Comprehensive analysis and ACMG-based classification of CHEK2 variants in Spanish hereditary cancer patients
G Vargas-Parra, J del Valle, P Rofes, M Gausachs… - Authorea …, 2020 - authorea.com
Background: CHEK2 variants are associated with intermediate breast cancer risk among
other cancers. We aimed to comprehensively describe CHEK2 variants in a Spanish
hereditary cancer (HC) cohort and adjust American College of Medical Genetics and
Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines for their
classification. Methods: First, three CHEK2 frequent variants were screened in a
retrospective Hereditary Breast and Ovarian Cancer cohort of 516 patients. After, the whole …
other cancers. We aimed to comprehensively describe CHEK2 variants in a Spanish
hereditary cancer (HC) cohort and adjust American College of Medical Genetics and
Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines for their
classification. Methods: First, three CHEK2 frequent variants were screened in a
retrospective Hereditary Breast and Ovarian Cancer cohort of 516 patients. After, the whole …
Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients
G Vargas‐Parra, J Del Valle, P Rofes… - Human …, 2020 - Wiley Online Library
CHEK2 variants are associated with intermediate breast cancer risk, among other cancers.
We aimed to comprehensively describe CHEK2 variants in a Spanish hereditary cancer
(HC) cohort and adjust the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology (ACMG‐AMP) guidelines for their classification. First,
three CHEK2 frequent variants were screened in a retrospective Hereditary Breast and
Ovarian Cancer cohort of 516 patients. After, the whole CHEK2 coding region was analyzed …
We aimed to comprehensively describe CHEK2 variants in a Spanish hereditary cancer
(HC) cohort and adjust the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology (ACMG‐AMP) guidelines for their classification. First,
three CHEK2 frequent variants were screened in a retrospective Hereditary Breast and
Ovarian Cancer cohort of 516 patients. After, the whole CHEK2 coding region was analyzed …
以上显示的是最相近的搜索结果。 查看全部搜索结果