Figure 2 | Scientific Reports

Figure 2

From: Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service

Figure 2

Clinicopathological characteristics and familial history of all carriers of PV, LPV or VUS in BRCA1, BRCA2 or TP53 genes. Each column represents the data of a single carrier, and columns are sorted by variant classification (PV/LPV × VUS), gene, HBOC first tumor, laterality, receptor status, relatives with cancer, and relatives with HBOC cancer. All carriers presented BC, OC or pancreatic cancer as first tumors; except the carrier of BRCA1 VUS c.5348T > C, p.Met1783Thr, which presented thyroid cancer as first malignancy and BC as second. Carrier of p.Gln563Ter PV in BRCA1 (11th column) also carries a non-coding VUS in BRCA1 (c.441 + 8C > T). Gene panel size indicates if only BRCA1, BRCA2 and TP53 (= 3) were sequenced, or if the gene panel included other genes (totaling 16, 25 or 39 genes); but only 30 patients in the cohort were sequenced for genes beyond BRCA1/2 and TP53 (see Fig. 1). Carrier of p.Ile943Val VUS in BRCA2 (55th column) is the only patient with PV/LPV or VUS in BRCA1, BRCA2 and TP53 genes that also carries a PV/LPV in another gene (ATM PV c.640del, p.Ser214fs). See colored legend for details on each clinicopathological category. IDC: invasive ductal carcinoma. ILC: invasive lobular carcinoma. Localized: stages 0, I or IIA. Regional: stages IIB or III. Distant: stage IV.

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