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Article: Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population.

Złowocka-Perłowska, Elżbieta / Tołoczko-Grabarek, Aleksandra / Lubiński, Jan

2022 Volume 20, Issue 1, Page(s) 1

Abstract: Introduction: The role of HOXB13 in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of HOXB13 p.G84E mutation in bladder and kidney cancer patients from Poland.: Materials and methods: 1418 patients with bladder ... ...

Abstract	Introduction: The role of HOXB13 in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of HOXB13 p.G84E mutation in bladder and kidney cancer patients from Poland. Materials and methods: 1418 patients with bladder cancer and 813 cases with kidney cancer and 4497 controls were genotyped for HOXB13 p.G84E. Results: p.G84E mutation of HOXB13 gene was detected in three of 1418 (0.2%) bladder cancer cases and in six of 4497 controls (odds ratio [OR], 1.6; 95% CI 0.39-6.36; p = 0.8). Among 813 kidney cancer cases HOXB13 mutations was reported in three patients (0,4%) (odds ratio [OR], (OR = 2,8; 95% CI 0.69-11.11; p = 0.3). In cases with mutations in the HOXB13 gene, the family history of cancer was negative. Conclusion: HOXB13 mutation was not associated with bladder or kidney cancer. Mutation p.G84E in HOXB13 seem not to play a role in bladder and kidney cancer development in Polish patients.
Language	English
Publishing date	2022-01-04
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-021-00208-8
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Article: Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.

Złowocka-Perłowska, Elżbieta / Tołoczko-Grabarek, Aleksandra / Narod, Steven A / Lubiński, Jan

Hereditary cancer in clinical practice

2022 Volume 20, Issue 1, Page(s) 13

Abstract: Introduction: The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C5972T) mutations in bladder ...

Abstract	Introduction: The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C5972T) mutations in bladder and kidney cancer patients from Poland. Materials and methods: We genotyped 1028 patients with bladder cancer and 688 cases with kidney cancer and two control groups. Results: A BRCA1 mutation (all variants combined) was detected in peripheral blood leukocytes in 5 out of 1028 (0.5%) bladder cases and in 17 of 4000 controls (0.4%) (odds ratio [OR], (OR = 1.1; 95% CI 0.42-3.11; p = 1.0). Among 688 unselected kidney cancer cases a BRCA1 mutations was reported in three patients (0.4%) (OR = 1.0; 95% CI 0.29-3.51; p = 1.0). The mutation C5972T in BRCA2 was observed in 54 bladder cancer patients (5.2%) and in 159 of 2791 healthy controls (5.7%) (OR = 0.9; 95% CI 0.66-1.26; p = 0.6). Fifty kidney cancer cases carried a BRCA2 mutation (7.3%) (OR = 1.3; 95% CI 0.93-1.80; p = 0.1). Conclusion: In conclusion, we found no difference in the prevalence of BRCA1 and BRCA2 founder mutations between cases and healthy controls. The mutations BRCA1 and BRCA2 seem not to play a role in bladder and kidney cancer development in Polish patients.
Language	English
Publishing date	2022-04-08
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-022-00220-6
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Article ; Online: Bladder cancer survival in patients with

Złowocka-Perłowska, Elżbieta / van de Wetering, Thierry / Tołoczko-Grabarek, Aleksandra / Scott, Rodney J / Lubiński, Jan

Oncotarget

2022 Volume 13, Page(s) 628–640

Abstract: Purpose: The association between the : Materials and methods: We compared the allele frequencies of : Results: Among the three patient subgroups: patients under 60 years of age, non-smokers and a third with histological features of low grade ... ...

Abstract	Purpose: The association between the Materials and methods: We compared the allele frequencies of Results: Among the three patient subgroups: patients under 60 years of age, non-smokers and a third with histological features of low grade noninvasive papillary bladder cancer, we observed that the c.3020insC allele had a nominal statistically significant effect on survival. We also observed that the Conclusion: We have shown that the
MeSH term(s)	Aged ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Genetic Predisposition to Disease ; Humans ; Kidney Neoplasms ; Middle Aged ; Nod2 Signaling Adaptor Protein/genetics ; Urinary Bladder ; Urinary Bladder Neoplasms/genetics
Chemical Substances	CDKN2A protein, human ; Cyclin-Dependent Kinase Inhibitor p16 ; NOD2 protein, human ; Nod2 Signaling Adaptor Protein
Language	English
Publishing date	2022-04-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2560162-3
ISSN	1949-2553 ; 1949-2553
ISSN (online)	1949-2553
ISSN	1949-2553
DOI	10.18632/oncotarget.28226
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Article: Preoperative Serum Levels of PDGF-AB, PDGF-BB, TGF-α, EGF and ANG-2 in the Diagnosis of Endometrial Cancer.

Kozłowski, Mateusz / Borzyszkowska, Dominika / Mirko, Justyna / Turoń-Skrzypińska, Agnieszka / Piotrowska, Katarzyna / Tołoczko-Grabarek, Aleksandra / Kwiatkowski, Sebastian / Tarnowski, Maciej / Rotter, Iwona / Cymbaluk-Płoska, Aneta

Cancers

2023 Volume 15, Issue 19

Abstract: 1) Background: It is relevant to find new diagnostic biomarkers for endometrial cancer. This study aimed to investigate whether PDGF-AB, PDGF-BB, TGF-α, EGF and ANG-2 could be considered new useful markers for diagnosis and survival of endometrial ... ...

Abstract	(1) Background: It is relevant to find new diagnostic biomarkers for endometrial cancer. This study aimed to investigate whether PDGF-AB, PDGF-BB, TGF-α, EGF and ANG-2 could be considered new useful markers for diagnosis and survival of endometrial cancer. (2) Methods: A total of 93 women diagnosed with endometrial cancer (EC) and 66 patients with non-cancerous endometrial lesions (NCEL) were included in this study. (3) Results: Median serum levels of PDGF-AB, PDGF-BB, TGF-α, EGF and ANG-2 were significantly higher in the EC group compared to the NCEL group (for PDGF-AB, PDGF-BB, TGF-α and ANG-2,
Language	English
Publishing date	2023-09-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers15194815
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Article: Influence of Muscle Mass and Strength on Bone Mineralisation with Consideration of Sclerostin Concentration.

Patalong-Wójcik, Martyna / Golara, Anna / Zając, Katarzyna / Sokołowska, Alicja / Kozłowski, Mateusz / Tołoczko-Grabarek, Aleksandra / Krzyścin, Mariola / Brodowska, Agnieszka / Janiec, Agnieszka / Myszka, Aleksandra / Cymbaluk-Płoska, Aneta / Sowińska-Przepiera, Elżbieta

Biomedicines

2023 Volume 11, Issue 6

Abstract: Osteoporosis is a disease characterised by a reduction in bone strength due to increased porosity and impaired mineralisation. In our study, we investigated whether muscle strength and mass exert a significant effect on bone mineral density in young ... ...

Abstract	Osteoporosis is a disease characterised by a reduction in bone strength due to increased porosity and impaired mineralisation. In our study, we investigated whether muscle strength and mass exert a significant effect on bone mineral density in young adult women. We also tested whether sclerostin can be used as an indicator in the assessment of bone mineralisation. The study included 111 patients. All patients had their bone mineral density determined in the L1-L4 section of the lumbar spine and in the whole skeleton. The parameters of fat mass (FM), lean body mass (LBM) and visceral fat mass (VF) were also determined. Metabolic activity of osteocytes was assessed by measuring the serum sclerostin concentration. There was a statistically significant association of both hands' muscle strength with all parameters expressing bone mineralisation. A statistically significant relationship was also obtained between BMD L1-L4 and the body mass components (FM, LBM). Sclerostin levels in the study did not differ between groups with normal and reduced bone mineral density. Muscle strength assessment may be a potential exponent of reduced bone mineral density, also used clinically in young adult women. The utility of sclerostin in the clinical assessment of bone mineralisation has not been demonstrated.
Language	English
Publishing date	2023-05-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11061574
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Article: Pilot Study: FSHR Expression in Neuroendocrine Tumors of the Appendix.

Starzyński, Dariusz / Rzeszotek, Sylwia / Kolasa, Agnieszka / Grabowska, Marta / Wiszniewska, Barbara / Kudrymska, Aleksandra / Karpińska, Katarzyna / Tołoczko-Grabarek, Aleksandra / Janiec, Agnieszka / Myszka, Aleksandra / Rynio, Paweł / Syrenicz, Anhelli / Sowińska-Przepiera, Elżbieta

Journal of clinical medicine

2023 Volume 12, Issue 15

Abstract: Appendix neuroendocrine neoplasm (ANEN) treatment is based on tumor size and proliferation markers. Recently, the role of the follicle-stimulating hormone receptor (FSHR) from the clinical perspective has also been increasingly discussed. The FSHR is ... ...

Abstract	Appendix neuroendocrine neoplasm (ANEN) treatment is based on tumor size and proliferation markers. Recently, the role of the follicle-stimulating hormone receptor (FSHR) from the clinical perspective has also been increasingly discussed. The FSHR is expressed in the endothelial cells of both intratumoral and peritumoral blood vessels, where it contributes to neoangiogenesis and blood vessel remodeling. FSHR expression is associated with a range of tumor types, such as gastrointestinal tumors, and it is not detected in healthy tissues located more than 10 mm from the tumor site or in tumor lymphatics. In this study, we evaluated the expression of FSHR and CD31 in the blood vessels of ANENs in females and males with confirmed histopathology. We conducted a quantitative analysis of the immunohistochemical reactions and found a higher number of microvessels in the mucosa and submucosa of neuroendocrine tumors in the appendix. A higher level of FSHR expression was observed in women. Future research should consider whether an elevated number of blood vessels along with a strong pattern of FSHR expression may influence future treatment strategies.
Language	English
Publishing date	2023-08-02
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12155086
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Article: Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.

Ogrodniczak, Alicja / Menkiszak, Janusz / Gronwald, Jacek / Tomiczek-Szwiec, Joanna / Szwiec, Marek / Cybulski, Cezary / Dębniak, Tadeusz / Huzarski, Tomasz / Tołoczko-Grabarek, Aleksandra / Byrski, Tomasz / Białkowska, Katarzyna / Prajzendanc, Karolina / Baszuk, Piotr / Lubiński, Jan / Jakubowska, Anna

Hereditary cancer in clinical practice

2022 Volume 20, Issue 1, Page(s) 11

Abstract: Background: There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence ... ...

Abstract	Background: There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods: The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-grade ovarian cancer, as well as the association of tested mutations with survival, was estimated. Results: The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival. Mutations in BRCA1 and PALB2 were associated with a high risk of ovarian cancer G1 (OR=8.53, p=0.005 and OR=7.03, p=0.03, respectively) and were related to worse all-cause survival for BRCA1 carriers (HR=4.73, 95%CI 1.45-15.43, p=0.01). Conclusions: Results suggest that CHEK2 (c.470T>C) may possibly play a role in the pathogenesis of BOT, but due to the low number of BOT patients, obtained results should be considered as preliminary. Larger more in-depth studies are required.
Language	English
Publishing date	2022-03-21
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-022-00218-0
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Article ; Online: Survival of bladder or renal cancer in patients with CHEK2 mutations.

Złowocka-Perłowska, Elżbieta / Dębniak, Tadeusz / Słojewski, Marcin / van de Wetering, Thierry / Tołoczko-Grabarek, Aleksandra / Cybulski, Cezary / Scott, Rodney J / Lubiński, Jan

PloS one

2021 Volume 16, Issue 9, Page(s) e0257132

Abstract: Purpose: The purpose of this study was to compare the clinical characteristics and the survival of CHEK2 mutation positive and CHEK2 mutation negative patients diagnosed with bladder or kidney cancer.: Materials and methods: 1016 patients with ... ...

Abstract	Purpose: The purpose of this study was to compare the clinical characteristics and the survival of CHEK2 mutation positive and CHEK2 mutation negative patients diagnosed with bladder or kidney cancer. Materials and methods: 1016 patients with bladder and 402 cases with kidney cancer and 8302 controls were genotyped for four CHEK2 variants: 1100delC, del5395, IVS2+1G>A and I157T. Predictors of survival were determined among CHEK2 pathogenic variant carriers using the Cox proportional hazards model. The median follow-up was 17.5 years. Covariates included age (≤60; >61 years), sex (female; male), clinical characteristics (stage: TNM, grade, histopathological type), smoking status (non-smoking; smoking) and cancer family history (negative; positive). Results: We found no impact of CHEK2 mutations on bladder or kidney cancer survival. However, we observed a possible increased survival in the subgroup of patients with stage T1 bladder cancer with CHEK2 mutations but this did not meet statistical significance (HR = 0.14; 95% CI 0.02-1.04; p = 0.055). Moreover, we observed that the missense mutations were more frequent in the low grade invasive bladder cancer patient group (OR = 7.9; 95% CI 1.50-42.1; p = 0.04) and in patients with bladder cancer with stage Ta (OR = 2.4; 95% CI 1.30-4.55; p = 0.006). The different results where missense mutations occurs less often we observed among patients with high grade invasive bladder cancer (OR = 0.12; 95% CI 0.02-0.66; p = 0.04) and those with stage T1 disease (OR = 0.2; 95% CI 0.07-0.76; p = 0.01). Our investigations revealed that any mutation in CHEK2 occurs more often among patients with stage Ta bladder cancer (OR = 2.0; 95% CI 1.19-3.47; p = 0.01) and less often in patients with stage T1 disease (OR = 0.31; 95% CI 0.12-0.78; p = 0.01). In the kidney cancer patients, truncating mutations were present more often in the group with clear cell carcinoma GII (OR = 8.0; 95% CI 0.95-67.7; p = 0.05). The 10-year survival for all CHEK2 mutation carriers with bladder cancer was 33% and for non-carriers 11% (p = 0.15). The 10-year survival for CHEK2 mutation carriers with kidney cancer 34% and for non-carriers 20% (p = 0.5). Conclusion: CHEK2 mutations were not associated with any change in bladder or kidney cancer survival regardless of their age, sex, smoking status and family history. We observed a potentially protective effect of CHEK2 mutations on survival for patients with stage T1 bladder cancer. CHEK2 missense mutations were more common among patients with low grade invasive bladder cancer and in patients with stage Ta diease. The frequencies of the I157T CHEK2 pathogenic variant were less in patients with high grade invasive bladder cancer and those with stage T1 disease. Among patients with bladder cancer with stage Ta disease, the OR for any mutation in CHEK2 was 2.0 but for those with stage T1 disease, the OR was 0.3. We observed truncating CHEK2 mutations were associated with kidney cancer patients with GII clear cell carcinoma.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Alleles ; Checkpoint Kinase 2/genetics ; Female ; Humans ; Kaplan-Meier Estimate ; Kidney Neoplasms/enzymology ; Kidney Neoplasms/genetics ; Male ; Middle Aged ; Mutation/genetics ; Survival Analysis ; Urinary Bladder Neoplasms/enzymology ; Urinary Bladder Neoplasms/genetics
Chemical Substances	Checkpoint Kinase 2 (EC 2.7.1.11) ; CHEK2 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2021-09-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0257132
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Article: Recurrent Mutations in

Cancers

2021 Volume 13, Issue 4

Abstract: The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations ... ...

Abstract	The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in
Language	English
Publishing date	2021-02-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13040849
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Article ; Online: Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer

Tołoczko-Grabarek Aleksandra / Sikorski Andrzej / Brzosko Marek / Lubiński Jan

Hereditary Cancer in Clinical Practice , Vol 3, Iss 3, Pp 129-

2005 Volume 134

Abstract: Abstract Renal clear cell carcinomas represent about 3% of all visceral cancers and account for approximately 85% of renal cancers in adults. Environmental and genetic factors are involved in the development of renal cancer. Although to date there are 19 ...

Abstract	Abstract Renal clear cell carcinomas represent about 3% of all visceral cancers and account for approximately 85% of renal cancers in adults. Environmental and genetic factors are involved in the development of renal cancer. Although to date there are 19 hereditary syndromes described in which renal cell cancer may occur, only four syndromes with an unequivocal genetic predisposition to renal cell carcinoma have been identified: VHL syndrome (mutations in the VHL gene), hereditary clear cell carcinoma (translocations t(3:8), t(2:3)), hereditary papillary carcinoma (mutations in the MET protooncogene) and tuberous sclerosis (mutations in the TSC1 and TSC2 genes). Little is known genetically about the other forms of familial renal cell cancer. Since there is a growing awareness about the necessity of early intervention, clinical criteria have been developed that aid in the identification of hereditary forms of renal cancer. The aim of the current study was to identify minimal inclusion criteria so that nuclear pedigree families can be ascertained for risk assessment and/or kidney tumour screening. The results reveal that inclusion features described herein, such as (a) renal clear cell cancer diagnosed before 55 years of age, and (b) renal clear cell cancer and gastric cancer or lung cancer among first degree relatives, are useful in identifying suspected hereditary clear cell renal cancer patients.
Keywords	hereditary clear cell renal cancer ; diagnostic criteria ; nuclear families ; Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	616 ; 610
Language	English
Publishing date	2005-08-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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