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Purpose In a developing country like India, genomic data sets for even the most clinically relevant genes like BRCA1 and BRCA2 is rather scarce. Also, there is a need to identify and screen population specific BRCA hotspots to pave a way for affordable genetic testing strategies in clinical practice. Method This is an ambispective study to evaluate an NGS based approach to identify pathogenic variants in BRCA1 and BRCA2 genes among 430 patients with Breast and Ovarian cancers. The target enrichment was carried out using the in-house designed Multiplex-PCR followed by targeted Next-generation sequencing (NGS) for BRCA1 and BRCA2. Also, allele-specific PCR based genotyping of del185AG was carried out in additional 120 patients. Results In this study, we have identified 100 BRCA1 and BRCA2 variants and based on ACMG 2015 guidelines, these variants were classified as 46 pathogenic, 9 likely pathogenic, and 45 VUS. Of these variants, three were novel, two with likely pathogenic, and one variant of uncertain significance (VUS). The 185delAG was identified as a recurrent mutation in the Southern Indian population accounting for 25.45% of the pathogenic variants. In addition, a family history of cancers of the breast, ovary, pancreas, or prostate (BOPP) was found to be associated with a higher risk of identifying a deleterious BRCA1/2 variant [OR 3.2 (95%CI 1.84–5.77) p ≤ 0.001]. Conclusions These results suggest that Multiplex PCR-NGS is a sensitive and specific strategy for BRCA testing. However, ASPCR-based genotyping of BRCA1(NM_007300.4): c.68_69del followed by targeted NGS would be a cost-effective approach in south Indian patients.

Objectives Sexual dysfunction (SD) is a common side effect of almost all prostate cancer (PCa) treatments. This study examined how men’s experience of sexual side effects and accessing information and support varied by treatment pathway. Methods An anonymous online survey was distributed via email, social media and peer-support groups in collaboration with the charity Prostate Cancer UK. Results were analysed by treatment pathway: Radical Prostatectomy (RP), Radiotherapy (RT), Androgen Deprivation Therapy (ADT) ± second line therapy (Androgen Receptor Targeted Agent, Chemotherapy, Radioisotope), and No Treatment (Active Surveillance, Watchful Waiting, Awaiting Treatment). Chi-square testing was used for categorical variable analysis. Results A total of 654 adult participants met the inclusion criteria and were included in the analysis. Sexual activity was ‘fairly/very important’ to the majority of men irrespective of treatment group. Sexual dysfunction was wide-ranging and common across almost all pathways, with men on combinations of treatment reporting problems most frequently [Fig 1]. Participants whose disease management involved RP were significantly more likely to have had discussions about SD with a healthcare professional (HCP) than those managed with RT and/or ADT alone (80.1% vs 43.3%, p<.001). Those discussions were also significantly more likely to have led to a referral for specialist sexual support (49.1% vs 26.6%, p<.001). However, there was dissatisfaction across groups, with a only minority of participants reporting they were ‘told everything I needed to know’ about SD and rating their care as ‘adequate’ [Fig 1]. Conclusions This study investigated a wide range of sexual problems across PCa treatment pathways. Findings suggest physical and psychological sexual side effects are common and distressing in all treatment groups. Men place high importance on sexual activity, but only a minority are satisfied with the information and support they receive. Unmet needs are greatest among men whose disease is managed in the oncological setting with RT and ADT. Conflicts of Interest Astellas Pharma Resaerch Grant UK-72-RG-41.