy volunteers. (rs2066847), (rs80357914) (rs276174813) were genotyped. statistically significant 3-fold increased detected among rs2066847 (OR = 2.77, p-value 0.019). We did not find studied polymorphisms (rs276174813). However, adjacent have been only diseases. variant occurs more frequently significantly increases cancer. It can be considered genetic factor predisposes regions potential target further search for marker

Language: Английский

Citations

0
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ DOI Open Access
Sylwia Feszak, Igor Feszak, Wojciech Kluźniak

et al.

Cancers, Journal Year: 2025, Volume and Issue: 17(4), P. 613 - 613

Published: Feb. 11, 2025

Background/Objectives: Ductal carcinoma in situ (DCIS) is the most common non-invasive form of breast cancer. It not clear to what extent DCIS a part hereditary breast/ovarian cancer syndrome caused by BRCA1/2 mutations. Therefore, we investigated association mutations patients with and assessed their impact on survival. Methods: We studied 564 Polish women for six alleles BRCA1 (c.181T>G, c.5266dupC, c.4035delA, c.3700_3704del5, c.68_69del c.5251C>T) four BRCA2 (c.658_659del, c.3847_3848del, c.5946del c.7913_7917del). To investigate founder risk, tested 4702 controls as reference. analyze survival, mutation carriers were followed an average 110 months. Results: A was present seven (1.24%) cases twenty-two (0.47%) (OR = 3.27, 95%CI 1.36 7.87, p 0.01). eight (1.42%) versus (0.13%) 11.3, 3.9 32.6, < 0.0001). Three fifteen developed invasive ipsilateral or contralateral cancer, 6 years from diagnosis DCIS. There no deaths reported among 15 Conclusions: Women should receive genetic counseling testing may predispose better prognosis, but further studies are needed.

Language: Английский

Citations

0
Current Clinical Utility of Circulating Tumor DNA Testing in Breast Cancer: A Practical Approach DOI
Jing Xi, X. Cynthia, Joyce O’Shaughnessy

et al.

JCO Oncology Practice, Journal Year: 2024, Volume and Issue: 20(11), P. 1460 - 1470

Published: Nov. 1, 2024

Circulating tumor DNA (ctDNA) refers to fragments released from cancer cells into the bloodstream. Clinical utility of ctDNA in breast has been explored both metastatic (MBC) and early-stage (EBC) settings. In MBC, can detect therapeutically targetable genomic alterations shown great potential predicting treatment response or resistance. Accumulating data suggest that might also have prognostic value MBC. EBC, emerging ctDNA's predictive and/or neoadjuvant adjuvant Minimal residual disease (MRD) detection via clinical recurrence after curative therapy is a rapidly advancing field. this review, we discuss existing regarding MBC EBC

Language: Английский

Citations

2
Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China DOI

Yongmei Peng,

Jiaqian Liao, Xian He

et al.

European Journal of Cancer Prevention, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 8, 2024

Carriers with germline breast cancer 1/2 gene mutations (BRCAm) are likely to develop ovarian (OC). Therefore, identifying these may enable individualized therapy for OC and preventive measures reduce risk in BRCAm carrier families. Thus, we investigated the prevalence of patients from Yunnan Province Southwest China. In total, 674 unselected were enrolled tested via next-generation sequencing. Data on clinicopathological characteristics personal/family history collected. The rates pathogenic/likely pathogenic 26.6% overall, 20.8% among BRCA1m carriers, 5.5% BRCA2m 0.3% carriers both BRCA2m. most common mutation BRCA1 was c.5114T>C (n = 9). number significantly greater serous cancer, a personal tumor history, family hereditary (HBOC)-related tumors, bilateral tumors. this cohort 9) BRCA1. spectrum different those other groups. BRCA status testing is advised all patients, particularly HBOC.

Language: Английский

Citations

0
Leveraging Nanomaterials for Ultrasensitive Biosensors in Early Cancer Detection: A Review DOI

Drishti Khandelwal,

Anindya Bhattacharya, V. Valli Kumari

et al.

Journal of Materials Chemistry B, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 26, 2024

Recent advances in nanotechnology revolutionize cancer diagnostics, better than PET-scans and biopsies. Ultrasensitive nanobiosensors spot trace biomarkers effectively, allowing early, precise detection outcomes, altering care globally.

Language: Английский

Citations

0
Malignant transformation of the mature ovarian teratoma into early-stage ovarian adenocarcinoma: a case report with literature review DOI
Marta Monist,

Iwona Paśnik,

Marek Semczuk

et al.

Pathology - Research and Practice, Journal Year: 2024, Volume and Issue: 266, P. 155793 - 155793

Published: Dec. 28, 2024

Language: Английский

Citations

0
Diagnosis and treatment of patients with breast cancer and mutation in the BRCA1/2 genes DOI Open Access
Joanna Kufel-Grabowska, Bartosz Wasąg

Oncology in Clinical Practice, Journal Year: 2023, Volume and Issue: 20(3), P. 222 - 228

Published: Oct. 27, 2023

Breast cancer is the most common among women in Poland and worldwide, second only to lung terms of mortality. Germline mutations account for approximately 5–10% all breast cases, with BRCA1/2 genes being frequently identified. The presence pathogenic variants associated a more than 60% risk developing cancer, 40–60% ovarian BRCA1 mutation, 13–30% BRCA2 variant. often diagnosed at younger age mutation carriers. prevalence increased accessibility genetic testing, especially next-generation sequencing, lead higher number individuals healthy family members. Identifying variant genes, analyzing history, counseling enables development individual recommendations further management. This article aims present diagnostic therapeutic approach patients genes.

Language: Английский

Citations

1
Polygenic Risk Score Predicts Modified Risk in BRCA1 Pathogenic Variant c.4035del and c.5266dup Carriers in Breast Cancer Patients DOI Open Access
Egija Berga-Švītiņa, Jeļena Maksimenko, Edvīns Miklaševičs

et al.

Cancers, Journal Year: 2023, Volume and Issue: 15(11), P. 2957 - 2957

Published: May 28, 2023

The aim of this study was to assess the power polygenic risk score (PRS) in estimating overall genetic women carrying germline BRCA1 pathogenic variants (PVs) c.4035del or c.5266dup develop breast (BC) ovarian cancer (OC) due additional variations. In study, PRSs previously developed from two joint models using summary statistics age-at-onset (BayesW model) and case–control data (BayesRR-RC a genome-wide association analysis (GWAS) were applied 406 PV (c.4035del c.5266dup) carriers affected by BC OC, compared with unaffected individuals. A binomial logistic regression model used PRS OC development risk. We observed that best-fitting BayesW effectively predicted individual’s (OR = 1.37; 95% CI 1.03–1.81, p 0.02905 AUC 0.759). However, none good predictor best-fitted (BayesW) contributed assessing developing for may facilitate more precise timely patient stratification decision-making improve current treatment even prevention strategies.

Language: Английский

Citations

0