Table 1 BRCA 1 and BRCA 2 mutations found in a Greek population. (Mutations repeatedly found in multiple papers share the same font colors)
Author | Pathogenic mutation | Sample/methods used | Results | |
|---|---|---|---|---|
BRCA1 | BRCA2 | |||
Konstantopoulou et al., 2000 [12] | 3741insA, 1623del5-TTAAA | 30 breast/ovarian cancer pts with family history | 5 mutations & 6 polymorphisms | |
5382insC, 3099delT, 3277insG | ||||
PTT, direct sequencing | ||||
Armakolas et al., 2002 [18] | 2024del5 3058delA 6024del TA 4147del G | 55 bc pts: 27 with family history,28 sporadic bc | 4 different mutations in 5 pts | |
SSCP, sequencing | ||||
Ladopoulou et al. 2002 [14] | 5382insC non-sense R1751X 5586G > A | 2024del5 3034del4 6631del5 | 85 pts with positive history | Mutations in 14 families (16.5 %) |
PTT, SSCP, direct sequencing | ||||
Kroupis et al., 2003 [13] | 5382insC | Study of one affected family, | ||
Belogianni et al., 2004 [16] | exon 20: 5331G > A, 5382insC , entire exon 20 deletion exon 23:5586 G > A | 25 individuals of 18 fms/12 high risk | 5 fms were positive for mutation | |
dHPLC, MLPA, Long PCR | ||||
Kataki et al., 2005 [19] | 2306A > T, 4750C > A, 5129A > C, 5627G > T, IVS8-19delT, 2196G > A, 4793A > G, 4956A > G, 4610 T > C | 4147delG (2 pts), 3058delA, 6024delTA, 2024del5, 385A > G, 360 T > G | 94 individuals with low or moderate risk to be carriers | BRCA1: 5 unclassified variants & 4 polymorphisms BRCA 2: 5 unclassified variants & 1 polymorphism |
PTT, SSCP , sequencing | ||||
Armaou et al., 2007 [15] | exon 20:71146-75319del, 71618-74863del exon 24:82651-87079del, 82651-87079del | 95 pts with positive family history (one case of sporadic Ca) | ||
QMPSF, diagnostic PCR primers | ||||
Anagnostopoulos et al., 2008 [20] | 5331G > A (G1738R) | 287 breast/ovarian cancer families Study specific for G1738R mutation/PCR sequencing | ||
Konstantopoulou et al., 2008 [21] | exon 20: 5382insC, 5331G > A (G1738R) | 3058delA 2024del5 | 127 bc/ovarian cancer fms | 16 fms BRCA1 mut & 5 fms BRCA2 mut |
diagnostic PCR primers, dHPLC | ||||
Armaou et al. 2009 [23] | c.5266dupC, G1738R, and two deletions of exons 20 and 24 | 987 unselected pts examined for specific mutations | 2.6 % carriers | |
diagnostic PCR primers, PCR | ||||
Koumpis et al. 2011 [22] | exon 20: 5331G > A, 3.2 kb deletion exon 11: 3819delGTAAA | exon 11: 3782del10, 4512insT | 127 unselected sporadic bc patients | 6 carriers found (no family history) |
diagnostic PCR primers, PCR, ABI, PTT | ||||
Pertesi et al. 2011 [24] | exon 20:del D17S579 - D17S1299 (3.9 Mb) exon 24: del D17S951 , D17S1299 (2.9 Mb) | Study of affected families | ||
diagnostic PCR primers (10 short tandem repeat markers) | ||||
Fostira et al., 2014 [25] | exon 11- (c.3178G > T) | Case report of a carrier with negative family history | ||
Konstantopoulou et al. 2014 [26] | exon 5: (300 T > G - C61G) exon 7: (449delG-ter118)* exon 11: (1329insCT)*, (1623del5), (1624 T > G - L502X)*, (1806C > T - Q563X)*, (2072del4), (2767insGGCA)*, (3082C > A - S988X)* ,(3297G > T - E1060X), (3494delTC), (3726C > T - R1203X), (3741delA)*, (3819del5), (3874del4) exon 12: (4286delTG)* exon 14: (4510delCTAinsTT) exon20: (5331G > A - G1738R), (5370C > T - R1751X), (5382insC), (g.71660_74860del3200) exon 21: (5447delC) exon 22: (IVS22 + 5G > C) exon 23: (5550C > T -Q1811X)*, (5586G > A), (g.80280_91331del11052) exon24: (5611delC), (g.82651_87079del4429_ins5) | exon8- (886delGT) exon 11: (2567C > G - S780X), (3036del4), (4643del4), (4997delA), (5950delCT), (6718C > T - Q2164X), (6828delTT) exon 17: (IVS16-2A > T)*, (8204G > A) exon 19: (8592G > A - W2788X) exon 22: (9158delA) exon23: (9218del32) exon 24: 9325insA exon 25: 9604C > T - Q3126X) exon 27: (9976insT) | 473 breast/ovarian cancer patients with family history | 32 % mutation prevalence. 44 mutations found (6 BRCA1 recurrent/founder mutations dominate the observed spectrum-58.5 % of all mutations found) |
diagnostic PCR primers, direct sequencing , MLPA | ||||