BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil

被引：6

作者：

Mazzonetto, Patricia ^{[1
]}

Milanezi, Fernanda ^{[1
]}

D'Andrea, Mariana ^{[1
]}

Martins, Silvia ^{[1
]}

Monfredini, Priscilla M. ^{[1
]}

Silva, Juliana dos Santos ^{[1
]}

Perrone, Eduardo ^{[1
]}

Villela, Darine ^{[1
]}

Schnabel, Beatriz ^{[1
]}

Nakano, Viviane ^{[1
]}

Palmero, Edenir Inez ^{[1
]}

Braggio, Esteban ^{[1
]}

Cavalcanti, Thereza L. ^{[1
]}

Guida, Gustavo ^{[1
]}

Migliavacca, Michele P. ^{[1
]}

Scapulatempo-Neto, Cristovam ^{[1
]}

Zalcberg, Ilana ^{[1
]}

机构：

[1] Diagnost Amer SA, DASA, Av Divino Salvador, 876 3Rd Floor, BR-04078013 Sao Paulo, SP, Brazil

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2023年 / 199卷 / 01期

关键词：

BRCA1; BRCA2; Germline mutation; Genetic testing; Hereditary breast and ovarian cancer; Brazilian population; HEREDITARY BREAST; OVARIAN-CANCER; WOMEN; VARIANTS;

D O I：

10.1007/s10549-023-06892-5

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We determined the frequency and mutational spectrum of BRCA1 and BRCA2 in a series of patients at high risk for developing breast cancer from Brazil. A total of 1267 patients were referred for BRCA genetic testing, and no obligation of fulfilling criteria of mutation probability methods for molecular screening was applied. Germline deleterious mutations in BRCA1/2 (i.e., pathogenic/likely pathogenic variants) were identified in 156 out of 1267 patients (12%). We confirm recurrent mutations in BRCA1/2, but we also report three novel mutations in BRCA2, not previously reported in any public databases or other studies. Variants of unknown significance (VUS) represent only 2% in this dataset and most of them were detected in BRCA2. The overall mutation prevalence in BRCA1/2 was higher in patients diagnosed with cancer at age > 35 years old, and with family history of cancer. The present data expand our knowledge of BRCA1/2 germline mutational spectrum, and it is a valuable clinical resource for genetic counseling and cancer management programs in the country.

引用

页码：127 / 136

页数：10

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