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. 2021 Jun 29;13(13):3246. doi: 10.3390/cancers13133246

Figure 1.

Figure 1

Pedigrees of families with inherited MPN. (A) Exome sequencing of the three family members marked with an asterisk (*) was performed in order to identify the predisposing inherited variant in this family. Sequence analysis produced a shared heterozygous variant in the gene ERBB2. Genotyping of two additional family members for the ERBB2 c.3182T > C; p.L1061P variant established that it co-segregates with the cancer phenotype. (B–G) Pedigrees of the 6 additional cases of familial MPN found to have germline ERBB2 variants. (H) An MPN case with a germline ERBB2 c.3250G > T; p.D1084Y variant was noted to have a family history of breast cancer in her mother, who also carried this variant. Her sister was identified as an unaffected carrier. See Table S1 for additional pedigree information.