scholarly journals Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Elżbieta Złowocka-Perłowska ◽  
Tadeusz Dębniak ◽  
Marcin Słojewski ◽  
Artur Lemiński ◽  
Michał Soczawa ◽  
...  
Keyword(s):  
Family History ◽  
Cancer Patients ◽  
Kidney Cancer ◽  
Odds Ratio ◽  
Cancer Development ◽  
Healthy Controls ◽  
Polish Population ◽  
Cancer Family ◽  
Cancer Family History

Introduction The role of PALB2 in carcinogenesis remains to be clarified. Our main goal was to determine the prevalence of PALB2 (509_510delGA and 172_175delTTGT) mutations in bladder and kidney cancer patients from Polish population. Materials and methods 1413 patients with bladder and 810 cases with kidney cancer and 4702 controls were genotyped for two PALB2 variants: 509_510delGA and 172_175delTTGT. Results Two mutations of PALB2 gene were detected in 5 of 1413 (0.35%) unselected bladder cases and in 10 of 4702 controls (odds ratio [OR], 1.7; 95% CI 0.56–4.88; p = 0.52). Among 810 unselected kidney cancer cases two PALB2 mutations were reported in two patients (0,24%) (odds ratio [OR], (OR = 1.2; 95% CI 0.25–5.13; p = 0.84). In cases with mutations in PALB2 gene cancer family history was negative. Conclusion We found no difference in the prevalence of recurrent PALB2 mutations between cases and healthy controls. The mutations in PALB2 gene seem not to play a major role in bladder and kidney cancer development in Polish patients.

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

2022 ◽  
Vol 20 (1) ◽  
Author(s):  
Elżbieta Złowocka-Perłowska ◽  
Aleksandra Tołoczko-Grabarek ◽  
Jan Lubiński
Keyword(s):  
Bladder Cancer ◽  
Family History ◽  
Kidney Cancer ◽  
Odds Ratio ◽  
Cancer Development ◽  
Polish Population ◽  
The Family ◽  
History Of ◽  
History Of Cancer

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.

The role of phase I and II genetic polymorphisms, smoking, alcohol and cancer family history, in the risk of developing testicular cancer

2019 ◽  
Vol 29 (7) ◽  
pp. 159-166 ◽  
Author(s):  
Angela Roco ◽  
Alejandra Lavanderos ◽  
Juan P. Cayún ◽  
Cristian Acevedo ◽  
Cesar Celedón ◽  
...  
Keyword(s):  
Family History ◽  
Testicular Cancer ◽  
Phase I ◽  
Genetic Polymorphisms ◽  
Cancer Family ◽  
Cancer Family History ◽  
Phase I And Ii

scholarly journals A Single Nucleotide Polymorphism in the MMP9 Promoter Affects Lung Cancer and Clinicopathological Properties in Iranian Population

2021 ◽  
Vol 2 (12) ◽  
pp. 1274-1282
Author(s):  
Somayeh Taghvaei ◽  
Leila Saremi ◽  
Majid Motovali-bashi
Keyword(s):  
Lung Cancer ◽  
Family History ◽  
Cancer Patients ◽  
Odds Ratio ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Healthy Controls ◽  
Lung Cancer Patients ◽  
Control Study

Background: Lung cancer is the most common cancer with 2,206,771 new cases in 2020 in worldwide. MMP9 is a member of matrix metalloproteinase family that is also known as gelatinase B or IV type collagenase (92KD). MMP9 through degrading of Extracellular Matrix (ECM) and releasing of growth factors has fundamental role in the tumorigenesis process. The C -1562 T SNP in the MMP9 promoter increases MMP9 expression and susceptibility to lung cancer. Then, the aim of this present case-control study was to investigate whether genetic variations of the MMP9 gene may constitute markers for lung cancer risk in males and in positive family history people in Iran. Methods: This is a case-control study including 120 lung cancer patients and 100 healthy controls. Polymorphism in the C -1562 T region was genotyped by PCR-RFLP assay. Odds Ratio (ORs) and 95% Confidence Intervals (CIs) were estimated by chi-square test from comparison of genotypes between lung cancer patients and healthy controls, using SPSS version 26.0. T-test and Image J software was also used. Results: The distribution of C-1562T genotype was significantly associated with the risk of lung cancer (Odds Ratio [OR] = 2.56, 95% Confidence Interval [CI] = 0.06-23.82). The further stratification analyses shown that males and patients with positive family history may increase risk of lung cancer. Conclusion: Our results indicated that the MMP9 C -1562 T polymorphism affects risk of lung cancer. In addition, men with T allele (OR = 3.94, CI = 1.47-10`.55) and patients with TT genotype and family history (OR = 2.18, CI = 1.03-4.59) exposure to higher risk of lung cancer.

scholarly journals Survival of Bladder or Renal Cancer in Patients With CHEK2 Mutations

2020 ◽  
Author(s):  
Elżbieta Złowocka-Perłowska ◽  
Tadeusz Dębniak ◽  
Marcin Słojewski ◽  
Artur Lemiński ◽  
Michał Soczawa ◽  
...  
Keyword(s):  
Family History ◽  
Kidney Cancer ◽  
Cancer Survival ◽  
Proportional Hazards Model ◽  
Smoking Status ◽  
Cox Proportional Hazards ◽  
Cox Proportional Hazards Model ◽  
Cancer Family ◽  
Cancer Family History ◽  
Truncating Mutation

Abstract Purpose: The purpose of this study was to compare the survival of CHEK2 mutations positive and CHEK2 mutations negative patients with bladder or kidney cancer. Materials and methods: 1419 patients with bladder and 835 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 carriers using the Cox proportional hazards model. The median follow-up was 17 years. Covariates included age (≤65; >66), smoking status (non-smoking; smoking), cancer family history (negative; positive) and gender (females; males). Results: Of the 1419 bladder patients enrolled in the study, 118 (8.32%) carried a CHEK2 mutation (all variants combined) (OR=1.4; 95% CI 1.17–1.78; p=0.0006), including 25 (1.76%) cases with a truncating mutation (OR=1.84; 95% CI, 1.17-2.89; p=0.01) and 93 (6.55%) patients with a missense mutation (OR=1.35; 95% CI, 1.07-1.7; p=0.01). We found no impact of CHEK2 mutations on bladder or kidney cancer survival. The 10-year survival for all CHEK2 mutation for bladder cancer carriers was 19% and for non-carriers was 13% (p=0.7). The 10-year survival for kidney cancer carriers was 6% and for non-carriers was 4% (p=0.9). Conclusion: We found no impact of CHEK2 mutations on bladder or kidney cancer survival regardless of their age, sex, cancer family history and smoking status.

Descriptive analysis of BRCA-associated cancer family history among Japanese prostate cancer patients

2019 ◽  
Vol 18 (1) ◽  
pp. e1808
Author(s):  
Y. Ishiyama ◽  
M. Shimbo ◽  
G. Deshpande ◽  
J. Iizuka ◽  
K. Tanabe ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Cancer Patients ◽  
Descriptive Analysis ◽  
Cancer Family ◽  
Cancer Family History

scholarly journals The Association of Adiponectin and AdipoR1 Polymorphism rs1342387 in Some Obesity-related Cancers in Kurdistan Iraq

2021 ◽  
pp. 243-253
Author(s):  
Mahmood Khaleel ◽  
Shereen Al-Ali ◽  
Baker Shalal Habeeb
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Body Mass Index ◽  
Adipose Tissue ◽  
Cancer Patients ◽  
Significant Negative Correlation ◽  
Cancer Development ◽  
Healthy Controls ◽  
Medical Facilities

Background: Adiponectin (APN) is a novel hormone produced mainly by white adipose tissue that contribute to various physiological functions. APN has been related to cancer development specially the ones related to obesity such as breast cancer (BC) and colorectal cancer (CRC). Therefore, it also has been related body mass index (BMI). This study aims to investigate the role of APN and AdipoR1 polymorphism rs1342387 in some obesity-related cancer patients living in Erbil province (Kurdistan-Iraq). Method: The study includes 82 subjects (66 cancer patients, 16 healthy controls) from 4 medical facilities in Erbil, all participants were subjected to a questionnaire and signed a consent form before taking the samples. The serum level of APN was estimated by ELISA and the  AdipoR1 polymorphism (rs1342387) was detected by RFLP-PCR. Results: The results showed that the prevalence of BC cases were more than CRC cases. Furthermore, females were the dominant sex in BC. Moreover, the level of APN was significantly decreased in obesity-related cancer groups (BC, CRC) in compare to HC. Regarding APN correlation with BMI the results showed a weak non-significant negative correlation. The attempt to investigate the genotype of Kurdish people showed the frequency of GG genotype among Kurdish people but the recessive AA genotype showed more effects on decreasing the level of APN despite the non-significant results. Conclusion: This study is the first to investigate AdipoR1 polymorphism and its correlation to obesity-related cancers in Kurdistan-Iraq and although GG was the more frequent genotype, AA was more effective on APN levels in obesity-related cancers.

scholarly journals What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care?

2019 ◽  
Vol 28 (2) ◽  
pp. 213-221 ◽  
Author(s):  
Jude E. Cléophat ◽  
Ana Marin ◽  
Sylvie Pelletier ◽  
Yann Joly ◽  
Pierre Gagnon ◽  
...  
Keyword(s):  
Palliative Care ◽  
Genetic Testing ◽  
Family History ◽  
Cancer Patients ◽  
Cancer Family ◽  
Cancer Family History
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