The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

Figures & data

Table 1 Demographics, Clinical Presentation and Associated Variants

Cancer Diagnosis	Age at Diagnosis (Years)	Familial History of Cancer	Ethnicity	Variant (c.)	Variant (p.)	Type of Mutation	Prediction	ACMG Criteria	Database	Figure
Vulvar cancer	27	Breast cancer, Lymphoma, Prostate cancer, Gastric cancer, uterine cancer, testicular cancer	Hispanic	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1A
Breast cancer (HR+ HER2-)	32	Breast cancer, Lymphoma, Prostate cancer, Gastric cancer	Afro-descendant	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1A
Breast cancer (HR+ HER2-)	50	Breast cancer	Afro-descendant	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1B
Breast cancer (triple negative)	27	Colorectal cancer, neutrophilic leukemia	Hispanic	c.527A>G	p.Tyr176Cys	Missense	Pathogenic	PP5, PM1, PM2, PS3, PP3	ClinVar	2A
Breast cancer (HR- HER2+)	41	Melanoma	Hispanic	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1C
Breast cancer (HR+ HER2+)	63	Breast cancer	Afro-descendant	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1D
Breast cancer (HR+ HER2-)	65	Pancreatic cancer, breast cancer, colorectal cancer, prostate cancer, uterine cancer	Afro-descendant	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1E
Breast cancer (HR+ HER2-)	46	Ovarian cancer, gastric cancer, lung cancer, oral cavity cancer	Afro-descendant	c.1187G>A	p.Gly396Asp	Missense	Pathogenic	PP5, PS3, PP3, PM5	ClinVar	1F
Breast cancer (triple negative)	48	Lung cancer	Afro-descendant	c.527A>G	p.Tyr176Cys	Missense	Pathogenic	PP5, PM1, PM2, PS3, PP3	ClinVar	2B
Breast cancer (HR+ HER2-)	32	Breast cancer in three relatives	Afro-descendant	c.1502del	p.Gln501Argfs*70	Frameshift	Likely Pathogenic	PVS1, PM2	Novel	3A
Solitary fibrous tumor	64	No familial history of cancer	Hispanic	c.1092dupC	p.Arg365GlnfsTer164	Frameshift	Pathogenic	PVS1, PP5, PM2	ClinVar	3B

Figure 1 The figure represents the pedigree of each participant, which is correlate in Table 1. The symbols for each neoplasia type are stated (A) on the right side for (A–D). The arrow represents the proband, the line crossing the symbol represents the dead status, the unique number represent current age, and symbols with two numbers represent the current age and age of diagnosis. On the bottom of the figure the sanger sequencing showing the variant encoding the MUTYH gene for all the families is stated.

Figure 2 The figure represents the pedigree of each participant, which is correlate in Table 1. The symbols for each neoplasia type are stated (A and B) on the right side. The arrow represents the proband, the line crossing the symbol represents the dead status, the unique number represent current age, and symbols with two numbers represent the current age and age of diagnosis. On the bottom of the figure the sanger sequencing showing the variant encoding the MUTYH gene for all the families is stated.

Figure 3 The figure represents the pedigree of each participant, which is correlate in Table 1. The symbols for each neoplasia type are stated (B) on the right side for (A and B). The arrow represents the proband, the line crossing the symbol represents the dead status, the unique number represent current age, and symbols with two numbers represent the current age and age of diagnosis. On the bottom of the figure the sanger sequencing showing the variant encoding the MUTYH gene for all the families is stated.

Figure 4 The figure represents the pedigree of each participant, which is correlate in Table 1. The symbols for each neoplasia type are stated (B) on the right side for (A and B). The arrow represents the proband, the line crossing the symbol represents the dead status, the unique number represent current age, and symbols with two numbers represent the current age and age of diagnosis. On the bottom of the figure the sanger sequencing showing the variant encoding the MUTYH gene for all the families is stated.