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.

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.

Plot and Theme in the Book of Ruth

2018 ◽  
Author(s):  
J. Andrew Dearman
Keyword(s):  
Family History ◽  
Short Story ◽  
Narrative Analysis ◽  
National History ◽  
The Family ◽  
History Of ◽  
The Town

This chapter explores plot and theme in the book of Ruth as an example of narrative analysis. The book is identified as a short story with a dilemma facing the family of Elimelech from the town of Bethlehem and the tribe of Judah. The family history of Elimelech and the role of the Moabite Ruth in it are examined first as a self-contained narrative and then in the context of Israel’s national history. The family dilemma is resolved with the birth of an heir for the family of Elimelech and the contribution of the family to the tribe of Judah to Israel’s national storyline is further revealed in the kingship of David, a descendant of Elimelech and Ruth.

RISK OF BLADDER CANCER ASSOCIATED WITH FAMILY HISTORY OF CANCER: DO LOW-PENETRANCE POLYMORPHISMS ACCOUNT FOR THE INCRESE IN RISK?

2008 ◽  
Vol 179 (4S) ◽  
pp. 322-323
Author(s):  
Dario Garcia-Rojo ◽  
Nuria Malats ◽  
Cristine Murta-Nascimento ◽  
Debra T Silverman ◽  
Juan Prats ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Family History ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

scholarly journals P2-13 Family history of cancer: the role of smoking status of affected relatives

2011 ◽  
Vol 65 (Suppl 1) ◽  
pp. A223-A223
Author(s):  
T. N. Toporcov ◽  
J. L. F. Antunes ◽  
M. B. de Carvalho ◽  
D. L. Figueiredo ◽  
J. F. Gois-Filho ◽  
...  
Keyword(s):  
Family History ◽  
Smoking Status ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

scholarly journals The Family-History of Cancer-Patients

BMJ ◽  
1884 ◽  
Vol 1 (1222) ◽  
pp. 1039-1040 ◽  
Author(s):  
W. R. Williams
Keyword(s):  
Family History ◽  
Cancer Patients ◽  
Family History Of Cancer ◽  
The Family ◽  
History Of ◽  
History Of Cancer

scholarly journals FAMILY STORIES IN DIFFERENT TYPES OF DISCOURSE

2019 ◽  
Vol 7 (1) ◽  
pp. 9
Author(s):  
A. Yu. Pomnikova
Keyword(s):  
Family History ◽  
Institutional Discourse ◽  
Family Stories ◽  
Communicative Behavior ◽  
Behavior Observation ◽  
The Family ◽  
Different Types ◽  
History Of ◽  
Communicative Space

Introduction: the last decades are characterized by a rising tide of interest of Russian citizens for the history of their families. The main form of its existence are family stories - both about the present of the family and its subjects, and about their past. These stories become natural part of our communicative space, no matter which type of activity and what social roles we are involved in. Materials and methods: the study was conducted on the material of texts - both oral and written, - containing information about addresser’s family. The main methods included the method of communicative behavior observation, the method of studying the forms and types of representation of family stories in different types of conversation, the method of analyzing and the method of generalization. Results: the purpose of this article was to analyze various types of discourse in order to identify the presence/absence of family stories in each of them, and to determine the role of such stories in various spheres of our life. Having considered interpersonal and several types of institutional discourse (scientific, popular scientific, political, medical, pedagogical and advertising), we examined how each of them presents family stories, for what purpose subjects use this kind of stories in each of the analyzed types of discourse and which aspects of family history are most relevant in each case. As a result of the study, it was determined that family stories play a significant role in our communication in each of the analyzed types of discourse, but in each of them they are used with a specific purpose. Discussion and conclusion: if we consider everything we know about our family as a family history (that consists of many separate, private family stories), then we can conclude that it flows into all spheres of our life. Our family history is penetrated by different types of discourse in which we participate, and, being included in our communication, is preserved in it.

Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e12588-e12588
Author(s):  
Yen Yen Tan ◽  
Daniela Muhr ◽  
Christine Rappaport-Fuerhauser ◽  
Daphne Gschwantler-Kaulich ◽  
Christoph Grimm ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Age At Onset ◽  
Family History Of Cancer ◽  
The Family ◽  
Brca1 Carriers ◽  
History Of ◽  
History Of Cancer

e12588 Background: We assessed the prevalence of family history and its association with germline BRCA1/2mutation status/location and age at onset in triple-negative breast cancer (TNBC) patients. Methods: 266 patients with TNBC < 60 years unselected for family history of cancer were enrolled and germline DNA was sequenced to identify mutations. Family pedigrees were prospectively collected from these patients. Logistic regression was used to investigate family history and its association with mutation type/location and age at onset. ROC curves were constructed to determine good predictors of BRCAmutations. Results: BRCA mutations were identified in 18.0% of all patients (15.0% BRCA1, 3.0% BRCA2). BRCA1 carriers have a significantly earlier age at onset than non-mutation carriers (40 vs 49 years; p < .001). While 39/124 (31.4%) patients with family history of cancer carried a BRCA1/2 mutation, 9/142 (6.3%) BRCA carriers had no family history of cancer. BRCA1 carriers with ≥1BC in the family are commonly identified in the breast cancer cluster regions (53.1%). BRCA2 carriers more commonly cluster within the ovarian cancer regions. Of note, this difference was not statistically significant. Women with mutations in BRCA1 OCCR are diagnosed at a younger age. TNBC diagnosed ≤45 years with ≥1BC and ≥1OC in the family are good predictors of BRCA1 mutation (AUC 0.867). Conclusions: Young women with TNBC and a family history of BC and OC are likely to have a BRCA mutation. Specific BRCA mutation locations may add to the identification of a subgroup of TNBC patients with a relatively higher risk of subsequent ovarian cancer. Identification of high-risk TNBC patients with BRCA1 mutation will enable clinicians to optimize cancer management for this phenotype, but will require further validation in larger studies.

Sign in / Sign up

Export Citation Format

Share Document