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Sara González

Institut Català d'Oncologia
H指数:27
被引数:3,562

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Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

15种息肉病和结直肠癌易感基因的成对体细胞生殖系检测突出了APC镶嵌在新发家族性腺瘤性息肉病中的作用

2021-11-0117
OAAI
Improving Genetic Testing in Hereditary Cancer by RNA Analysis Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines

通过RNA分析工具改善遗传性癌症的基因检测,以优先考虑剪接研究和应用美国医学遗传学和基因组学指南的挑战

2020-12-0111
OAAI
ERCC3, a new ovarian cancer susceptibility gene?

ERCC3,一个新的卵巢癌易感基因?

2020-12-0112
PREAI
Comprehensive analysis and ACMG-based classification ofCHEK2variants in hereditary cancer patients

遗传性癌症患者的chek2变体的综合分析和基于ACMG的分类

2020-10-1416
OAAI
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA1和BRCA2变异的大规模多因素可能性定量分析: 支持临床变异分类的ENIGMA资源

2019-09-01102
OAAI
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

BRCA1,BRCA2和错配修复基因的机会性检测可提高表型驱动的遗传性癌症基因面板的产量

2019-04-1535
OAAI
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

多位点遗传性肿瘤等位基因综合征是否有严重的临床表现?

2018-12-2218
OAAI
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
2018-02-1525
OAAI
Mutational Heterogeneity in APC and KRAS Arises at the Crypt Level and Leads to Polyclonality in Early Colorectal Tumorigenesis
2017-10-0122
OAAI
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

全外显子组测序的基准测试和遗传癌症基因检测的特设设计小组

2017-01-0434
OAAI
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

家族性结直肠癌和/或息肉病的529个家族中的POLE和POLD1突变: 报告病例的回顾以及基因检测和监测的建议

2016-04-01197
OAAI