Exploring the Psychosocial Experience of Cancer Patient Who Tested Positive for BRCA 1/2 germline mutation

Hereditary mutations in BRCA1 and BRCA2 genes significantly increase the lifetime risk of breast and ovarian cancers. Genetic testing enables early identification of mutation carriers and facilitates personalized surveillance, prophylactic interventions, and informed treatment planning. While the medical benefits of BRCA testing are well established, evidence indicates that receiving a positive BRCA1/2 germline mutation result is associated with considerable psychological distress, including anxiety, uncertainty, fear of recurrence, altered self-identity, and family-related concerns. International studies report heightened anxiety and depressive symptoms particularly in the immediate post-disclosure period; however, there is limited evidence exploring these experiences within the Indian socio-cultural context.

In India, breast cancer incidence is rising, and emerging data suggest a comparatively higher prevalence of BRCA mutations among Indian breast cancer patients. Cultural expectations, family structures, stigma, reproductive concerns, and limited awareness of genetic risk may uniquely influence psychosocial responses following disclosure of a positive mutation status. Despite this, qualitative research exploring the lived psycho-social experiences of Indian cancer patients with BRCA1/2 germline mutations remains scarce.

This study aims to explore the psycho-social experiences of adult cancer patients who have tested positive for BRCA1/2 germline mutations at the Genetics Clinic of Malabar Cancer Centre (PGIOSR), Kerala. Using a qualitative cross-sectional design grounded in Interpretative Phenomenological Analysis (IPA), in-depth semi-structured interviews will be conducted among purposively selected participants who received post-test counselling within the past 2 weeks to 1 year. Data will be collected until saturation and analyzed using thematic analysis with measures to ensure intercoder reliability.

The study seeks to understand immediate, current, and anticipated future psycho-social experiences, including emotional responses, family dynamics, decision-making regarding prophylactic treatment, and perceived support needs. Findings are expected to inform culturally sensitive genetic counselling practices, psychosocial interventions, and supportive care models tailored to the Indian context.