Germline Testing for Patients with BRCA1/2 Mutations on Somatic Tumor Testing
Menée aux Etats-Unis à partir de données portant sur 164 patients (dont 109 femmes) atteints d'une tumeur avec mutation BRCA1 OU BRCA2 détectée par séquençage somatique, cette étude analyse la proportion de patients pour lesquels un test de génétique constitutionnelle a été recommandé selon les directives du "National Comprehensive Cancer Network"
Background : The National Comprehensive Cancer Network (NCCN) recommends germline testing for pathogenic BRCA1/2 mutations identified by somatic tumor sequencing (TS). The aim of this study was to explore whether patients at Stanford with somatic BRCA1/2 mutations were recommended germline testing in accordance with NCCN guidelines.
Methods : We retrospectively collected all Stanford patients with BRCA1/2 mutations found by TS. Medical records were reviewed for each patient to identify those recommended germline testing. A multivariable logistic regression model was fit associating baseline characteristics with whether or not a recommendation was made.
Results : Of 164 subjects, 51 (31.1%) had no recommendation for germline testing. Of the 97 available germline testing results, 54 (55.7%) were positive for pathogenic BRCA1/2 mutations. After adjusting for possible confounders, patients with genitourinary cancer (OR = 0.03; 95% CI = 0.00, 0.03; P = 0.003), lung cancer (OR = 0.04; 95% CI = 0.01, 0.21; P < 0.001), sarcoma (OR = 0.02; 95% CI = 0.00, 0.14; P < 0.001), skin cancer (OR = 0.01; 95% CI = 0.98, 1.03; P = 0.002), or ‘other’ diagnoses (OR = 0.01; 95% CI = 0.00, 0.16; P < 0.001) were significantly less likely to be recommended germline testing compared to patients with breast or gynecological cancers.
Discussion : Our study highlights the importance of provider education outside of the oncologic specialties typically associated with BRCA-related cancers and continued exploration of referrals to genetics for germline testing on the basis of somatic findings.
JNCI Cancer Spectrum , article en libre accès, 2018