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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
The current state of sequence‐based genetic testing is reviewed, other standardized reporting systems used in oncology are described, and a standardized classification system for application to sequence-based results for cancer predisposition genes is proposed.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
The guidelines described in this paper may be helpful for the appropriate management of families with LS and Prospective controlled studies should be undertaken to improve further the care of these families.
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
The aim of this study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers, and recommended starting colonoscopic surveillance in female MSH 6 mutation carriers from age 30 years.
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.
- A. Bellacosa, L. Cicchillitti, G. Neri
- BiologyProceedings of the National Academy of Sciences…
- 30 March 1999
It is suggested that MED1 is a novel human DNA repair protein that may be involved in MMR and, as such, may be a candidate eukaryotic homologue of the bacterial MMR endonuclease, MutH.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
To identify mutation-specific cancer risks for carriers of BRCA1/2, an Observational study of women who were ascertained between 1937 and 2011 and found to carry disease-associated BRCa1 or BRC a2 mutations is conducted.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
The DNA repair gene MBD4 ( MED1 ) is mutated in human carcinomas with microsatellite instability and its role in DNA repair is unknown.
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation.
A role for minK and eNOS genes as predisposing factors to NVAF is suggested and a role for dominant, recessive, and additive model models is suggested.
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
Carriers of different path_MMR variants exhibit distinct patterns of cancer risk and survival as they age, and risk estimates for counselling and planning of surveillance and treatment should be tailored to each patient’s age, gender and path-MMR variant.
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.
The fragile X sample showed a higher than expected heterozygosity when compared to the control sample and it is suggested that this might be explained by the chance occurrence of the few founding events on different chromosomes, irrespective of their actual frequency in the population.