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

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.

Table 2 Gene detection of hereditary endometrial cancer

Parameter	Outcome
Diagnosis	Hereditary EC
Gene (NM number)	MLH1 (NM_000249.3)
Nucleotide changes	Exon 6 del
Amino acid changes	-
Gene subregion	Exon 6
Heterozygous	Heterozygous mutation
Functional changes	Deletion
Genetic model	AD
Gene mutation type	Known pathogenic mutation

EC: Endometrial cancer; AD: Autosomal dominant inheritance; MLH1: MutL homolog 1.

Table 3 Variation information of exon region and its adjacent ± 20 bp intron region in hereditary endometrial cancer

No.	Gene	Transcript	NV	AAC	GS	Heterozygous	Rs NO.	FC	MT
1	MLH1	NM_000249.3	EX6 DEL	-	EX6	Het	-	Deletion	Kv
2	MLH1	NM_000249.3	c.1151T>A	p.Val384Asp	CDS12	Het	rs63750447	Missense	Bp
3	MUTYH	NM_001128425.1	c.74G>A	p.Gly25Asp	CDS2	Het	rs75321043	Missense	Uv
4	MUTYH	NM_001128425.1	c.53C>T	p.Pro18Leu	CDS2	Het	rs79777494	Missense	Uv
5	MUTYH	NM_001128425.1	c.36+11C>T	-	IN1	Het	rs2275602	Splice	Bp
6	MUTYH	NM_001128425.1	c.1014G>C	p.Gln338His	CDS12	Het	rs3219489	Missense	Bp
7	BRCA1	NM_007294.3	c.2612C>T	p.Pro871Leu	CDS9	Het	rs799917	Missense	Bp
8	BRCA1	NM_007294.3	c.4837A>G	p.Ser1613Gly	CDS14	Het	rs1799966	Missense	Bp
9	BRCA1	NM_007294.3	c.3548A>G	p.Lys1183Arg	CDS9	Het	rs16942	Missense	Bp
10	BRCA1	NM_007294.3	c.3113A>G	p.Glu1038Gly	CDS9	Het	rs16941	Missense	Bp
11	EPCAM	NM_002354.2	c.344T>C	p.Met115Thr	CDS3	Het	rs1126497	Missense	Bp
12	MLH3	NM_014381.2	c.2531C>T	p.Pro844Leu	CDS1	Het	rs175080	Missense	Bp
13	MLH3	NM_014381.2	c.2476A>G	p.Asn826Asp	CDS1	Hom	rs175081	Missense	Bp
14	MSH2	NM_000251.2	c.211+9C>G	-	IN1	Het	rs2303426	Splice	Bp
15	MSH6	NM_000179.2	c.3438+14A>C	-	IN5	Hom	rs2020911	Splice	Bp
16	PMS2	NM_000535.6	c.1408C>T	p.Pro470Ser	CDS11	Het	rs1805321	Missense	Bp
17	PMS2	NM_000535.6	c.2570G>C	p.Gly857Ala	CDS15	Hom	rs1802683	Missense	Bp
18	PMS2	NM_000535.6	c.706-4delT	-	IN6	Het	rs6079473	Splice	Bp
19	PMS2	NM_000535.6	c.59G>A	p.Arg20Gln	CDS2	Het	rs10254120	Missense	Bp
20	PMS2	NM_000535.6	c.1621A>G	p.Lys541Glu	CDS11	Hom	rs2228006	Missense	Bp
21	PMS2	NM_000535.6	c.705+17A>G	-	IN6	Het	rs62456182	Splice	Bp
22	PMS2	NM_000535.6	c.2007-4G>A	-	IN11	Het	rs1805326	Splice	Bp
23	PMS2	NM_000535.6	c.2007-7C>T	-	IN11	Het	rs55954143	Splice	Bp
24	PTEN	NM_000314.6	c.802-3dupT	-	IN7	Het	rs762344516	Splice	Bp
25	TP53	NM_000546.5	c.215C>G	p.Pro72Arg	CDS3	Het	rs1042522	Missense	Bp

EC: Endometrial cancer; NV: Nucleotide variation; AAC: Amino acid changes; GS: Gene subregion; Rs NO.: rs number; FC: Functional changes; MT: Mutation types; Kv: Known variation; Uv: Unknown variation; Bp: Benign polymorphism; Het: Heterozygous; Hom: Homozygous.