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Abstract:
PURPOSE:Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include. METHODS:To inform the clinical approach to hereditary cancer MGPT, we comprehensively evaluated 32 cancer predisposition genes by assessing phenotype-specific pathogenic variant (PV) frequencies, cancer risk associations, and performance of genetic testing criteria in a cohort of 165,000 patients referred for MGPT. RESULTS:We identified extensive genetic heterogeneity surrounding predisposition to cancer types commonly referred for germline testing (breast, ovarian, colorectal, uterine/endometrial, pancreatic, and melanoma). PV frequencies were highest among patients with ovarian cancer (13.8%) and lowest among patients with melanoma (8.1%). Fewer than half of PVs identified in patients meeting testing criteria for only BRCA1/2 or only Lynch syndrome occurred in the respective genes (33.1% and 46.2%). In addition, 5.8% of patients with PVs in BRCA1/2 and 26.9% of patients with PVs in Lynch syndrome genes did not meet respective testing criteria. CONCLUSION:Opportunities to improve upon identification of patients at risk for hereditary cancer predisposition include revising BRCA1/2 and Lynch syndrome testing criteria to include additional clinically actionable genes with overlapping phenotypes and relaxing testing criteria for associated cancers.
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最新影响因子:8.864 | 期刊ISSN:1098-3600 | CiteScore:6.36 |
出版周期:Monthly | 是否OA:YES | 出版年份:1998 |
自引率:5.80% | 研究方向:医学-遗传学 |
出版地区:UNITED STATES |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
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Genetics in Medicine, the official peer-reviewed journal of the American College of Medical Genetics and Genomics, aims to enhance the knowledge and practice of medical genetics. We publish original articles relevant to the broad aspects of medical genetics and genomics including manuscripts in clinical genetics/genomics; biochemical genetics and inherited metabolic disease; genetic disease therapeutics; cancer genetics, cytogenetics; laboratory genetics and genomics; molecular genetics; public health genetics; health services and implementation; genetic epidemiology/statistical genetics, genetic counseling, reproductive genetics, genetics and genomics education, economics and precision medicine, and ethical, legal and social implications of genetics and genomics. Innovation and influence on research and practice, as well as quality, methodology and impact on the delivery of genetic medicine will be considered during the review process. Genetics in Medicine does not publish case reports. Submitted manuscripts should not contain previously published material.
遗传学在医学,美国医学遗传学和基因组学学院的官方同行评审杂志,旨在提高医学遗传学的知识和实践。我们发表与医学遗传学和基因组学广泛领域相关的原创文章,包括临床遗传学/基因组学手稿;生化遗传学与遗传性代谢病;遗传疾病治疗;癌症遗传学,细胞遗传学;实验室遗传学和基因组学;分子遗传学;公共卫生遗传学;卫生服务和实施;遗传流行病学/统计遗传学、遗传咨询、生殖遗传学、遗传学和基因组学教育、经济学和精确医学、遗传学和基因组学的伦理、法律和社会影响。审查过程将考虑对研究和实践的创新和影响,以及质量、方法和对遗传药物提供的影响。 医学遗传学不发表病例报告。提交的稿件不应包含以前发表过的材料。
大类(学科) | 小类(学科) | 学科排名 |
生物 |
GENETICS & HEREDITY (遗传学) 1区 |
8/171 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
162 | 147 | 15 |
引文计数(2018)
文献(2015-2017)
3384次引用
532篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Medicine
小类(学科):Genetics (clinical)
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审稿时间: 2个月内 接受率: 中等(50%命中)
影响因子:2.566
ISSN:0739-7240
研究方向:农林科学-奶制品与动物科学
影响因子:6.497
ISSN:1172-7047
研究方向:医学-精神病学
影响因子:1.297
ISSN:0028-2804
研究方向:医学-精神病学
影响因子:4.604
ISSN:1092-8529
研究方向:医学-精神病学
影响因子:5.345
ISSN:1398-5647
研究方向:医学-精神病学
影响因子:3.492
ISSN:1540-2002
研究方向:CLINICAL NEUROLOGY-PSYCHIATRY
影响因子:4.562
ISSN:0269-8811
研究方向:医学-精神病学
影响因子:6.533
ISSN:0165-0327
研究方向:医学-精神病学
影响因子:5.415
ISSN:0924-977X
研究方向:医学-精神病学
发表一篇学和医学成像类SCI论文
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