Genetic testing for hereditary prostate cancer: Current status and limitations

Zhen, Jun Tu; Syed, Jamil; Nguyen, Kevin A.; Leapman, Michael; Agarwal, Neeraj; Brierley, Karina L.; Llor, Xavier; Hofstatter, Erin; Shuch, Brian

doi:10.1002/cncr.31316

Cited by 80 publications

(93 citation statements)

References 62 publications

(157 reference statements)

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“…Additionally, associations between germline variations and familial prostate cancer have been reported . Recently, genetic variants in tumor‐suppressor gene HOXB13 and DNA‐repair genes, such as BRCA1/2 , MLH1 , MSH2/6 , CHEK2 and ATM , were found to be involved in the risk of morbidity of prostate cancer . Additionally, various germline polymorphisms, such as single‐nucleotide polymorphism, have been shown to be weakly associated with the risk of prostate cancer .…”

Section: Discussionmentioning

confidence: 99%

“…21 Recently, genetic variants in tumor-suppressor gene HOXB13 and DNA-repair genes, such as BRCA1/2, MLH1, MSH2/6, CHEK2 and ATM, were found to be involved in the risk of morbidity of prostate cancer. 22 Additionally, various germline polymorphisms, such as single-nucleotide polymorphism, have been shown to be weakly associated with the risk of prostate cancer. 8 Intriguingly, germline mutations in DNA repair genes are suggested to be associated with both progression of prostate cancer 7 and worse prognosis with hormone therapy, 10 possibly partially accounting for the slightly better prognoses with hormone therapy in low-or intermediate-risk patients; fewer patients with family history and low-or intermediate-risk might carry deficiencies in DNA repair genes than those at high risk.…”

Section: Discussionmentioning

confidence: 99%

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Family history in primary hormone therapy for prostate cancer: Analysis from a community‐based multi‐institutional Japan‐wide database

et al. 2020

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Objectives To determine the association between hormone therapy and outcomes in a cohort of prostate cancer patients with a family history of prostate cancer. Methods Data of patients with prostate cancer who had received hormone therapy were extracted from a nationwide community‐based database established by the Japan Study Group for Prostate Cancer. Family history of prostate cancer was available for 13 346 of these patients, who thus comprised the study cohort. Prognostic variables, including progression‐free survival, cancer‐specific survival and overall survival, were compared between men with familial and men with sporadic prostate cancer. Results A positive family history was identified in 220 patients (1.6%). Patients with a positive family history were younger than those without; however, other clinicopathological characteristics and prognoses were comparable. In subgroup analysis, family history was identified as a possible favorable prognostic factor for overall survival among patients with a prostate‐specific antigen level at diagnosis <100 ng/mL and those with low or intermediate Japan Cancer of the Prostate Risk Assessment. Conclusions Our findings show that familial prostate cancer has an early‐onset feature or is diagnosed earlier than sporadic prostate cancer. However, the prognosis of individuals with familial prostate cancer undergoing hormone therapy is comparable to those with sporadic prostate cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Family history in primary hormone therapy for prostate cancer: Analysis from a community‐based multi‐institutional Japan‐wide database

et al. 2020

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“…127 Prostate cancer is extremely heterogeneous compared to other tumours, and accordingly, various familial and sporadic mutations have been identified that increase its risk. 128,129 Those with multiple single-gene polymorphisms and a family history of prostate cancer are at the highest risk. 126,[128][129][130][131][132] These include BRCA1 and BRCA2, MMR mutations including MLH1, MSH2 and MSH6, PMS2, HOXB13, checkpoint kinase 2 CHEK2, NBN, BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ATM.…”

Section: Prostate Cancermentioning

confidence: 99%

“…128,129 Those with multiple single-gene polymorphisms and a family history of prostate cancer are at the highest risk. 126,[128][129][130][131][132] These include BRCA1 and BRCA2, MMR mutations including MLH1, MSH2 and MSH6, PMS2, HOXB13, checkpoint kinase 2 CHEK2, NBN, BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ATM. [129][130][131] The potential of these findings is underscored by the recent approval of olaparib for BRCA1/BRCA2 or ATM-mutated, metastatic, castrate-resistant prostate cancer.…”

Section: Prostate Cancermentioning

confidence: 99%

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

et al. 2020

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The study of hereditary cancer, which accounts for~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.

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“…As the subject of quite a few studies, compared to other common tumor, the development or morbid condition of prostate cancer and further study is needed. Including old aging, ethnicity, individual heredity factors and family history [2,4] both were the generally-accepted risk factors of prostate cancer. Thus, diagnosing the individuals in danger of hereditary prostate cancer and potential other factors which contribute to the early detection and handle the development of PCa was urgent for us [5].…”

Section: Introductionmentioning

confidence: 99%

Association of rs3746444 in MiRNA-499 and rs3787016 in Long Non-coding RNAs POLR2E with Prostate Cancer: an updated meta-analysis and systematic review

Liu

Wang

et al. 2020

Preprint

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Background It has been proved that a significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Micro-RNAs and Long Non-coding RNAs are a group of a noncoding small molecule, which play critical roles in signalling pathways, metabolism, apoptosis and cancer development. Exercising a meta-analysis to examine the relationship between rs3746444, rs3787016 and prostate cancer (PCa) risk was the main objective of our study. Results 10 case-control studies were included, while 6 on rs3787016 and 4 on rs3746444. On the whole, the genotypes carrying the T allele, in which were verified an increased risk between rs3787016 and PCa risk.( T vs C: odds ratio(OR) = 1.802, 95% CI 1.015–3.198, P value of heterogeneity(PH) = 0.00%; CT vs CC: OR = 1.179,95% CI 1.091–1.275, PH = 0.41; TT vs CC: .OR = 1.418, 95% CI 1.229–1.636, PH= 0.961; TT + CT vs CC: OR = 1.216, 95% CI 1.129–1.310, PH= 0.408; TT vs CT + CC: OR = 1.328, 95%CI 1.159–1.521, PH = 0.987). A vital relevance was performed by this meta-analysis in three models between rs3746444 and PCa risk, in which a tendency of increased PCa risk could be found (C vs T: OR = 1.197, 95% CI 1.035–1.384, PH= 0.837; CC vs TT: OR = 1. 137, 95% CI 0.813–1.590, PH = 0.392; CC + CT vs TT: OR = 1.426, 95% CI 1.166–1.743, PH= 0.406.). Conclusion Our findings proposed that rs3746444 in MiRNA-499 and rs3787016 in Long Non-coding RNAs POLR2E polymorphisms increased the risk of developing PCa. Further functional studies are warranted to reveal the role of the polymorphism in carcinogenesis.

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Genetic testing for hereditary prostate cancer: Current status and limitations

Cited by 80 publications

References 62 publications

Family history in primary hormone therapy for prostate cancer: Analysis from a community‐based multi‐institutional Japan‐wide database

Family history in primary hormone therapy for prostate cancer: Analysis from a community‐based multi‐institutional Japan‐wide database

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

Association of rs3746444 in MiRNA-499 and rs3787016 in Long Non-coding RNAs POLR2E with Prostate Cancer: an updated meta-analysis and systematic review

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