ArticleCurrent genomics2011
Anticipation in lynch syndrome: where we are where we go.
Article in Current genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- A rare case of colonic adenocarcinoma in a pediatric patient.JPGN reports · 2025Article
- Article
- A Rare Presentation of Pediatric Lynch Syndrome Presenting with Recurrent Adenomatous Polyps.JPGN reports · 2023Article
- Pediatric Rectal Adenocarcinoma With Mismatch Repair Deficiency Responds to Immunotherapy.JCO precision oncology · 2023Article
- A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.Familial cancer · 2022Article
- Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.Genome medicine · 2018Article
- Genetic anticipation in Swedish Lynch syndrome families.PLoS genetics · 2017Article
- Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Fertility and apparent genetic anticipation in Lynch syndrome.Familial cancer · 2014Article
- Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).Familial cancer · 2014Review
- A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.Molecular genetics & genomic medicine · 2014Article
- No evidence of genetic anticipation in a large family with Lynch syndrome.Familial cancer · 2014Article
- Toward a molecular classification of colorectal cancer: the role of telomere length.Frontiers in oncology · 2014Review
- Ovarian cancer: in search of better marker systems based on DNA repair defects.International journal of molecular sciences · 2013Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (LS) is the most common form of inherited predisposition to develop cancer mainly in the colon and endometrium but also in other organ sites. Germline mutations in DNA mismatch repair (MMR) gene cause the transmission of the syndrome in an autosomal dominant manner. The management of LS patients is complicated by the large variation in age at cancer diagnosis which requires these patients to be enrolled in surveillance protocol starting as early as in their second decade of life. Several environmental and genetic factors have been proposed to explain this phenotypic heterogeneity, but the molecular mechanisms remain unknown. Although the presence of genetic anticipation in Lynch syndrome has been suspected since 15 years, only recently the phenomenon has been increasingly reported to be present in different cancer genetic syndromes including LS. While the biological basis of earlier cancer onset in successive generations remains poorly known, recent findings point to telomere dynamics as a mechanism significantly contributing to genetic anticipation in Lynch syndrome and in other familial cancers. In this review, we summarize the clinical and molecular features of Lynch syndrome, with a particular focus on the latest studies that have investigated the molecular mechanisms of genetic anticipation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.