case_images: PMC8030582_01
case_images: Familial Pedigree of case. The proband is indicated by an arrowhead. Squares represent males, circles represent females. Solid symbols represent affected individuals. Symbols with slash indicate deceased individuals. Age at cancer diagnosis is reported following the corresponding disease and the age of death is reported on the top right corner of symbol. GC, gastric cancer; CRC, colorectal cancer; OC, ovarian cancer; LC, lung cancer.
case_images: fonc-11-658389-g001.jpg
case_images: PMC8030582_01_fonc-11-658389-g001.jpg
case_images: f1
case_images: The reported patient was a 20-year-old male (Figure 1, III2) with a family history of cancers.
case_images: Demonstration of NGS results of APC and BRCA1 germline mutations. (A) The heterozygous loss of exon 15 in APC gene was detected in the proband; (B) The same heterozygous loss of exon 15 in APC gene was also detected in the 20-year old male patient; (C) The heterozygous p.lle1824AspfsX3 in BRCA1 gene was detected in the 20-year old male patient.
case_images: fonc-11-658389-g002.jpg
case_images: PMC8030582_01_fonc-11-658389-g002.jpg
case_images: f2
case_images: The reported patient was a 20-year-old male (Figure 1, III2) with a family history of cancers. The copy number variation analysis based on the sequencing depth revealed a copy number 1 for the exon 15 in APC gene, indicating a heterozygous loss of APC exon 15 (exon15cn_del, Figure 2A). NGS with the same 53-gene panel performed on the reported patient (III2) and his sister (III1) revealed existence of the germline APC exon15cn_del mutation in both (Figure 2B). However, in addition to APC mutation, the male patient also harbored an open reading frame shift mutation in BRAC1 (c. 5470_5477delATTGGGCA, p.lle1824AspfsX3, Figure 2C).
case_images: PMC8030582_02