Introduction. Breast conserving surgery (BCS) followed by radiation therapy (RT) has become the preferred alternative to mastectomy for patients with early stage breast cancer (BC). Randomized trials have confirmed equivalent locoregional control and overall survival for BCS and mastectomy. Extreme Oncoplasty (EO) extends the indications of BCS for patients who would otherwise require mastectomy, ensuring better aesthetic outcomes and oncological safety. Methods. BC patients with multifocal/multicentric (MF/MC) tumors, extensive DCIS, or large tumor >50mm underwent EO at our breast unit. Therapeutic reduction mammaplasty (TRM) with wise pattern preoperative markings and dual pedicle technique involving parenchymal rearrangement was used for oncoplastic reconstructions in majority of the cases followed by RT. Patient reported outcome measures (PROMs) were assessed using the validated Breast-Q questionnaire. Results. Of the 39 patients in the study, 36 had unilateral and 3 had bilateral BC. Mean age was 47.2 years. Median tumor size was 75mm. 17 (43.6%) patients received NACT; none achieved a complete clinical response. 28 (71.8%) patients were administered to adjuvant chemotherapy. 33(84.6%) patients received RT to the breast with a median dose of 50Gy in 28 fractions and a boost dose of 10Gy in 5 fractions to the tumor bed. No major complications or local recurrences were observed. Excellent Breast-Q scores were observed in patients undergoing EO after 12 months of follow-up. Conclusion. EO followed by RT results in acceptable local-regional control, low rate of complications, and high patient satisfaction. In selected patients, EO could provide a safe alternative for breast conservation surgery instead of mastectomy.

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The report evaluates the effect of coronavirus disease (COVID-19) pandemic on breast cancer treatment and management at a single-surgeon cancer care unit in one of the hotspots of COVID-19 in India. In response to the pandemic, the adjustments were made in the clinical practice to accommodate social distancing. Patient consultations were done over phone call or in-clinic visit with prior appointment to reduce the risk of exposure to COVID-19. Total number of patients that were treated at the clinic and the essential surgeries performed during the pandemic phases are summarized in the report. The methodology adopted here for care and management of the cancer patients can serve as a guiding principle for cancer care units in the country.

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Male Breast Cancer (BC) is relatively rarer, accounting for less than 1% of cancers in men. MBC is hereditary in nature and mainly attributed to BRCA1/2 germline mutations. Accordingly, National Comprehensive Cancer Network (NCCN) guidelines advise genetic counselling and testing for all cases of MBCs and their unaffected family members. In this report, we present an uncommon case of male patient primarily diagnosed with pancreatic cancer who later developed asynchronous bilateral hormone positive breast cancer. We describe the genetic screening and clinical management protocol for the proband and family members. Genetic testing with next generation sequencing by uses of a multi-gene germline mutation panel revealed a likely pathogenic BRCA2 variant (c.8754G>A, p.E2918E). Subsequently, 34 members of the extended family of the proband were tested for the BRCA2 variant by Sanger sequencing. 6 of the family members were identified as carriers of this BRCA2 variant. Of these, three presented with hereditary breast cancer and 3 were unaffected healthy carriers. In silico analysis for mechanistic insights in underlying pathogenicity revealed that the silent BRCA2 mutation is a spliceogenic variant that is likely to create an aberrant mRNA transcript via alternative splicing of BRCA2 gene. Our study demonstrates the clinical relevance of this silent BRCA2 mutation and emphasizes the need for further experimental studies to elucidate its functional role in breast cancer pathology.

Background: Breast reconstruction with an autologous lower dermal sling (ALDS) is an established one-stage procedure in patients with moderate to large ptotic breasts. However, this technique is difficult to perform in small and non/minimally ptotic breasts. We describe our experiences from a single institution about a novel Advanced Autologous Lower Dermal Sling (A-ALDS) technique for reconstruction in small breasts. Methods: We performed one stage nipple/skin sparing mastectomies in 61 patients with immediate reconstruction either by conventional immediate breast reconstruction surgery or A-ALDS technique. Results: Mean age of study patients was 46.9 years. We observed significantly better cosmetic score and lower immediate complication rate vis-a-vis skin necrosis, implant loss with the A-ALDS technique (i.e., nil versus 3 in Conventional Immediate Breast Reconstruction Surgery -IBRS). 40 patients completed 12 months follow-up. The PROMs- Patient Reported Outcomes Measures (Breast-Q) revealed good to excellent scores for satisfaction with breast, cosmetic outcome and psychosocial well-being in patients operated with both these techniques. However, sexual well-being was significantly better in the A-ALDS group. Conclusion: The A-ALDS is a novel, cost-effective and safe technique for immediate one stage implant-based reconstruction for small breasts. It provides a dermal barrier flap and hence, ensures less complications, excellent cosmetic results and patient satisfaction.

Purpose: Breast cancer is the most common cancer in Indian women with a high incidence of triple negative breast cancer (TNBC). The high TNBC prevalence (>25%) in India remains a challenge in clinical management. Association of germline BRCA1/2 mutations in TNBCs is well-established as a predisposing factor for hereditary breast cancer risk. These studies are however predominantly representative of western population. Therefore, we investigated germline profiles of multi-institutional cohort of TNBC patients in India Methods: Using a multi-gene NGS (next-generation sequencing) panel of 26 ACMG recommended genes associated with inherited cancers. Results: In our study cohort of 193 TNBC patients, we identified 57 pathogenic mutations of which BRCA1 (41/57, 71.93%) and BRCA2 (8/57, 14.03%) were most commonly mutated. Additionally, 8 pathogenic mutations were identified in non-BRCA cancer pre-disposing genes associated with the HR pathway. 10 novel mutations were identified in 3 genes namely BRCA1, BRCA2 and PALB2. Comparison of allele-frequency with the global databases like TCGA (The Cancer Genome Atlas), gnomAD and Genome Asia 100K indicated that the novel mutations were unique. Furthermore, we identified 48 variants of uncertain significance (VUS) (24.9%). Conclusions: Our study confirms the major proportion of mutations in BRCA1/2 genes in TNBCs in India. Interestingly, a higher proportion of VUS were found in the non-BRCA genes compared to BRCA1/2 emphasizing the need for functional studies of the non-BRCA genes. Additionally, large scale studies are also warranted to elucidate the landscape of germline mutations relevant to the Indian population and their probable clinical implications.