MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature

doi:10.12998/wjcc.v10.i20.7105

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World Journal of Clinical Cases

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Jul 16, 2022; 10(20): 7105-7115
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7105

Table 1 Demographic characteristics

Parameter	Outcome
Sex	Female
Age (yr)	57
Sample type	Peripheral venous blood
Genes	EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PTEN, MUTYH, BRCA1, MLH3
Length of the target region (bp)	49287
Target area coverage	100%
Average depth of target area (×)	608.777386
Average depth of target area > 30 × the proportion of sites	99.78%
Detection range	Exon and its adjacent ± 20 bp intron region

EPCAM: Epithelial cell adhesion molecule; MLH1: MutL homolog 1; MSH2: MutS homolog 2; MSH6: MutS homolog 6; PMS2: PMS1 homolog 2; STK11: Serine-Threonine Kinase 11; TP53: tumor protein 53; PTEN: Phosphatase and tensin homolog; MUTYH: Mut Y homolog; BRCA1: Breast cancer gene 1; MLH3: MutL homolog 3.

Citation: Zhang XW, Jia ZH, Zhao LP, Wu YS, Cui MH, Jia Y, Xu TM. MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature. World J Clin Cases 2022; 10(20): 7105-7115
URL: https://www.wjgnet.com/2307-8960/full/v10/i20/7105.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i20.7105