Sequencing for novel mutation screening in juvenile polyposis syndrome

Khongcharoen, Nattapon; Laochareonsuk, Wison; Choochuen, Pongsakorn; Maneechay, Wanwisa; Sangkhathat, Surasak

doi:10.1016/j.epsc.2022.102216

Cited by 1 publication

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“…HNPCC is a clinical diagnosis de ned by clinical criteria such as the Amsterdam Criteria II and the Revised Bethesda Guidelines(3), and HNPCC with molecular pathology in the MMR, either micro-satellite instability and/or de cient MMR protein expression is called Lynch syndrome (MIM #120435) (4). Other syndromes associated with inherited colorectal cancer are MUTYH-associated colorectal cancer, juvenile polyposis syndrome (5), and Peutz-Jeghers syndrome(6).…”

Section: Introductionmentioning

confidence: 99%

A novel mutation of MET in hereditary non-polyposis colorectal cancer identified by whole exome sequencing: report of a family

Khongcharoen

Laochareonsuk

Boonpipattanapong

et al. 2022

Preprint

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Background Hereditary non-polyposis colorectal cancer (HNPCC) is a form of inheritable colorectal cancer. The condition is usually associated with mutations in DNA mismatch repair genes (MMR) such as MSH2 MLH1 MSH6 PMS2 or other genes. In this report of a family, none of associate gene were involved Case presentation: The 56-year-old male presented with hematochezia and tenesmus for 5 months. The colonoscopy revealed a rectal tumor at 7 cm above anal verge. Then the tissue biopsy was done. The diagnosis was adenocarcinoma of the rectum of poor differentiation. The immunohistochemistry panel for MMR proteins showed diffusely strong positivity for MLH1 and PMS2 expression and weak positivity for MSH2 and MSH6 but screening for MMR mutations in the index case was negative. Whole exome sequencing was then performed using DNA from 4 family members, the index case, his spouse, their daughter, and their son. Conclusions The study identified a mutation on the MET proto-oncogene (c1124A > G) and/or PTCH1 (NM_00264.5: c.4045C > T) as pathogenic variant that explained the inheritance of HNPCC in this family in an autosomal dominant pattern. We concluded that the MET proto-oncogene is a candidate gene for HNPCC.

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Section: Introductionmentioning

confidence: 99%