Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers
G Federici, S Soddu - Journal of Experimental & Clinical Cancer Research, 2020 - Springer
The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …
large-scale sequencing and increased the importance of genetic counseling for hereditary …
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
The clinical classification of hereditary sequence variants identified in disease-related genes
directly affects clinical management of patients and their relatives. The International Society …
directly affects clinical management of patients and their relatives. The International Society …
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is …
[HTML][HTML] A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients
Gene panels for hereditary breast and ovarian cancer risk assessment are gaining
acceptance, even though the clinical utility of these panels is not yet fully defined. Technical …
acceptance, even though the clinical utility of these panels is not yet fully defined. Technical …
Novel implications in molecular diagnosis of lynch syndrome
R Liccardo, M De Rosa, P Izzo… - … research and practice, 2017 - Wiley Online Library
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as
Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the …
Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the …
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer
SV Tavtigian, PJ Oefner, D Babikyan… - The American Journal of …, 2009 - cell.com
The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-
cancer-susceptibility gene. However, the spectrum and frequency distribution of ATM …
cancer-susceptibility gene. However, the spectrum and frequency distribution of ATM …
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
DE Goldgar, DF Easton, GB Byrnes… - Human …, 2008 - Wiley Online Library
Genetic testing often results in the finding of a variant whose clinical significance is
unknown. A number of different approaches have been employed in the attempt to classify …
unknown. A number of different approaches have been employed in the attempt to classify …
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
H Shimelis, RLS Mesman, C Von Nicolai, A Ehlen… - Cancer research, 2017 - AACR
Breast cancer risks conferred by many germline missense variants in the BRCA1 and
BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been …
BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been …
A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity
L Guidugli, VS Pankratz, N Singh, J Thompson… - Cancer research, 2013 - AACR
The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has
not been determined due to limited genetic information from families carrying these …
not been determined due to limited genetic information from families carrying these …
Identification of Breast Tumor Mutations in BRCA1 That Abolish Its Function in Homologous DNA Recombination
DJR Ransburgh, N Chiba, C Ishioka, AE Toland… - Cancer research, 2010 - AACR
Abstract Effects of breast cancer–associated gene 1 (BRCA1) missense mutations on the
function of BRCA1 protein in DNA recombination have been little studied. In this report, we …
function of BRCA1 protein in DNA recombination have been little studied. In this report, we …