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Table 1 Clinical and molecular description of the BRCA1 , BRCA2, CHEK2 1100delC and TP53 R337H mutation carriers

From: Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

Proband Age of onset Tumor Clinical criteria Gene Alteration Mutation type Exon Reference
SM-01 39 Breast HBOC BRCA1 c.5203delTT Frameshift 18 BIC
SM-17 49/51 Ovarian/Breast HBOC BRCA1 c.3376 T > G; p.L1086X Nonsense 11 BIC
SM-25 69 Breast HBOC BRCA1 c.120A > G; p.M1V Missense 2 BIC
SM-69 33 Breast HBOC BRCA1 c.5242C > A; p.A1708E Missense 18 BIC
SM-74 50 Hemangioblastoma HBOC BRCA1 c.2080delA Frameshift 11 BIC
MO-07 34 Breast HBOC BRCA1 c.5382insC Frameshift 20 BIC
MO-09 42 Breast HBOC BRCA1 c.5382insC Frameshift 20 BIC
MO-45 48 Breast HBOC BRCA1 c.5382insC Frameshift 20 BIC
MO-13 32/44 Breast/Skin HBOC BRCA1 c.4831del5 Frameshift 16 BIC
MO-26 37 Breast HBOC BRCA1 c.1499insA Frameshift 11 BIC
MO-31 38/63 Breast/Peritoneal HBOC BRCA1 c.5563G > A; p.W1815X Nonsense 23 BIC
MO-37 (-) Breast HBOC BRCA1 c.3759G > T; p.E1214X Nonsense 11 BIC
MO-38 42/44 Breast/Breast HBOC BRCA1 c.307 T > A; p.L63X Nonsense 5 BIC
SM-50 36/47 Breast/Breast HBOC BRCA1 c.4794 + 1G > A Splice site 15 BIC
SM-80 42/48 Breast/Ovarian HBOC BRCA1 c.1446 A > T; p.K443X Nonsense 11 Current study
SM-81 55 Fallopian Tube HBOC BRCA1 c.5582insT Frameshift 23 Current study
SM-89 40 Breast HBOC BRCA1 c.4406 C > A; p.Y1429X Nonsense 13 Current study
MO-15 43/56 Breast/Ovarian HBOC BRCA1 c.560 + 2 T > A Splice site 7 Carraro et al. [28]
M0-28 48 Breast HBOC BRCA1 Exon 24 amplification LGR 24 Current study
SM-03 36/36 Breast/Ovarian HBOC BRCA1 Exon 16–17 deletion LGR 16-17 BIC
SM-08 33 Breast HBOC BRCA2 c.6174delT Frameshift 11 BIC
SM-46 32 Breast HBOC BRCA2 c.9709 A > T; p.K3161X Nonsense 25 BIC
SM-61 51 Breast HBOC BRCA2 c.9709A > T; p.K3161X Nonsense 25 BIC
SM-104 32 Breast HBOC BRCA2 c.3034del4 Frameshift 11 BIC
MO-02 53/63 Breast/Breast HBOC BRCA2 c.9610C > T, p.R3128X Nonsense 25 BIC
SM-53 30/49 Breast/Thyroid HBOC BRCA2 c.6242del4 Frameshift 11 Current study
SM-84 35 Breast HBOC BRCA2 c.8423 T > G; p.L2732X Nonsense 18 Current study
MO-41 47 Breast HBOC CHEK2 c.1100delC; p.Thr367MetfsX15 Frameshift 10 BIC
SM-31 49 Breast HBOC TP53 c.1010G > A; p.R337H Missense 10 IARC TP53
SM-31 49 Breast HBOC TP53 c.1010G > A; p.R337H Missense 10 IARC TP53
SM-82 29 Breast HBOC TP53 c.1010G > A; p.R337H Missense 10 IARC TP53
  1. (-) Not available; LGR: Large Genomic Rearrangement; BIC: Breast cancer information core database; IARC TP53: IARC TP53 database.