Table 1.
Distribution of the 25 Bergamo province (BGP) pathogenic variants (PVs).
| PVs | Total No. of Carriers | Carrier Distribution (No. of Carriers; Freq%) | Suggested Origin | |
|---|---|---|---|---|
| BGP | Regions | |||
| Common (10) | ||||
| BRCA1:c.190T>C | 55 | (34; 34.0) | Molise (1; 100), Trentino Alto Adige (1; 11.1), Veneto (2; 8.3), Friuli Venezia Giulia (1; 7.1), Lombardy non-BGP (14; 4.8), Piedmont (2; 1.2) | BGP 1 |
| BRCA2:c.5904_5907delAGTC | 15 | (11; 11.0) | Lombardy non-BGP (4; 1.4) | BGP 1 |
| BRCA1:c.2727_2730delTCAA | 15 | (3; 3.0) | Lombardy non-BGP (12; 4.1) | BGP/Lombardy 1 |
| BRCA2:c.6469C>T | 7 | (3; 3.0) | Lombardy non-BGP (4; 1.4) | BGP 1 |
| BRCA2:c.6625dupA | 4 | (3; 3.0) | Lombardy non-BGP (1; 0.3) | BGP 1 |
| BRCA2:c.8878C>T | 34 | (8; 8.0) | Liguria (2; 12.5), Marche (1; 8.3), Lombardy non-BGP (15; 5.1), Veneto (1; 4.2), Piedmont (6; 3.6), Emilia Romagna (1; 2.4) | BGP/Liguria 1 |
| BRCA1:c.5062_5064delGTT | 16 | (6; 6.0) | Trentino Alto Adige (2; 22.2), Veneto (2; 8.3), Lombardy non-BGP (5; 1.7), Piedmont (1; 0.6) | BGP/Trentino Alto Adige 1 |
| BRCA1:c.3481_3491del11 | 9 | (4; 4.0) | Emilia Romagna (3; 7.3), Lombardy non-BGP (2; 0.7) | BGP/Emilia Romagna 2 |
| BRCA1:c.5030_5033delCTAA | 21 | (4; 4.0) | Liguria (3; 18.8), Piedmont (6; 3.6), Sicily (2; 3.2), Emilia Romagna (1; 2.4), Lombardy non-BGP (5; 1.7) | BGP/Liguria 2 |
| BRCA2:c.7180A>T | 20 | (4; 4.0) | Friuli Venezia Giulia (1; 7.1), Lombardy non-BGP (12; 4.1), Piedmont (3; 1.8) | BGP/Friuli Venezia Giulia 1 |
| Rare (15) | ||||
| BRCA1:c.406delA | 3 | (2; 2.0) | Lombardy non-BGP (1; 0.3) | BGP 1 |
| BRCA2:c.2748delT | 3 | (2; 2.0) | Lombardy non-BGP (1; 0.3) | BGP 1 |
| BRCA2:c.5473dupG | 2 | (2; 2.0) | None | BGP 1 |
| BRCA2:c.8085_8086insGG | 2 | (2; 2.0) | None | BGP 1 |
| BRCA1:c.53T>C | 1 | (1; 1.0) | None | BGP 1 |
| BRCA1:c.1961dupA | 1 | (1; 1.0) | None | BGP 2 |
| BRCA1:c.2960dupA | 6 | (1; 1.0) | Lombardy non-BGP (5; 1.7) | BGP/Lombardy 1 |
| BRCA1:c.3257T>A | 8 | (1; 1.0) | Lombardy non-BGP (5; 1.7), Piedmont (2; 1.2) | BGP/Lombardy 1 |
| BRCA2:c.7921_7926delGAATTTinsAG | 2 | (1; 1.0) | Lombardy non-BGP (1; 0.3) | BGP 1 |
| BRCA2:c.7976+1G>A | 2 | (1; 1.0) | Lombardy non-BGP (1; 0.3) | BGP 2 |
| BRCA2:c.8021dupA | 1 | (1; 1.0) | None | BGP 1 |
| BRCA2:c.6468_6469delTC | 15 | (2; 2.0) | Veneto (2; 8.3), Marche (1; 8.3), Tuscany (1; 4.3), Campania (3; 7.5), Apulia (3; 2.1), Piedmont (3; 1.8) | BGP/Campania 1 |
| BRCA2:c.1813delA | 2 | (1; 1.0) | Basilicata (1; 11.1) | BGP/Basilicata 2 |
| BRCA1:c.514delC | 15 | (1; 1.0) | Sicily (8; 12.7), Lombardy non-BGP (4; 1.4), Apulia (1; 1.0), Piedmont (1; 0.6) | Sicily 1 |
| BRCA1:c.5266dupC | 84 | (1; 1.0) | Apulia (31; 30.1), Abruzzo (2; 15.4), Trentino Alto Adige (1; 11.1), Sicily (5; 7.9), Calabria (3; 7.7), Campania (3; 7.5), Lombardy non-BGP (22; 7.5), Piedmont (12; 7.2), Friuli Venezia Giulia (1; 7.1), Liguria (1; 6.3), Emilia Romagna (2; 4.9) | Apulia 2 |
1 Nineteen PVs found exclusively or prevalently in Italy, or rarely found or not found at all in previously published BRCA1/2 PV distribution studies (Laitman et al.; Rebbeck et al. see reference list). 2 Six PVs found in many countries as reported in one or both of the two distribution studies.