Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.4778
Abstract: Pathogenic germline mutations in several rare penetrant cancer predisposition genes are associated with an increased risk of aggressive prostate cancer (PC). Our objectives were to determine the prevalence of pathogenic germline mutations in men with… read more here.
Keywords: surveillance; penetrant cancer; germline mutations; cancer predisposition ... See more keywords
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early‐onset disease
Sign Up to like & getrecommendations! Published in 2019 at "Cancer"
DOI: 10.1002/cncr.31908
Abstract: An inherited susceptibility to renal cancers is associated with multiple predisposing genes, but most screening tests are limited to patients with a family history. Next‐generation sequencing (NGS)–based multigene panels provide an efficient and adaptable tool… read more here.
Keywords: mutations renal; cancer predisposition; germline; germline mutations ... See more keywords
Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer
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DOI: 10.1002/ijc.32424
Abstract: The prevalence and clinical relevance of TP53 germline mutations in a large unselected breast cancer series are largely unknown. Here, we determined TP53 germline mutations in a large cohort of 10,053 unselected breast cancer patients… read more here.
Keywords: cancer; tp53 germline; germline mutations; breast cancer ... See more keywords
Germline mutations in Chinese ovarian cancer with or without breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1940
Abstract: Ovarian and breast cancers are known to have significant genetic components. Considering the differences in the mutation spectrum across ethnicity, it is important to identify hereditary breast and ovarian cancer (HBOC) genes mutation in Chinese… read more here.
Keywords: chinese ovarian; mutations chinese; germline mutations; ovarian cancer ... See more keywords
Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.672
Abstract: The serum tumor markers has been widely used in ovarian cancer diagnosis. BRCA1/2 germline mutations are the most common predisposing factors for ovarian cancer development. This study aimed to comprehensively investigate serum tumor markers and… read more here.
Keywords: tumor markers; brca1 germline; ovarian cancer; serum tumor ... See more keywords
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients
Sign Up to like & getrecommendations! Published in 2019 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-019-05483-7
Abstract: To investigate the prevalence and clinical relevance of PALB2 germline mutations in BRCA1/2-negative breast cancer patients. The exons and intron–exon boundaries of the PALB2 gene were sequenced by multigene panel testing in a cohort of… read more here.
Keywords: negative breast; breast; palb2 germline; breast cancer ... See more keywords
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00798-3
Abstract: Purpose Owing to recent technological advancements, using next-generation sequencing (NGS) and the accumulation of clinical experiences worldwide, more than 420 genes associated with inborn errors of immunity (IEI) have been identified, which exhibit large genotypic… read more here.
Keywords: exome sequencing; errors immunity; whole exome; mutations patients ... See more keywords
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma
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DOI: 10.1016/j.jtho.2017.08.011
Abstract: Introduction: Although lung cancer is generally thought to be environmentally provoked, anecdotal familial clustering has been reported, suggesting that there may be genetic susceptibility factors. We systematically tested whether germline mutations in eight candidate genes… read more here.
Keywords: lung adenocarcinoma; dna repair; cancer; gene ... See more keywords
EGFR and ERBB2 Germline Mutations in Chinese Lung Cancer Patients and Their Roles in Genetic Susceptibility to Cancer
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2018.12.006
Abstract: Introduction: Inherited genetic determinants of lung cancer risk remain relatively elusive. Germline mutations in EGFR and erb‐b2 receptor tyrosine kinase 2 (ERBB2) have been previously reported in lung cancers that may be associated with genetic… read more here.
Keywords: egfr; lung cancer; cancer; germline mutations ... See more keywords
Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer
Sign Up to like & getrecommendations! Published in 2019 at "Translational Oncology"
DOI: 10.1016/j.tranon.2019.07.016
Abstract: The majority of the hereditary triple-negative breast cancers (TNBCs) are associated with BRCA1 germline mutations. Nevertheless, the understanding of the role of BRCA1 deficiency in the TNBC tumorigenesis is poor. In this sense, we performed… read more here.
Keywords: brca1 germline; breast; germline mutations; germline ... See more keywords
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.5
Abstract: Genetic testing for breast cancer predisposing genes, BRCA1 and BRCA2, can take advantage for early identification of carriers with pathogenic germline mutations. However, conventional approaches based on Sanger sequencing are laborious and expensive. Next-generation sequencing… read more here.
Keywords: mutations brca1; cost; brca1 brca2; throughput sequencing ... See more keywords