ABSTRACT
BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing and counseling are not as common as in the West. To reduce the barrier of testing, a multiplex SNaPshot genotyping panel that targeted 25 Chinese BRCA1/2 mutation hotspots was developed, and its feasibility was evaluated in a local cohort of 441 breast and 155 ovarian cancer patients. For those who tested negative, they were then subjected to full-gene testing with next-generation sequencing (NGS). BRCA mutation prevalence in this cohort was 8.05% and the yield of the recurrent panel was 3.52%, identifying over 40% of the mutation carriers. Moreover, from 79 Chinese breast cancer cases recruited overseas, 2 recurrent mutations and one novel BRCA2 mutation were detected by the panel and NGS respectively. The developed genotyping panel showed to be an easy-to-perform and more affordable testing tool that can provide important contributions to improve the healthcare of Chinese women with cancer as well as family members that harbor high risk mutations for HBOC.
ABSTRACT
BACKGROUND: Treatment summary and survivorship care plan studies are at the forefront of research priorities with precedence for ethnic minority inclusion. This preliminary study joined the advocacy, scientific, and medical communities to inform the development and evaluation of the Treatment Summary and Survivorship Care Plan (TSSCP-S) template targeted for Latino breast cancer patients (LCA). METHODS: The development of the TSSCP-S began as modifications to the American Society of Cancer Oncology (ASCO) (TSSCP-ASCO) template via a transcreation process informed by 12 LCA survivors/advocates, and evaluated by 10 survivor/advocates and health professionals. The TSSCP-S template development was guided by the Shared Care, Psychooncology Models, and Contextual Model of Health Related Quality of Life. RESULTS: The bilingual TSSCP-S was independently evaluated by bilingual, survivor/advocates, and health professionals (n = 10). Preliminary analyses indicate that the TSSCP-S template was rated more favorably than the TSSCP-ASCO on the following domains: content (p = 0.02), clarity (p = 0.02), utility (p = 0.04), cultural and linguistic responsiveness (p = 0.03), and socioecological responsiveness (p = 0.01). Evaluators noted that the TSSCP-S template was more patient-centered, and endorsed the acceptability as well as the potential utility and applicability of the bilingual TSSCP-S template to appropriately guide surveillance and follow-up care. CONCLUSIONS: Our findings indicate that the TSSCP-S achieved clinical, cultural, and linguistic responsiveness relevant to Latinos. Patient-centered TSSCP that are presented in a bilingual format are necessary to achieve the intended goals of TSSCP including appropriate patient information, education, and resources pertaining to their treatment, potential side effects, and recommended surveillance and follow-up care for English language limited patients. Additionally, our culturally responsive TSSCP-S development framework offers a model for TSSCP template development for targeted and underserved populations, including ethnic and linguistic minority cancer survivors. IMPLICATIONS FOR CANCER SURVIVORS: These data support the development and evaluation of a TSSCP targeted to an underserved, high-risk population, LCAs. Identifying methods to improve surveillance and follow-up guideline adherence may lead to improved clinical cancer outcomes and quality of life.
