TY - JOUR
T1 - BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil
AU - Mazzonetto, Patricia
AU - Milanezi, Fernanda
AU - D’Andrea, Mariana
AU - Martins, Silvia
AU - Monfredini, Priscilla M.
AU - dos Santos Silva, Juliana
AU - Perrone, Eduardo
AU - Villela, Darine
AU - Schnabel, Beatriz
AU - Nakano, Viviane
AU - Palmero, Edenir Inez
AU - Braggio, Esteban
AU - Cavalcanti, Thereza L.
AU - Guida, Gustavo
AU - Migliavacca, Michele P.
AU - Scapulatempo-Neto, Cristovam
AU - Zalcberg, Ilana
N1 - Publisher Copyright:
© 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2023/5
Y1 - 2023/5
N2 - 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.
AB - 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.
KW - BRCA1
KW - BRCA2
KW - Brazilian population
KW - Genetic testing
KW - Germline mutation
KW - Hereditary breast and ovarian cancer
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U2 - 10.1007/s10549-023-06892-5
DO - 10.1007/s10549-023-06892-5
M3 - Article
C2 - 36881271
AN - SCOPUS:85149402965
SN - 0167-6806
VL - 199
SP - 127
EP - 136
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
IS - 1
ER -