Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

Autor: Shozo Ohsumi, Chuan Hsun Chang, Graham Walker, Kyung Hae Jung, Ming Shen Dai, Joyce A. O'Shaughnessy, Judith Balmaña, Masato Takahashi, Eisuke Fukuma, Su Jin Koh, Tapashi Dalvi, Takanori Ishida, James Bennett
Přispěvatelé: Institut Català de la Salut, [Koh SJ] Department of Hematology and Oncology, Ulsan University Hospital, Dong-gu, Korea. [Ohsumi S] Department of Breast Oncology, NHO Shikoku Cancer Center, Ehime, Japan. [Takahashi M] Department of Breast Surgery, NHO Hokkaido Cancer Center, Hokkaido, Japan. [Fukuma E] Breast Center, Kameda Medical Center, Chiba, Japan. [Jung KH] Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. [Ishida T] Department of Breast and Endocrine Surgical. [Balmaña J] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Oncology
medicine.medical_specialty
PALB2
Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES]
BRCA
Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores]
Gene mutation
medicine.disease_cause
Other subheadings::Other subheadings::/drug therapy [Other subheadings]
Breast cancer
Germline mutation
Somatic mutations
Internal medicine
medicine
Pharmacology (medical)
Radiology
Nuclear Medicine and imaging
HER2-negative metastatic breast cancer
skin and connective tissue diseases
Germline mutations
CHEK2
Genetic testing
Mutation
neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES]
medicine.diagnostic_test
business.industry
BRCA mutation
Mutació (Biologia)
General Medicine
medicine.disease
Mama - Càncer - Tractament
Homologous recombination repair
Original Article
business
Zdroj: Breast Cancer (Tokyo, Japan)
Scientia
ISSN: 1880-4233
1340-6868
Popis: Background The multinational BREAKOUT study (NCT03078036) sought to determine the prevalence of germline BRCA1/2 (gBRCA1/2) and somatic BRCA1/2 (sBRCA1/2) mutations and mutations in other homologous recombination repair (HRR) genes in women with HER2-negative metastatic breast cancer (MBC) starting first-line chemotherapy. Methods Genetic testing for gBRCA, sBRCA, and HRR gene mutations was performed in patients who started first-line chemotherapy for MBC in the last 90 days (341 patients across 14 countries) who were not selected based on risk factors for gBRCA mutations. We report data from the Asian cohort, which included patients in Japan (7 sites), South Korea (10 sites), and Taiwan (8 sites). Results Of 116 patients screened, 104 patients were enrolled in the Asian cohort. The median age was 53.0 (range 25–87) years. gBRCA1/2, gBRCA1, and gBRCA2 mutations were detected in 10.6% (11/104), 5.8% (6/104), and 4.8% (5/104) of patients, respectively; none had mutations in both gBRCA1 and gBRCA2. gBRCA1/2 mutations were detected in 10.0% (6/60) and 11.6% (5/43) of patients with hormone receptor-positive and triple-negative MBC, respectively. HRR gene mutations were tested in 48 patients without gBRCA mutations, and 5 (10.4%) had at least one HRR mutation in sBRCA, ATM, PALB2, and CHEK2. Conclusion We report for the first time the prevalence of gBRCA and HRR mutations in an Asian cohort of patients with HER2-negative MBC. Our results suggest that BRCA mutation testing is valuable to determine appropriate treatment options for patients with hormone receptor-positive or triple-negative MBC. Study registration NCT03078036.
Databáze: OpenAIRE
Externí odkaz: