-
Article
Open AccessSaturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of va...
-
Article
Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients
The primary purpose of this study is to identify if there is an underlying genetic predisposition for COVID-related macroglossia and if this susceptibility is higher among individuals of African heritage. Seco...
-
Article
Open AccessMutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those loca...
-
Article
Open AccessAn integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the...
-
Article
Open AccessSplicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a s...
-
Article
Open AccessGermline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico
Inherited pathogenic variants in genes that confer moderate to high risk of breast cancer may explain up to 50% of familial breast cancer. This study aimed at identifying inherited pathogenic variants in breas...
-
Article
The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma
Pancreatic adenosquamous carcinomas are rare but highly aggressive tumors, and our understanding of them is limited. In a new study, Miles Wilkinson and colleagues now report that they have identified somatic ...
-
Article
Evidence for an Association of Human Papillomavirus and Breast Carcinomas
Human papillomavirus (HPV) DNA has been detected in breast carcinoma by different laboratorial techniques, suggesting the virus could play a role in the pathogenesis of this tumor. The aim of the present study...
