BRCA1 c.4987-1352A > G cosegregates with breast (Br), ovarian (Ov), pancreatic (Pan), and metastatic prostate (Pr) cancer in families CF3679 and CF6196. (A) Filled circles and squares represent females and males with a BRCA1-associated cancer; gray symbols represent persons with other cancers, namely, lymphoma (Lym) and bladder (Bldr). (VN) heterozygosity for the variant, (NN) homozygosity for the normal reference allele. Ages are at diagnosis for cancer patients, at our most recent contact for unaffected living relatives, and at death for relatives who died of a cause other than cancer. (B) IGV images of long-read genomic sequence show the position of the genomic variant (small red arrow) at Chr 17: 43,069,047 (top) and of long-read cDNA sequence including the pseudoexon at Chr 17: 43,069,052–43,069,125 (bottom).
