scholarly journals A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2399
Author(s):  
Lisa Anne Cannon-Albright ◽  
Craig Carl Teerlink ◽  
Jeff Stevens ◽  
Franklin W. Huang ◽  
Csilla Sipeky ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Bladder Cancer ◽  
High Risk ◽  
Cancer Risk ◽  
Rare Variant ◽  
Prostate Cancer Risk ◽  
Cancer Predisposition ◽  
Bladder Cancer Risk ◽  
Extended Pedigree ◽  
Independent Population

Pairs of related bladder cancer cases who belong to pedigrees with an excess of bladder cancer were sequenced to identify rare, shared variants as candidate predisposition variants. Candidate variants were tested for association with bladder cancer risk. A validated variant was assayed for segregation to other related cancer cases, and the predicted protein structure of this variant was analyzed. This study of affected bladder cancer relative pairs from high-risk pedigrees identified 152 bladder cancer predisposition candidate variants. One variant in ERF (ETS Repressing Factor) was significantly associated with bladder cancer risk in an independent population, was observed to segregate with bladder and prostate cancer in relatives, and showed evidence for altering the function of the associated protein. This finding of a rare variant in ERF that is strongly associated with bladder and prostate cancer risk in an extended pedigree both validates ERF as a cancer predisposition gene and shows the continuing value of analyzing affected members of high-risk pedigrees to identify and validate rare cancer predisposition variants.

scholarly journals The Rare Variant rs35356162 in UHRF1BP1 Increases Bladder Cancer Risk in Han Chinese Population

2020 ◽  
Vol 10 ◽  
Author(s):  
Junlong Wu ◽  
Meilin Wang ◽  
Haitao Chen ◽  
Jianfeng Xu ◽  
Guiming Zhang ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Risk ◽  
Rare Variant ◽  
Chinese Population ◽  
Han Chinese ◽  
Bladder Cancer Risk ◽  
Han Chinese Population

scholarly journals Prostate cancer risk group is associated with other-cause mortality in men with localized prostate cancer

2020 ◽  
Vol 14 (10) ◽  
Author(s):  
Rehana Rasul ◽  
Anne Golden ◽  
Michael A. Feuerstein
Keyword(s):  
Prostate Cancer ◽  
Cardiovascular Disease ◽  
High Risk ◽  
Cancer Risk ◽  
Risk Group ◽  
Prostate Cancer Risk ◽  
Initial Therapy ◽  
Localized Prostate Cancer ◽  
Treatment Type ◽  
Risk Patients

Introduction: Informed decision-making in localized prostate cancer must consider the natural history of the disease, risks of treatment, and the competing risks from other causes. Other-cause mortality has often been associated with comorbidity or treatment-related side effects. We aimed to examine the association between prostate cancer aggressiveness and other cause mortality. Methods: Using the Surveillance, Epidemiology, and End Results’ (SEER)18 registries, patients diagnosed with localized prostate cancer between 2004 and 2015 were identified. Patients were categorized into low-, intermediate- and high-risk groups. Vital status, death due to prostate cancer and death due to other causes were based on death certificate information. Survival analyses were performed to assess the association between prostate cancer risk group and mortality while adjusting for demographic variables, year of diagnosis, and initial therapy. Results: A total of 464 653 patients were identified with a median followup of 5.4 years. Cardiovascular disease was the most common cause of mortality during the study period. Compared to low-risk patients, intermediate- and high-risk patients had a higher risk of mortality from other cancers, from cardiovascular disease, and from other causes of death regardless of initial treatment. Men who underwent surgery as initial therapy had lower cumulative mortality rates compared to those with radiation as their initial therapy. Conclusions: Intermediate- and high-risk prostate cancers are associated with higher risk of other-cause mortality. This appears to be independent of treatment type and may not be solely explained by comorbidity status. Further studies controlling for comorbidity and treatment burden should be explored.

A rare variant in EZH2 is associated with prostate cancer risk

2021 ◽  
Author(s):  
Kelsie Raspin ◽  
Liesel M FitzGerald ◽  
James R Marthick ◽  
Matt A Field ◽  
Roslyn C Malley ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Rare Variant ◽  
Prostate Cancer Risk

scholarly journals A rare variant, which destroys a FoxA1 site at 8q24, is associated with prostate cancer risk

Cell Cycle ◽  
2013 ◽  
Vol 12 (2) ◽  
pp. 379-380 ◽  
Author(s):  
Dennis J. Hazelett ◽  
Simon G. Coetzee ◽  
Gerhard A. Coetzee
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Rare Variant ◽  
Prostate Cancer Risk

scholarly journals Cancer Predisposition Genes in Cancer-Free Families

Cancers ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 2770
Author(s):  
Guoqiao Zheng ◽  
Calogerina Catalano ◽  
Obul Reddy Bandapalli ◽  
Nagarajan Paramasivam ◽  
Subhayan Chattopadhyay ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Prostate Cancer Risk ◽  
Cancer Predisposition ◽  
Loss Of Function ◽  
Risk Alleles ◽  
Pathogenic Variants ◽  
Predisposition Genes ◽  
High Risk Cancer ◽  
Risk Of Cancer

Familial clustering, twin concordance, and identification of high- and low-penetrance cancer predisposition variants support the idea that there are families that are at a high to moderate excess risk of cancer. To what extent there may be families that are protected from cancer is unknown. We wanted to test genetically whether cancer-free families share fewer breast, colorectal, and prostate cancer risk alleles than the population at large. We addressed this question by whole-genome sequencing (WGS) of 51 elderly cancer-free individuals whose numerous (ca. 1000) family members were found to be cancer-free (‘cancer-free families’, CFFs) based on face-to-face interviews. The average coverage of the 51 samples in the WGS was 42x. We compared cancer risk allele frequencies in cancer-free individuals with those in the general population available in public databases. The CFF members had fewer loss-of-function variants in suggested cancer predisposition genes compared to the ExAC data, and for high-risk cancer predisposition genes, no pathogenic variants were found in CFFs. For common low-penetrance breast, colorectal, and prostate cancer risk alleles, the results were not conclusive. The results suggest that, in line with twin and family studies, random environmental causes are so dominant that a clear demarcation of cancer-free populations using genetic data may not be feasible.

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