Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance
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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
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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
Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2‐visit consent model
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DOI: 10.1002/cncr.32071
Abstract: Patients with cancer are increasingly offered genomic sequencing, including germline testing for cancer predisposition or other disorders. Such testing is unfamiliar to patients and families, and clear communication is needed to introduce genomic concepts and… read more here.
Keywords: testing cancer; germline testing; speaking genomics; cancer predisposition ... See more keywords
Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41
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DOI: 10.1002/gcc.22680
Abstract: DDX41 has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). We report for the first time compound… read more here.
Keywords: cancer; cancer predisposition; predisposition syndrome; mutations ddx41 ... See more keywords
Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women
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DOI: 10.1007/s10549-020-05643-0
Abstract: Purpose Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data… read more here.
Keywords: predisposition genes; breast cancer; cancer predisposition; cancer ... See more keywords
Review of Pediatric Head and Neck Neoplasms that Raise the Possibility of a Cancer Predisposition Syndrome
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DOI: 10.1007/s12105-021-01292-x
Abstract: Cancer predisposition syndromes (CPS) are generally heritable conditions that predispose individuals to develop cancer at a higher rate and younger age than their representative general population. They are a significant cause of cancer related morbidity… read more here.
Keywords: cancer; pediatric head; cancer predisposition; head neck ... See more keywords
Examining information-seeking behavior in genetic testing for cancer predisposition: A qualitative interview study.
Sign Up to like & getrecommendations! Published in 2020 at "Patient education and counseling"
DOI: 10.1016/j.pec.2020.09.019
Abstract: OBJECTIVE This study aims to assess information needs and information sources and seeks to illustrate what at-risk individuals consider motivators of and barriers to information-seeking before and after genetic testing for cancer predisposition. METHODS Semi-structured… read more here.
Keywords: testing cancer; genetic testing; information; information seeking ... See more keywords
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-01011-8
Abstract: It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer prevention, early detection and targeted treatments in index cases and… read more here.
Keywords: cancer; index case; cancer predisposition; index ... See more keywords
Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing
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DOI: 10.1080/14737159.2017.1267567
Abstract: ABSTRACT Introduction: DNA sequencing advances through next-generation sequencing (NGS) and several practice changing events, have led to shifting paradigms for inherited cancer predisposition testing. These changes necessitated a means by which to maximize health benefits… read more here.
Keywords: inherited cancer; cancer predisposition; care; predisposition testing ... See more keywords
Genetic predisposition to cancers in children and adolescents
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DOI: 10.1097/mop.0000000000001197
Abstract: Purpose of review Childhood cancer is rare, but it remains the leading cause of disease-related mortality among children 1–14 years of age. As exposure to environmental factors is lower in children, inherited genetic factors become an… read more here.
Keywords: predisposition syndromes; predisposition; predisposition cancers; genetic predisposition ... See more keywords
Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient
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DOI: 10.1158/1078-0432.ccr-17-0834
Abstract: As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic counseling for this population is paramount. In October 2016, the American… read more here.
Keywords: surveillance; genetic counseling; cancer predisposition; cancer ... See more keywords