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BMC Med Genet. 2018 Jun 22;19(1):106. doi: 10.1186/s12881-018-0605-x.

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S1, Zhang M1, Sun Y2, Yan H1,3, Zhao F4, Li Z5, Ji J6,7.

Author information

1
Center for Molecular Diagnostics, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, No.52 Fucheng Road, Haidian District, Beijing, 100142, China.
2
Department of Pathology, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, China.
3
Department of Pathology, Duke University Medical Center, Durham, NC, USA.
4
Genetron Health Co., Ltd, Beijing, China.
5
Department of Gastrointestinal Surgery, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, No.52 Fucheng Road, Haidian District, Beijing, 100142, China. ligregory369@hotmail.com.
6
Center for Molecular Diagnostics, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, No.52 Fucheng Road, Haidian District, Beijing, 100142, China. jijiafu@hsc.pku.edu.cn.
7
Department of Gastrointestinal Surgery, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, No.52 Fucheng Road, Haidian District, Beijing, 100142, China. jijiafu@hsc.pku.edu.cn.

Abstract

BACKGROUND:

Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3-5% of colorectal cancer. The risks of several types of cancer are greatly increased among individuals with LS. In this study, 4 members of a Chinese family with a MLH1 pathogenic variant, resulting in colonic carcinoma, was reported.

CASE PRESENTATION:

A 52-year-old colon cancer female was brought to us with a family history of colon cancer. Genetic counseling traced 4 members in her family with colon cancer (mother and 3 siblings including the proband) as well as other cancer types. Next generation sequencing (NGS) with a multiple gene panel including MMR genes showed a germline mutation in MLH1 (c.1852_1854delAAG, p.K618del) in all 3 affected family members and confirmed the diagnosis of Lynch syndrome. In addition, this mutation was also identified in a asymptomatic offspring, who was then recommended to a prophylactic measure against cancer. A personalized health care plan was implemented for monitoring the condition and progression of the affected individuals.

CONCLUSION:

Based on public database searching followed by pedigree verification, p.K618del variant in MLH1 is a pathogenic mutation, which supported the diagnosis of LS. This case highlights the importance of diagnosis and management in patients with hereditary cancer syndromes, particularly for asymptomatic family members.

KEYWORDS:

Case report; Colorectal carcinoma; Genetic counseling; Hereditary; Lynch syndrome

PMID:
29929473
PMCID:
PMC6014015
DOI:
10.1186/s12881-018-0605-x
[Indexed for MEDLINE]
Free PMC Article

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