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View article: 26P Revisiting HER2-low in HR+/HER2− early breast cancer: Clinicopathological features and predictors for pathological response
26P Revisiting HER2-low in HR+/HER2− early breast cancer: Clinicopathological features and predictors for pathological response Open
View article: 39P HER2 status dynamics following neoadjuvant therapy in breast cancer: Impact on residual disease
39P HER2 status dynamics following neoadjuvant therapy in breast cancer: Impact on residual disease Open
View article: A111 CLINICAL AND PATHOLOGICAL OUTCOMES BETWEEN WATER EXCHANGE AND AIR INSUFFLATION USING NON-SEDATED EXTENDED FLEXIBLE SIGMOIDOSCOPY FOR AVERAGE RISK COLORECTAL CANCER SCREENING: PRELIMINARY FINDINGS FROM A RANDOMIZED CONTROL TRIAL
A111 CLINICAL AND PATHOLOGICAL OUTCOMES BETWEEN WATER EXCHANGE AND AIR INSUFFLATION USING NON-SEDATED EXTENDED FLEXIBLE SIGMOIDOSCOPY FOR AVERAGE RISK COLORECTAL CANCER SCREENING: PRELIMINARY FINDINGS FROM A RANDOMIZED CONTROL TRIAL Open
Background Colorectal cancer (CRC) is Canada's third most common cancer type and represents approximately 11% of all cancer deaths. While sedated colonoscopy or flexible sigmoidoscopy (FS) continues to be considered for CRC screening, thes…
View article: A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome
A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome Open
Collagen, the most abundant human protein, is a significant component of the extracellular matrix (ECM) in tissues and organs like skin, bone, ligaments, and tendons. Collagen secretion is a complex, multistage process involving many molec…
View article: The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of ahypermobile type of Ehlers-Danlos syndrome
The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of ahypermobile type of Ehlers-Danlos syndrome Open
Mutations in the SERPINH1 gene have been described in a rare type of OI but have never been analysed in hypermobile Ehlers-Danlos syndrome. In our investigation among 100 hEDS patients, we did not identify pathogenic or likely patho…
View article: Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men
Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men Open
Objectives: We tested the association of germline variants in BRCA1, BRCA2, CHEK2, CDKN2A, CYP1B1, HOXB13, MLH1, NBS1, NOD2 and PALB2 genes, as well as in 8q24 region, with prostate cancer (PC) risk and estimated their impact on disease cl…
View article: Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome
Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome Open
Background: Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the COL5A1 and COL5A2 genes, though c…
View article: Relationship Between Anti-DFS70 Autoantibodies and Oxidative Stress
Relationship Between Anti-DFS70 Autoantibodies and Oxidative Stress Open
Background: The anti-DFS70 autoantibodies are one of the most commonly and widely described agent of unknown clinical significance, frequently detected in healthy individuals. It is not known whether the DFS70 autoantibodies are protective…
View article: Analysis of the impact of sex and age on the variation in the prevalence of antinuclear autoantibodies in Polish population: a nationwide observational, cross-sectional study
Analysis of the impact of sex and age on the variation in the prevalence of antinuclear autoantibodies in Polish population: a nationwide observational, cross-sectional study Open
View article: Germline mutations among Polish patients with acute myeloid leukemia
Germline mutations among Polish patients with acute myeloid leukemia Open
Background A small but important proportion of patients (4–10 %) with AML have germline mutations. They can cause the development of AML at an earlier age, confer a higher risk of relapse or predispose to secondary leukemias, including the…
View article: Clinical significance of PON1 L55M, Q192R and I102V polymorphisms and their association with prostate cancer risk in Polish men
Clinical significance of PON1 L55M, Q192R and I102V polymorphisms and their association with prostate cancer risk in Polish men Open
We tested the association between PON1 L55M, Q192R and I102V polymorphic variants and PC risk in Polish men. DNA from 110 consecutive, newly diagnosed patients hospitalized because of PC and DNA from 110 men - volunteers, healthy at the ti…
View article: G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men
G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men Open
We tested the association between HOXB13 G84E (rs138213197) germline mutation and PC risk in Polish men. DNA from 103 consecutive, newly diagnosed patients hospitalised because of PC and DNA from 103 men: volunteers, healthy at the time of…
View article: New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome – analysis of nine cases
New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome – analysis of nine cases Open
Our study is the first COL5A1 gene molecular investigation conducted among cEDS patients from Central Eastern Europe. Besides new COL5A1 variant findings, we gained molecular confirmation of clinical diagnosis of cEDS. In som…
View article: Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients
Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients Open
In the present study, we analysed the association of mutations of a BRCA1-associated gene, ABRAXAS1, with the risk of development of breast cancer (BC) in BRCA1-negative women from North-Central Poland. A hundred women with consecutively d…
View article: Long-term survival and secondary procedures after open or endovascular repair of abdominal aortic aneurysms
Long-term survival and secondary procedures after open or endovascular repair of abdominal aortic aneurysms Open
View article: Quality of life from a randomized trial of open and endovascular repair for abdominal aortic aneurysm
Quality of life from a randomized trial of open and endovascular repair for abdominal aortic aneurysm Open
Background Long-term survival is similar after open or endovascular repair of abdominal aortic aneurysm. Few data exist on the effect of either procedure on long-term health-related quality of life (HRQoL) and health status. Methods Patien…
View article: Predicting reinterventions after open and endovascular aneurysm repair using the St George's Vascular Institute score
Predicting reinterventions after open and endovascular aneurysm repair using the St George's Vascular Institute score Open
View article: The germline mutations of the <i>CHEK2</i> gene are associated with an increased risk of polycythaemia vera
The germline mutations of the <i>CHEK2</i> gene are associated with an increased risk of polycythaemia vera Open
The molecular mechanisms underlying the development of myeloproliferative neoplasms (MPNs) are still not sufficiently well understood, although the association of MPNs pathogenesis with some gene alterations, especially somatic, have been …