Gene affected by de novo mutation | Designation* | Clinical Characteristics | Cancer family history | Reference |
---|---|---|---|---|
BRCA1 | c.3769_3770delGA | Age < 40 years High-grade BC with axillary nodal metastases. | Father with prostate carcinoma at 50s. Inherited BRCA2 mutation c.5946delT | [38] |
BRCA1 | c.5332+1G > A | Bilateral IDC BC at 38 (ER+, grade II) and 43 years-old (ER and PR+, grade III). | Maternal aunt with BC prior to her death at 54 years-old. | [42] |
BRCA2 | c.3034del4 | Multifocal BC with axillary node metastases at 39 years of age. | A cousin on the paternal side with BC diagnosed at the age of 54. | [40] |
BRCA2 | c.7260insA | At age 35 with bilateral IDC. | Father with colon cancer at the age of 57 and died of metastatic disease at 62 | [39] |
BRCA2 | c.8754+1 G > A | IDC BC at the age of 40 (ER and PR +, grade II). | Mother with BC at 59 years-old. | [43] |
BRCA2 | c.5301insA | At the age of 35 grade III IDC BC (ER+, PR- and HER2-). | Paternal grandmother BC at age 42 and paternal first cousin with prostate cancer at age 40. Maternal family history with diagnosis of OC in great-grandmother and great-great-grandmother, and a great-aunt with BC in her 70s. | [41] |
BRCA2 | c.51dupA | Diagnosed at the ages of 27 (ER and PR -) and 37 (ER and PR +, HER2 -) with bilateral IDC BC. | No other breast or ovarian cancers were present. | [37] |