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(A) Segregation of NBEAL1:E1155* in GRBC pedigree F22. Two sisters (diagnosed with BC at 59 and 60 years) were heterozygous carriers of the NBEAL1 stop-gain variant. Their niece, who was cancer-free at 40 years of age, was not a carrier of the variant. (B) Genomic positions of NBEAL1 LoF variants detected in GRBC (NBEAL1:E1155*) and FBRCAX (NBEAL1:p.R552*) patients. Variants were experimentally validated using Ampliseq (GRBC) and Sanger sequencing (FBRCAX).
