Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations

Niessen, Renée C.; Sijmons, Rolf H.; Berends, Mjw; Ou, Jianghua; Hofstra, Robert; Kleibeuker, Jan H.

doi:10.1080/00855920410010915

Cited by 3 publications

(4 citation statements)

References 46 publications

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“…DNA double strand breaks, produced by replication errors or by exogenous agents, are repaired by homologous recombination (HRR) or non-homologous end joining repair pathways [2]. Similarly, the DNA mismatch repair (MMR) system, which corrects mismatched base pairs generated during DNA replication or recombination, is also important in maintaining genome stability [3].…”

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confidence: 99%

Polymorphisms inXPD,XPCand the risk of death in patients with urinary bladder neoplasms

et al. 2007

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confidence: 99%

Polymorphisms inXPD,XPCand the risk of death in patients with urinary bladder neoplasms

et al. 2007

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“…Currently four genes have been isolated and associated with HNPCC, hMLH1, hMSH2, hMSH6 and hPMS2. Both hMSH2 and hMSH6 reside on chromosome 2, hMLH1 is on chromosome 3 and hPMS2 is on chromosome 7 (for review see Niessen et al 2004 [3]).…”

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confidence: 99%

“…Chordomas are rare slow growing bone tumours that are believed to arise out of notochord remnants [3]. They tend to occur at the base of the skull and have a relatively benign histological appearance.…”

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confidence: 99%

Case Report: Familial Gastric Cancer and Chordoma in the Same Family

Weber¹,

Scott

2005

Hered Cancer Clin Pract

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Gastric cancers are the second most common malignancy in the world and represent a major burden to all societies even though the incidence of disease is decreasing in the industrialized world. The aetiology of the disease is complex and is believed to be primarily due to environmental factors but a small proportion of cases are recognised as being associated with genetic factors. Two inherited forms of stomach cancer have been identified, one which is associated with familial clusterings of stomach cancer and the other being a subgroup of families that belong to hereditary non polyposis colorectal cancer (or Lynch syndrome). In this report we present a small nuclear family which is unusual in that there is a clustering of malignancy which includes stomach cancer, colorectal cancer and chordoma. Genetic analysis failed to reveal any causative mutation in genes associated with HNPCC or in E-cadherin. Together, the clinical picture in this family may indicate that other genetic factors are behind this family's clustering of malignancy.

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“…The most important theoretical criteria in support of pathogenicity in Lynch syndrome context are the non‐conservative nature and evolutionary conservation of the amino acid change, absence of the genetic change in the normal population, its segregation with the disease, association with MSI and lack of the specific protein in tumour tissue (1, 13).…”

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confidence: 99%

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome

Cederquist¹,

Emanuelsson²,

Wiklund³

et al. 2005

Clinical Genetics

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Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a cancer susceptibility syndrome caused by germline mutations in mismatch-repair genes, predominantly MLH1, MSH2 and MSH6. A majority of the mutations reported are truncating, but for MSH6, missense mutations constitute over one third. Few have been proven pathogenic in functional studies or shown to segregate in families. In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree. Another large family with the MSH6 nonsense c.2931C>G, p.Tyr977X mutation is similar in tumour spectra, age of onset and cumulative risk. These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%). The gender differences are in part explained by high endometrial (70%) and ovarian (33%) cancer risks added upon the high colorectal cancer risk (60%). The several occurrences of breast cancer are not due to the MSH6 mutations. These findings are of great importance for counselling, management and surveillance of families with MSH6 mutations.

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Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations

Cited by 3 publications

References 46 publications

Polymorphisms inXPD,XPCand the risk of death in patients with urinary bladder neoplasms

Polymorphisms inXPD,XPCand the risk of death in patients with urinary bladder neoplasms

Case Report: Familial Gastric Cancer and Chordoma in the Same Family

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome

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