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Table 1 BRCA1 and BRCA2 de novo mutations.

From: A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

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]

  1. * Designation of genetic alterations is maintained as previously cited in the original references.