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Demographics and Clinical Decision Making in Patients with Germline Moderate Penetrance Non-BRCA Mutations in Breast Cancer Related Genes.
Ntowe, Koumani W; Thomas, Samantha M; Dalton, Juliet C; Olunuga, Ebunoluwa; Wang, Ton; Chiba, Akiko; Plichta, Jennifer K.
Afiliação
  • Ntowe KW; Department of Surgery, Duke University Medical Center, Durham, NC, USA.
  • Thomas SM; Duke Cancer Institute, Duke University, Durham, NC, USA.
  • Dalton JC; Biostatistics and Bioinformatics, Duke University, Durham, NC, USA.
  • Olunuga E; Department of Surgery, Duke University Medical Center, Durham, NC, USA.
  • Wang T; Department of Surgery, Duke University Medical Center, Durham, NC, USA.
  • Chiba A; Department of Surgery, Duke University Medical Center, Durham, NC, USA.
  • Plichta JK; Duke Cancer Institute, Duke University, Durham, NC, USA.
Ann Surg Oncol ; 2024 Jul 08.
Article em En | MEDLINE | ID: mdl-38976158
ABSTRACT

BACKGROUND:

Management of pathogenic variants in high penetrance genes related to breast cancer (BC), such as BRCA1 and BRCA2, are well established. However, moderate penetrance mutations are understudied. We aim to compare risk reduction decision-making patterns in patients with a moderate penetrance BC-related genetic mutations, without a prior BC diagnosis. PATIENTS AND

METHODS:

Female patients aged ≥ 18 years who tested positive for a BRCA1/2, high penetrance, or moderate penetrance mutation related to BC between 1996 and 2023 without a concurrent or prior BC diagnosis were retrospectively identified from a single academic center's database. Groups were stratified by mutation type BRCA1/2 mutations (BRCA1, BRCA2), high penetrance mutations (HPM; CDH1, PALB2, PTEN, STK11, TP53), or moderate penetrance mutations (MPM; ATM, BARD1, CHEK2, NF1, RAD51C, RAD51D). Demographics and clinical outcomes were compared.

RESULTS:

A total of 528 patients met the inclusion criteria, with 66% (n = 350) having a BRCA1/2 mutation, 8% (n = 44) having HPM, and 25% (n = 134) having MPM; the median follow-up was 56.0 months. In our cohort, 20.9% of patients with BRCA mutations, 9.1% with HPM, and 7.5% with MPM chose to undergo risk-reducing mastectomies (RRM). Within the moderate penetrance cohort, patients who chose to undergo RRM were younger at the time of genetic testing (39.4 vs. 47.5 years, p = 0.03) and had a higher number of family members with BC (2 vs. 1, p = 0.05).

CONCLUSIONS:

Our findings provide insights into the demographic characteristics and family history of patients with moderate penetrance mutations and those who pursue risk-reducing surgery.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article