Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

Table 2 Detailed description of BRCA1 c.5266dup-positive probands and their families

						Prior Probability of Mutation in a *BRCA* gene
Case #	Cancer diagnosis (index-case)	Age at diagnosis (ys)	Cancer family history*	ASCO criteria	Limited Family Structure	Myriad Prevalence Tables (%)	Couch Prediction Model (%)
1-RJ	Breast	33	MAT Br (F-45)	Yes	No	16.3	20.0
2-RJ	Ovarian	47	PAT Ov (60), Br (F-30), End (64)	Yes	No	46.8	44.0
3-RS	Ovarian	52	MAT Br (F-44), Ov (F-76), Ov (F-66), Ut (F-78), Ut (N/A), Ga (M-68), CRC (M-69), HeN (M-N/A), HeN (M-75)	No	No	46.8	43.0
			PAT Lu (M-N/A), CRC (M-N/A), CRC (F-N/A), Ut (35), Br (M-62), Ga (M-N/A), Br (F-36), Bilat Br (F-45), Br (F-44), Br (F-45)	Yes	No	40.8	33.0
4-RJ	Bilateral Breast	45 and 50	MAT BilatBr (F-45,50), Ov (39) Br (F-49), Bilat Br (F-47,50)	Yes	No	40.7	31.0
5-RJ	Bilateral Breast	46 and 47	PAT Lu (M-N/A), Ga (M-N/A) CRC (M-N/A)	No	Yes	6.9	9.0
6-RJ	Bilateral Breast	33 and 38	-	No	Yes	6.9	15.0
7-RS	Bilateral Breast	35 and 45	MAT Ov (F-58), Ov (F-49), Br (F-90) Br (F-49), Ga (M-70), Liv (M-70)	Yes	No	40.7	47.0

Legend: RJ: family recruited from Rio de Janeiro; RS = family recruited from Porto Alegre;
(*) MAT = cancer history in maternal side of the family, PAT = cancer history in paternal side of the family; other cancer diagnoses in family are indicated by the abbreviated cancer type (Br = breast, Lu = lung; Ga = gastric Ov = ovarian; Prost = prostate; Esoph = esophageal; Liv = liver; End = endometrial; CRC = Colorectal; HeN = head and neck cancer; Ut = uterine cancer, not defined whether cervix or endometrium) followed by followed by sex (M = male, F = female) and age at diagnosis (N/A = not available).

ISSN: 1897-4287