ArticleMolecular genetics & genomic medicine2016
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancer.BMC cancer · 2025Article
- Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Scientific reports · 2023Article
- Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.International journal of molecular sciences · 2021Review
- Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.Cancer communications (London, England) · 2020Article
- Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.Molecular genetics & genomic medicine · 2020Article
- A Novel GermlineGenes · 2020Article
- Prevalence and spectrum ofHereditary cancer in clinical practice · 2019Article
- Synchronous endometrial and ovarian cancer in Lynch syndrome with aMolecular and clinical oncology · 2018Article
- A NovelBioMed research international · 2018Article
- A novelHuman genome variation · 2018Article
- A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.BMC cancer · 2017Article
- Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Article
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4 authors.
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Abstract
backgroundLynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from intensive surveillance programs. One of the challenges with genetic testing is the interpretation of pathogenicity of detected DNA variants. The aim of this study was to investigate all putative pathogenic variants tested for at the Division of Molecular Medicine, Pathology North, in Newcastle, Australia, to establish whether previous variant classification is in accordance with that recently performed in the InSiGHT collaboration.
methodsPrediction programs and available literature were used to classify new variants or variants without classification.
resultsWe identified 333 mutation positive families, in which 211 different putative pathogenic mismatch repair mutations were found. Most variants with an InSiGHT classification (141 out of 146) were in accordance with our classification. Five variants were discordant, of which one can definitively be reclassified according to the InSiGHT scheme as class 5. Sixty-four variants had not been classified by InSiGHT, of whom 55 have not been previously reported.
conclusionIn conclusion, we found that our classifications were mostly in accordance with the InSiGHT scheme. In addition to already known MMR mutations, we have also presented 55 novel pathogenic or putative pathogenic mutations.
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