Table 6.
Biallelic and locus heterogeneity mutations reported in LA breast cancer cases.
| Patient ID | Gene 1 | Gene 2 | Age Onset | Country | Family History | Subtype | Reference |
|---|---|---|---|---|---|---|---|
| NA | BRCA1: c.1674del (pathogenic) |
MSH6: c.2419G>A (uncertain significance) |
NA | Colombia | YES | NA | [92] |
| NA | BRCA1: c.1674del (pathogenic) |
PMS2: c.2395C>T (uncertain significance); RAD51C: c.492T>G (uncertain significance) |
NA | Colombia | YES | NA | [92] |
| 15 | PALB2: c.1240C>T (pathogenic) |
PMS2: c.241G>A (uncertain significance) |
36 | Colombia | YES | ER+, HER2-, invasive ductal carcinoma | [92] |
| 8 | BRCA2: c.5616-5620del (not reported) |
SMAD4: c.677C>T (conflicting interpretations) |
35 | Colombia | YES | HR+, HER2- invasive ductal carcinoma | [92] |
| NA | BRCA1: c.4357+1G>T (pathogenic) | BRCA2: c.6405_6409delCTTAA (pathogenic) | 38 | Brazil | NA | ipsilateral BC | [63] |
| NA | BRCA1: LGR (deletion of exons 4–6) |
BRCA2: c.9004G>A (conflicting interpretation) |
43 | Brazil | NA | NA | [63] |
| NA | BRCA2: c.8878C>T (pathogenic), c.9699_9702delTATG (pathogenic) |
52 | Brazil | NA | NA | [63] | |
| CM001 | BRCA1: c.1129_1135insA (not reported), c.4063_4065delAAT (conflicting interpretations) | 37 | Venezuela | YES | ER+, PR+ | [114] | |
| CM055 | BRCA1: c.1129_1135insA (not reported), c.4063_4065delAAT (conflicting interpretations) | 48 | Venezuela | YES | ER-, PR- | [114] | |
| CM031 | BRCA2: c.1282T>C (not reported), c.3479G>A (conflicting interpretations) |
49 | Venezuela | YES | NA | [114] | |
| 5 | BRCA2: c.865A>C (benign), c.2971A>G(benign), c.8851G>A (benign) |
33 | Mexico | NA | ductal | [87] | |
| 12 | BRCA1: c.2245G>T (uncertain significance) |
BRCA2: p.Ile3412Val (benign) | 34 | Mexico | NA | ductal | [87] |
| 7 | BRCA1: c.442-34C>T (benign) |
BRCA2: c.865A>C (benign), c.2971A>G (benign) |
34 | Mexico | NA | ductal | [87] |
| 17 | BRCA1: c.3548A>G (benign), c.442-34C>T (benign) |
30 | Mexico | YES | ER+, PR+, HER2- | [89] | |
| A11 | BRCA1: c.4308T>C (benign), c.442-34C (not reported), c.5152+66G>A (benign), c.548-58delT (benign) |
BRCA2: c.426+67A>C (not reported), c.426-89T>C (benign), c.7435+53C>T (benign) | 12 | Argentina | YES | TNBC, Secretory carcinoma | [101] |
| A17 | BRCA1: c.4308T>C (benign), c.5152+66G>A (benign), c.548-58delT (benign) |
25 | Argentina | NO | PR+, ER+, HER2+, infiltrating ductal carcinoma | [101] | |
| A18 | BRCA1: c.442-34T>C (not reported) |
BRCA2: c.7469T>C (benign), c.681+56C>T (benign), c.7242A>G (benign) |
21 | Argentina | NO | ER+, PR+ HER2-, infiltrating lobular carcinoma | [101] |
() Pathogenicity: ClinVar; NA: Not Available; LGR: Large Genomic Rearrangements.