Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
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] Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific …
A Russo, L Incorvaia, E Capoluongo, P Tagliaferri… - ESMO open, 2022 - Elsevier
Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated
with an increased risk for developing breast and ovarian cancers. Current evidence …
with an increased risk for developing breast and ovarian cancers. Current evidence …
[HTML][HTML] Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives
S Gori, M Barberis, MA Bella, F Buttitta… - Critical Reviews in …, 2019 - Elsevier
The current availability of new Poly (ADP-ribose) Polymerase (PARP)-inhibitors for the
treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic …
treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic …
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2018 - gut.bmj.com
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now
survive both their first and subsequent cancers, resulting in a growing number of older …
survive both their first and subsequent cancers, resulting in a growing number of older …
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
YMC Hendriks, A Wagner, H Morreau, F Menko… - Gastroenterology, 2004 - Elsevier
Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a
mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative …
mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative …
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 …
[HTML][HTML] Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
A Borghesi, MA Mencarelli, L Memo, GB Ferrero… - Italian journal of …, 2017 - Springer
The rapid advancement of next-generation sequencing (NGS) technology and the decrease
in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has …
in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has …
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1
A Bellacosa, L Cicchillitti, F Schepis… - Proceedings of the …, 1999 - National Acad Sciences
The DNA mismatch repair (MMR) is a specialized system, highly conserved throughout
evolution, involved in the maintenance of genomic integrity. To identify novel human genes …
evolution, involved in the maintenance of genomic integrity. To identify novel human genes …