PMC6584812_01
(A) Chromatogram of the RET Cys634Trp mutation identified in the proband. (B) Chromatogram of the frame shift BRCA1 Ile90Ser mutation identified in the proband. (C) Pedigree of the proband's family. The proband (II/1) was 16 years old at the time of the diagnosis (currently 22 years old), while his brother (II/2) was 36 years old (currently 42 years old). The proband's brother's sons were 4 years old (III/1) (currently 10 years old) and 6 years old (III/2) (currently 12 years old) at the time of the genetic counselling. The proband's mother (I/2) was 34 years old at the time of the breast cancer diagnosis and died at the age of 45 due to brain metastases. The proband's aunt (I/1) was 36 years old at the time of the breast cancer diagnosis and died at the age of 42 (d, age at death; y, years).
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After genetic counseling, the patient underwent genetic testing of RET gene, and a pathogenic heterozygous mutation (p.Cys634Trp) was identified (Figure 1A). Accordingly, the mutation analysis of BRCA1/2 genes identified a pathogenic, heterozygous frameshift BRCA1 mutation (BRCA1 Ile90Serfs, NC_000017.10:g.41256905_41256917 delTGAAAAGCACAAA) in the proband (Figure 1B). The pedigree of the family is shown in Figure 1C.