The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

Abstract Prostate cancer (PrCa) is one of the most common cancers diagnosed worldwide and 5–10 % of all cases are estimated to be associated with inherited predisposition. Even though there is strong evidence that the genetic component is significant in PrCa, the genetic etiology of familial and early-onset disease is largely unknown. Although it has been suggested that men from families with hereditary breast/ovarian cancer (HBOC) and, more recently, with Lynch syndrome may have an increased risk for PrCa, the contribution of these syndromes to PrCa predisposition in families ascertained for early-onset and/or familial PrCa, independently of the presence of other cancers in the family, is uncertain. To quantify the contribution of genes associated with HBOC and Lynch syndromes to PrCa predisposition, we have tested for germline mutations 460 early-onset and/or familial PrCa patients. All patients were screened for the six mutations that are particularly common in Portugal and 38 of them were selected for complete sequencing of BRCA1/2 and/or MLH1, MSH2 and MSH6. Two patients were found to harbor the same MSH2 mutation and a third patient carried a Portuguese BRCA2 founder mutation. None of the alterations were identified in 288 control subjects. Furthermore, we reviewed the 62 PrCa diagnoses in all HBOC (n = 161) and Lynch syndrome (n = 124) families previously diagnosed at our department, and found five other BRCA2 mutation carrie...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

Related Links:

The original version of this article unfortunately contained a mistake. The correct information is given below.
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
The original version of this article unfortunately contained a mistake. Complete figure captions are missing.
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
Authors: Robb CM, Kour S, Contreras JI, Agarwal E, Barger CJ, Rana S, Sonawane Y, Neilsen BK, Taylor M, Kizhake S, Thakare RN, Chowdhury S, Wang J, Black JD, Hollingsworth MA, Brattain MG, Natarajan A Abstract [This corrects the article DOI: 10.18632/oncotarget.23749.]. PMID: 32637035 [PubMed - in process]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Authors: Sarfstein R, Werner H Abstract A significant volume of clinical and epidemiological data provides support to the concept that insulin and the insulin receptor (INSR) have an important role in breast cancer. Tumor suppressor p53 is the most frequently mutated molecule in human cancer. The present study was aimed at evaluating the hypothesis that p53 governs the expression and activation of the INSR gene in breast cancer cells. In addition, the study was designed to investigate the mechanism of action of p53 in the context of INSR gene regulation. The availability of MCF7 breast cancer-derived cell lines wit...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSIONS: New-onset AF and the other severe complications were not associated with poorer long-term survival following esophagectomy. In addition, administration of landiolol hydrochloride after esophagectomy did not contribute to prolonging the OS. PMID: 32637032 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSIONS: Our findings confirmed a high frequency of KIT and NRAS mutations in SUM, as well as a low incidence of BRAF mutations. We reported novel KRAS, CTNNB1, TP53, ERBB2, and SMAD4 mutations in SUM. Our findings provide new insights into the molecular pathogenesis of SUM. PMID: 32637031 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Authors: Chae HD, Dutta R, Tiu B, Hoff FW, Accordi B, Serafin V, Youn M, Huang M, Sumarsono N, Davis KL, Lacayo NJ, Pigazzi M, Horton TM, Kornblau SM, Sakamoto KM Abstract The 90 kDa Ribosomal S6 Kinase (RSK) drives cell proliferation and survival in cancers, although its oncogenic mechanism has not been well characterized. Phosphorylated level of RSK (T573) was increased in acute myeloid leukemia (AML) patients and associated with poor survival. To examine the role of RSK in AML, we analyzed apoptosis and the cell cycle profile following treatment with BI-D1870, a potent inhibitor of RSK. BI-D1870 treatment increa...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
This study aimed to determine the impact of coexisting COPD on long-term mortality in patients with CS-dependent asthma. METHODS: A retrospective cohort of patients with CS-dependent asthma aged 40 years or older was established using records from the Korean National Health Insurance Service database for 2005 to 2015. We classified the subjects into 2 groups according to the presence of COPD and evaluated the hazard ratio (HR) for all-cause mortality in patients with COPD relative to those without COPD. RESULTS: Of 8,021 patients with CS-dependent asthma, 3,121 (38.9%) had COPD. All-cause mortality was significantl...
Source: Allergy, Asthma and Immunology Research - Category: Allergy & Immunology Tags: Allergy Asthma Immunol Res Source Type: research
Authors: Enikeev D, Taratkin M, Morozov A, Shpikina A, Singla N, Rivas JG, Barret E, Glybochko P PMID: 32638576 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
In conclusion, this study has identified putative PrCa predisposing germline mutations in 14.9% of early-onset/familial PrCa patients. Further data will be necessary to confirm the genetic heterogeneity of inherited PrCa predisposition hinted in this study.
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
More News: Cancer | Cancer & Oncology | Gastroschisis Repair | Genetics | HNPCC | Lynch Syndrome | Ovarian Cancer | Ovaries | Prostate Cancer