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Comment
. 2020 Nov;69(11):2048-2049.
doi: 10.1136/gutjnl-2019-320511. Epub 2020 Jan 10.

The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis

Abdul K Siraj #  1 , Tariq Masoodi #  1 , Rong Bu #  1 , Sandeep Kumar Parvathareddy  1 , Sarah Siraj  1 , Ali Alassiri  2 , Fouad Al-Dayel  3 , Fowzan S Alkuraya  4 , Khawla S Al-Kuraya  5
Affiliations
Comment

The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis

Abdul K Siraj et al. Gut. 2020 Nov.
No abstract available

Keywords: HNPCC syndrome; colorectal cancer; familial adenomatous polyposis.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Distribution of cases in the cohort (n=1207), with MSS and non-mutated MMR genes (n=1095); MSI, but without mutated MMR genes (n=86); and cases with MSI and mutated MMR genes (Lynch Syndrome, n=26). Mutations in these genes varied in their cancer risk by age 50 years; MLH1 14%, MSH2 35%, MSH6 20% and PMS2 increased 26%, EPCAM 7%. EPCAM, epithelial cell adhesion molecule; MMR, mismatch repair; MLH1, mutL homolog 1; MSI, microsatellite instable; MSH2, mutS homolog 2; MSH6, mutS homolog 6; MSS, microsatellite stable; PMS2, postmeiotic segregation 2.
Figure 2
Figure 2
Illustration (A) and colonoscopy findings (B) showing the approximate location in the sigmoid colon and rectum, from where the multiple polyps from case CRC 582, with familial adenomatous polyposis, were identified. (C) Schematic representation of the APC gene (NM_000038) exons, with indicated mutations and integrative genomics viewer (IGV) representation, for each of the polyps biopsied.
See this image and copyright information in PMC

Comment on

  • 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.
    Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group. Møller P, et al. Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28. Gut. 2018. PMID: 28754778 Free PMC article.

References

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