期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
DNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair fu......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
Background and purposes The pathogenic BRCA1/2 germline mutations contributed to Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. The featu......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
Background Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burd......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
BackgroundThe most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) gen......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
Background 16-25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considere......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2021; 19 (1)
BackgroundMedulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this diseas......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2020; 18 (1)
Background Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2020; 18 (1)
Objective Central nervous system (CNS) hemangioblastomas (HGBs) are the most frequent cause of mortality in patients with von Hippel-Lindau (VHL) gene......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2019; 17 ()
BackgroundLynch syndrome is the most common hereditary colorectal cancer syndrome, and adenoma is one of the important premalignant lesions to colorec......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2019; 17 ()
Background: Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was o......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2019; 17 ()
BackgroundLarge-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the PALB2 and RECQL genes. Some......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2019; 17 (1)
Background Little is known about the status of genetic counseling for ovarian cancer in China. Case presentation We report a four-generation Chinese f......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2022; 20 (1)
Background Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromoso......
期刊： HEREDITARY CANCER IN CLINICAL PRACTICE, 2022; 20 (1)
The Hox transcript antisense intergenic RNA (HOTAIR) has been identified as a tumor gene, and its expression in HCC is significantly increased. HOTAIR......
