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Germline genetic mutations in high-risk patients for breast cancer: profile of a group in the city of Florianopolis, Santa Catarina
Ronsoni, Nadhine Feltrin; Heinzen, Rebeca Neves; Ávila, Gustavo Alberto Ozol de; Ferrari, Marina Avila; Phillipi, Paula Cechella; Freitas, Adriana Magalhaes de Oliveira; Meyer, Maria Eduarda.
Affiliation
  • Ronsoni, Nadhine Feltrin; Universidade do Extremo Sul Catarinense. Criciúma. BR
  • Heinzen, Rebeca Neves; Universidade de São Paulo, Hospital Sírio Libanês. São Paulo. BR
  • Ávila, Gustavo Alberto Ozol de; Universidade do Sul de Santa Catarina. Palhoça. BR
  • Ferrari, Marina Avila; Universidade do Sul de Santa Catarina. Palhoça. BR
  • Phillipi, Paula Cechella; Universidade do Sul de Santa Catarina, Hospital regional Homero de Miranda Gomes. São José. BR
  • Freitas, Adriana Magalhaes de Oliveira; Universidade Estadual de Campinas, Brazilian Society of Mastology. Campinas. BR
  • Meyer, Maria Eduarda; Universidade Regional de Blumenau. Blumenau. BR
Mastology (Online) ; 32: 1-7, 2022.
Article in En | LILACS-Express | LILACS | ID: biblio-1402686
Responsible library: BR2499.9
ABSTRACT
To analyze the occurrence of genetic mutations in a sample of patients with high risk of breast cancer in Florianopolis/ SC from December 1st, 2021, to January 31, 2022.

Methods:

An observational, descriptive and retrospective study carried out through data collection of a preexisting database. A total of 194 tests were analyzed. Of these, 192 met the inclusion criteria and composed the final sample of 205 genes. Data were classified and reported the frequency and percentage of the variables gene and presence or absence of mutation.

Results:

Mean age of the analyzed patients was 52.3 years, and most underwent the test due to personal history of breast cancer (80%). Clinical significance classification showed that, of the 192 gene panels, 62% were variants of uncertain significance; 14% were pathogenic; and 24%, negative. Of the 205 mutations, the most prevalent genes were ATM 8.7%, MUTYH 5.8%, POLE 5.8%, BRCA2 4.8%, MSH6 4.8% and RECQL4 4.8%. Of the pathogenic tests regarding genetic predisposition to cancer (n=38/14.1%), the most common mutations were MUTYH (23%) and BRCA1 (15%), with mean age of 52 years (±14.3). In variants of uncertain significance panels (n=168/62%) the frequency rates were ATM (7.7%), POLE (7.1%) and MSH6 (5.9%) genes. The high penetrance genes were present in 18% of the genetic predisposition to cancer panels. Of those with positive family history (n=40), 19% of the genes were pathogenic, 53% were variants of uncertain significance; and 26% were negative. Furthermore, in patients with pathogenic mutations and positive family history (n=11), the most common mutations were in BRCA1 (27%) and BRCA2 (27%). Of the patients who tested due to personal history (n=152), 64% of the genes presented variants of uncertain significance, 13% were pathogenic and 22% were negative.
Key words

Full text: 1 Collection: 01-internacional Database: LILACS Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Language: En Journal: Mastology (Online) Journal subject: Neoplasias da Mama Year: 2022 Document type: Article Affiliation country: Brazil Country of publication: Brazil

Full text: 1 Collection: 01-internacional Database: LILACS Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Language: En Journal: Mastology (Online) Journal subject: Neoplasias da Mama Year: 2022 Document type: Article Affiliation country: Brazil Country of publication: Brazil