e22524 Background: Genetic testing has been applied increasingly widely in oncology, as detection of hereditary cancer syndromes can guide prophylactic surgery, intensive surveillance and family member testing. We hypothesized that the profile of mutation prevalence may be different from the general knowledge in patients with immigrant background. Methods: Cancer patients who have been treated in Maimonides hospital and have had a genetic test performed between 1/1/2010 until 1/31/2022 were eligible. Patients were randomly approached for consenting for the study. The results from the first 122 patients enrolled in this study were analyzed. Results: Among 122 patients, there were 86 breast, 22 GYN, 8 GI, 5 GU and 1 lung cancer. The ethnicities were African American (n = 38), Asian (n = 36), Caucasian (n = 32), Hispanic (n = 10) and mixed races (n = 6). Six patients had 2 primary cancers and 2 patients had 3 primary cancers. 25 patients (20.49 %) had germline mutations. A complete list of cancer type, mutation type, age of onset and cancer characteristics is shown in the table below. All of the 13 mutation positive breast cancer patients met the NCCN criteria for genetic testing, including 7 for age < 50 and 6 with family history of breast cancer. Among the 2 patients with NF1 mutation, one had no skin change while the other had neurofibromatosis; both had family history, with pancreatic or breast cancer respectively. The patient with APC mutation had family history of numerous cancers including gastric, but no colon cancer. 48% patients had the onset of disease at older than 50 years old. Conclusions: In this multi-ethnicity cohort, 20.49% mutations were detected in patients who met the genetic testing criteria. A higher prevalence of BRCA 2 were found in both breast and ovarian cancer patients, and rare mutations of NF1, APC, FH and ATM were also detected. A large percentage had onset at an older age. More studies should be done in communities enriched with immigrants to gather further knowledge of unusual prevalence of genetic mutations, and an extensive panel for gene testing should be offered.[Table: see text]
e24128 Background: Genetic testing detects hereditary cancer syndromes and guides prophylactic surgery, intensive surveillance and family member testing. Despite its surge in use, research studies exploring the cancer patient’s perception and emotional reactions of their genetic test result is sparing. We hypothesized that the patient’s perception may be influenced by their ethnicity, educational level and English speaking status. Methods: Cancer patients who had genetic testing performed in the last 10 years were consented to take a questionnaire survey. The correctness of understanding their genetic test results were studied and compared among various ethnic groups, education levels and first spoken languages. We also evaluated the patient’s emotional reaction towards the result. Results: The data for the first 100 patients were analyzed. The primary tumor sites were breast (n = 71), gynecological (n = 16), gastrointestinal (n = 7), genitourinary (n = 5) and lung (n = 1). Eighteen patients were mutation carriers. The correctness in understanding mutation status was 65.7%, 54.2%, 70% and 45.5% in African American, Asian, Caucasian and Hispanics respectively. The correctness was 60%, 64.5% and 66.67% in patients with education levels of grade school or below, high school, or college or higher respectively. None of the 3 patients who carried a mutation with education level of grade school or lower understood the implications of their mutations. Details of correctness in understanding in patients with and without mutation are provided in the table. The correctness was 61.72% and 63.15% in English speaking vs non-English speaking patients. Patients could recall pre-test counseling in 76% and posttest counseling in 67% of cases. Among mutation carriers, 22.2% had anxiety or stressful feelings about the test result, while in patients with no mutation, 20.7% had anxiety/depression. 67% patients carried out prophylactic surgery as recommended. Conclusions: The correctness of understanding their genetic test results across all ethnic groups, education levels and language was below 70%. Patients with education level below grade school encountered in the immigrant population need more attention. Improvement in communication and patient education is imperative in order to carry out recommendations. Structured emotional support to the patient should always complement genetic counseling and testing.[Table: see text]
e12547 Background: Genetic testing has been applied widely in oncology and guidelines and criteria have been established for selection of testing. We aimed to study the variants of genetic mutations detected in a cohort of breast cancer patients of multiple ethnicity background, and its pathoclinical correlations. Methods: Breast cancer patients who have had a genetic test performed between 1/1/2010 until 1/31/2022 were eligible. Results: Among 767 patients tested, 77 patients were found to have germline mutations, including BRCA 1 (n = 20), BRCA 2 (n = 19), PALB2 (n = 12), CHEK 2 (n = 6), ATM (n = 4), RAD50 (n = 4), and others (n = 12). The race and ethnic groups were White/Caucasian (n = 23), African American (AA) (n = 25), Asian (n = 13), Jewish (n = 12) and Hispanic (n = 4). Genetic testing were performed when the tumors were diagnosed of stage 1-2 in 77.8% in white + jewish, 100% in Asian, 75% in Hispanic patients, but only 64% in AA patients. Non metastatic tumors with BRCA 1/2 mutation had a distribution in stage 1, 2, and 3 to be 30%, 37.5%, 27.5% respectively, while that for PALB2 was 0%, 83.3%, 8.3% respectively. BRCA 1 cancers showed 61.9% triple negative, 23.8% ER+/Her-2 neg, 14.3% ER-/Her-2 + distribution, and BRCA 2 cancers showed 31.6% triple negative, 63.2% ER+/Her-2 neg, and 5.3% ER+/Her-2 + distribution. PALB2 cancers showed 16.7% triple negative, 58.3% ER+/Her-2 neg, and 25% ER+/Her-2 + distribution. 4 (5.2%) patients were male, who had BRCA 2 (n = 2), RAD 50 (n = 1), and APC (n = 1), 3 were ER+/Her-2 neg, and 1 was ER+/Her-2 +. If NCCN criteria is used for selection for genetic testing, 8 (10.4%) patients will not meet the test criteria. Conclusions: Performance of genetic testing was done in more than 77% of the patient in early stage 1-2 breast cancer, which is significantly lower in AA subgroup (64%). BRCA 1/2 cancers presented in all early stages, while PALB2 cancers were predominantly stage 2 at diagnosis. Triple negative cancers were most common in BRCA 1, but can present in BRCA 2 and PALB2 mutations . RAD 50 and APC mutations can cause male breast cancer. Applying NCCN guideline, 10% patients will be missed for testing.
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