Table 1.
Data of females with BRCA1 and BRCA2 double heterozygosity published in the literature. WT: Wild Type; ND: Not Determined; DH: double heterozygosity; breast u.: breast unilateral; breast b.: breast bilateral; ovarian b.: ovarian bilateral; Mel: melanoma.
| Geographic Localization/Ethnic Group | BRCA1 Mutation | BRCA2 Mutation | Sex | Inheritance | Proband Cancer/Age of Onset (Years) [Relative with DH] | References | |
|---|---|---|---|---|---|---|---|
| Mother | Father | ||||||
| Scottish | c.2389G>T | c.3067_3068insA | F | WT | ND | Breast 35 | [20] |
| German descent | c.5080G>T | c.6405_6409delCTTAA. | M | BRCA1 | ND | Asymptomatic 36 [Sister asymptomatic 34] [Brother asymptomatic 30] | [21] |
| Australia (no Jewish ancestry) | c.3769_3770delGA | c.5946_5946delT | F | WT | BRCA2 | Breast < 40 | [22] |
| Spain | c.5123C>A | c.6275_6276delTT | F | BRCA1 BRCA2 | - | Breast 28 [Mother asymptomatic 70] [Sister asymptomatic 40] [Cousin asymptomatic 47] [Cousin asymptomatic 41] [Uncle prostate 66] [Aunt breast 70] [Aunt breast 66] | [23] |
| Korea | c.4981G>T | c.5946_5949delTGGA | F | BRCA1 BRCA2 | - | Breast 33 [Mother stomach 62] | [17] |
| Korea | c.1516_1520del5 | c.2798_2799delCA | F | ND | ND | Breast 26 | |
| Korea | c.1656_1656delT | c.4599A>C | F | ND | ND | Breast 37 | |
| Netherlands | c.2685_2686delAA | c.3487_3487delG | F | ND | ND | Ovarian 40, breast 45 | [9] |
| Netherlands | c.2685_2686delAA | c.4449_4449delA | F | ND | ND | Breast 28 | |
| European | c.962G>A | c.3170_3174delAGAAA | F | ND | ND | Breast 37 | [2] |
| Italy | c.4285_4286insG | c.7738C>T | F | ND | ND | Breast 37 | [24] |
| Australia | c.3331_3334delCAAG | c.631+2T>G | F | ND | ND | Breast 34, colon 35, breast 53 [Sister asymptomatic 65] | [25] |
| Italy | c.5263_5264insC | c.5796_5797delTA | F | BRCA1 | BRCA2 | Breast 38, ovarian 42 | [26] |
| Italy | c.835_835delC | c.8195T>G | F | ND | ND | Breast 43 | [27] |
| Italy | c.3916_3917delTT | c.5379_5379delG | F | WT | ND | Breast 30, ovarian 36 | |
| Italy | c.1687C>T | c.6469C>T | F | ND | ND | Breast 46, ovarian 58 | |
| Italy | c.2405_2406delTG | c.4284_4285insT | F | ND | ND | Breast and ovarian 52 | |
| Denmark | c.5096G>A | c.631+4A>G | F | - | BRCA1 BRCA2 | Breast 53, ovarian 59 [Father breast 76] [Son and daughter asymptomatic] | [28] |
| Caucasian | c.1961_1961delA | c.1444_1444delC | F | ND | ND | Ovarian b. 50 | [29] |
| Caucasian (maternal Ashkenazi ancestry) | c.5266_5267insC | c.4829_4830delTG | F | ND | ND | Breast u. 40 | |
| Korea | c.3627_3628insA | c.6724_6725delGA | F | ND | ND | Breast 26 | [19] |
| Korea | c.390C>A | c.3018_3018delA | F | ND | ND | Breast 45 | |
| Korea | c.5030_5033delCTAA | c.1399A>T | F | ND | ND | Breast 35 | |
| Japan | c.188T>A | c.5576_5579delTTAA | F | BRCA1 BRCA2 | Breast 55 [Father asymptomatic 51] [Cousin breast 41; Endometrial cancer 46] | [30] | |
| Afrikaners | c.2635G>T | c.7934_7934delG | F | BRCA1 | BRCA2 | Breast 42 [Healthy second cousin 49] | [31] |
| Germany | c.5263_5264insC | c.5645C>A | F | WT | BRCA1 BRCA2 | Breast b. 37; Ovarian b. 63 [Father prostate 68] | [32] |
| Germany | c.66_67delAG | c.5722_5723delCT | F | BRCA1 | BRCA2 | Breast u. 32 | |
| Germany | c.962G>A | c.2231C>G | F | BRCA1 BRCA2 | WT | Breast b. 31, 35 [Mother breast 40] | |
| Germany | c.3910_3910delG | c.2830A>T | F | BRCA1 BRCA2 | WT | Breast u. 39 [Mother breast 34; another cancer not reported 35] | |
| Germany | c.5193+1_5193+1delG | c.658_659delGT | F | ND | ND | Coecum 58, ovarian 61 | |
| Germany | c.3700_3704delGTAAA | c.1813_1814insA | F | ND | ND | Cervix 26, breast 40 | |
| Italy | c.547+2T>A | c.2830A>T c.426-57A>G | F | - | BRCA1 BRCA2 | Breast 35 [Father asymptomatic 72] | [33] |
| France | c.1016_1017insA | c.6814_6814delA | F | BRCA1 | WT | Breast 46 | [8] |
| Italy | c.1687C>T | c.9976A>T | F | BRCA1 | ND | Breast u (40), breast u (47), breast b (54), Mel (54) [Asymptomatic daughter (36)] | This report |