Table 2.
Clinical histories of mutation carriers (N = 97)
| Positive gene(s) | Pathogenic variant(s) | First breast cancer age | Bilateral/multiple breast cancers | Other cancer(s) | Family history of MBCa | Ethnicity | Notes |
|---|---|---|---|---|---|---|---|
| ATM | p.K2756* | 70–79 | No | Liver/melanoma/prostate | NP | Caucasian | |
| ATM | p.R2832C | 60–69 | No | No | Caucasian | ||
| ATM | c.901+1G>A | 70–79 | No | No | Hispanic | ||
| ATM/ATM | c.5763-1050A>G/c.8418+5_8418+8delGTGA | 50–59 | No | No | Caucasian | AT clinical dx | |
| ATM/BRCA2 | p.W2638*/c.5616_5620delAGTAA | 70–79 | No | Prostate | No | African American | |
| ATM/BRCA2 | p.Q2651*/p.Q548* | 80–89 | No | Skin | No | Caucasian | |
| BARD1 | p.Q564* | 70–79 | No | NP | Caucasian | ||
| BARD1/PALB2 | c.1935_1954dup20/c.109-2A>G | 50–59 | No | Yes | Unknown | ||
| BRCA1 | EX11_13del | 50–59 | No | No | Caucasian | ||
| BRCA1 | p.C61G | 60–69 | No | No | Caucasian | ||
| BRCA1 | EX11_13del | 60–69 | No | No | Caucasian | ||
| BRCA1 | c.5266dupC | 60–69 | No | No | Caucasian | ||
| BRCA1 | c.3481_3491del11 | 60–69 | No | Liver | No | Caucasian | |
| BRCA1/CHEK2 | c.5177_5180delGAAA/c.1100delC | 40–49 | No | No | African American | ||
| BRCA2 | 5′UTR_EX1del | 50–59 | No | Bladder | NP | Caucasian | |
| BRCA2 | c.5576_5579delTTAA | 60–69 | No | NP | Caucasian | ||
| BRCA2 | c.9253dupA | 60–69 | No | NP | African American | ||
| BRCA2 | p.R2520* | 60–69 | Yes | NP | Middle Eastern | ||
| BRCA2 | c.1813dupA | 70–79 | No | Prostate | NP | Caucasian | |
| BRCA2 | 5′UTR_EX1del | 60–69 | No | Gastroesophageal | No | Caucasian | |
| BRCA2 | c.518delG | 60–69 | No | Leukemia | No | African American | |
| BRCA2 | c.1296_1297delGA | 60–69 | No | No | Caucasian | ||
| BRCA2 | p.D2723H | 30–39 | No | No | Caucasian | ||
| BRCA2 | c.7865dupA | 40–49 | No | Bladder | No | Asian | |
| BRCA2 | c.4456_4459delGTTA | 40–49 | Yes | No | African American | ||
| BRCA2 | c.3257_3258delTA | 40–49 | Yes | No | African American | ||
| BRCA2 | c.5164_5165delAG | 50–59 | No | No | African American | ||
| BRCA2 | c.5722_5723delCT | 50–59 | No | Tonsil/NOS | No | Caucasian | |
| BRCA2 | c.5946delT | 50–59 | No | Ureter | No | Ashkenazi Jewish | |
| BRCA2 | 5′UTR_EX15del | 50–59 | No | No | Ashkenazi Jewish | ||
| BRCA2 | c.8297delC | 50–59 | No | Lymphoma | No | Caucasian | |
| BRCA2 | c.8297delC | 50–59 | No | Skin | No | Caucasian | |
| BRCA2 | c.8331+1G>A | 50–59 | No | Pancreas/melanoma | No | Caucasian | |
| BRCA2 | p.E1953* | 50–59 | No | No | Caucasian | ||
| BRCA2 | c.6938-1G>A | 50–59 | No | Tonsil | No | Mixed ethnicity | |
| BRCA2 | c.5799_5802delCCAA | 60–69 | No | No | Hispanic | ||
| BRCA2 | c.5130_5133delTGTA | 60–69 | No | No | Caucasian | ||
| BRCA2 | 5′UTR_EX1del | 60–69 | No | No | Caucasian | ||
| BRCA2 | c.6676_6677delGA | 60–69 | No | No | Caucasian | ||
| BRCA2 | c.5722_5723delCT | 60–69 | No | Prostate | No | Caucasian | |
| BRCA2 | c.7977-1G>C | 60–69 | No | Yes | Caucasian | ||
| BRCA2 | c.6591_6592delTG | 60–69 | No | No | Caucasian | ||
| BRCA2 | c.4940_4941delCA | 60–69 | No | No | Mixed ethnicity | ||
| BRCA2 | p.E1308* | 60–69 | No | No | Unknown | ||
| BRCA2 | c.1813dupA | 60–69 | No | No | Caucasian | ||
| BRCA2 | c.5350_5351delAA | 60–69 | Yes | No | Caucasian | ||
| BRCA2 | p.V159M | 60–69 | No | No | Hispanic | ||
| BRCA2 | c.9117G>A | 60–69 | No | No | Caucasian | ||
| BRCA2 | p.R2336P | 60–69 | No | No | Other | ||
| BRCA2 | c.8374_8384del11insAGG | 60–69 | No | Prostate | No | Caucasian | |
| BRCA2 | p.R2520* | 70–79 | No | Prostate | Yes | Caucasian | |
| BRCA2 | p.E3111* | 70–79 | Yes | Yes | African American | ||
| BRCA2 | c.4876_4877delAA | 70–79 | Yes | Colon/lymphoma | No | Caucasian | |
| BRCA2 | c.778_779delGA | 70–79 | No | No | Caucasian | ||
| BRCA2 | p.R2659K | 70–79 | No | Prostate | No | Caucasian | |
| BRCA2 | c.3975_3978dupTGCT | 70–79 | No | No | Caucasian | ||
| BRCA2 | p.Q2859* | 70–79 | No | No | Caucasian | ||
| BRCA2 | p.E49* | 70–79 | No | No | Mixed ethnicity | ||
| BRCA2 | c.9435_9436delGT | 70–79 | No | Melanoma/skin | No | Caucasian | |
| BRCA2 | c.6068_6072delACCAG | 70–79 | No | Bladder | No | Caucasian | |
| BRCA2 | c.1929delG | 70–79 | No | Melanoma/skin | No | Caucasian | |
| BRCA2 | c.3975_3978dupTGCT | 70–79 | No | Colon/lung | Yes | Unknown | |
| BRCA2 | p.Q3026* | 90–99 | No | Yes | Mixed ethnicity | ||
| BRCA2 | p.R2520* | 90–99 | No | No | Caucasian | ||
| BRCA2 | c.5946delT | NOS | No | No | Unknown | ||
| BRCA2 | c.4876_4877delAA | NOS | Yes | No | Hispanic | ||
| BRCA2/BRIP1 | c.2808_2811delACAA/p.R798* | 70–79 | No | Yes | Caucasian | ||
| CHEK2 | c.591delA | 60–69 | No | NP | Caucasian | ||
| CHEK2 | p.R117G | 40–49 | No | No | Caucasian | ||
| CHEK2 | c.1100delC | 40–49 | No | No | Caucasian | ||
| CHEK2 | c.1100delC | 40–49 | No | No | Caucasian | ||
| CHEK2 | c.1100delC | 40–49 | No | No | Caucasian | ||
| CHEK2 | p.T476M | 50–59 | No | Melanoma | No | Unknown | |
| CHEK2 | c.1100delC | 50–59 | No | Kidney | No | Caucasian | |
| CHEK2 | p.I157T | 50–59 | No | No | Caucasian | ||
| CHEK2 | p.T476M | 50–59 | No | Colon | No | Caucasian | |
| CHEK2 | p.I157T | 50–59 | No | No | Caucasian | ||
| CHEK2 | c.1100delC | 50–59 | No | No | Caucasian | ||
| CHEK2 | p.I157T | 50–59 | No | No | Ashkenazi Jewish | ||
| CHEK2 | c.1100delC | 60–69 | No | Leukemia | No | Caucasian | |
| CHEK2 | p.S428F | 60–69 | No | No | Ashkenazi Jewish | ||
| CHEK2 | c.1100delC | 60–69 | No | No | Caucasian | ||
| CHEK2 | p.Q29* | 70–79 | No | No | Caucasian | ||
| CHEK2 | p.S428F | 70–79 | No | Yes | Ashkenazi Jewish | ||
| CHEK2 | p.I157T | 70–79 | No | No | Caucasian | ||
| CHEK2 | p.I157T | 70–79 | No | No | Caucasian | ||
| CHEK2 | c.1100delC | <59 | No | Yes | Caucasian | ||
| CHEK2/PALB2 | p.I157T/c.172_175delTTGT | 70–79 | No | No | Caucasian | ||
| MRE11A | c.1867+2T>C | 70–79 | No | No | Caucasian | ||
| NBN | c.657_661delACAAA | 70–79 | No | No | Caucasian | ||
| NF1 | p.R1276* | 50–59 | No | NP | African American | ||
| NF1 | p.Q1070* | 30–39 | No | No | African American | NF1 clinical dx | |
| NF1 | c.1721+3A>G | 40–49 | No | Leukemia/pheochromocytoma/lymphoma | No | Mixed ethnicity | Son noted to have NF1 clinical dx |
| PALB2 | c.661_662delinsTA | 50–59 | No | Thyroid | No | Caucasian | |
| PALB2 | p.Y1183* | 50–59 | No | No | Ashkenazi Jewish | ||
| PALB2 | c.93dupA | 60–69 | No | No | Caucasian | ||
| RAD51D | c.270_271dupTA | 80–89 | No | No | Asian |
a NP not provided