Indian Breast Cancer Research Articles

Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab

BackgroundPresence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast cancer (BC), where germline BRCA1 (gBRCA 1) mutation increases the risk for BC by 59–87% and gBRCA 2 mutation increases the risk by 38–80%. In this retrospective study, we have analyzed NGS-based genetic data for samples received at our laboratory for genetic testing over a three-year period to understand the prevalence and pattern if any of BRCA1 and BRCA2 mutations in Indian breast cancer patients.ResultsBRCA gene sequencing using NGS was performed in 395 consecutive cases of BC referred for testing to our lab between 2021 and 2023. Genetic analysis of mutations BRCA 1 and BRCA 2 genes resulted in 115 (29%) positive patients. Out of 115 patients, 79 reported BRCA1 mutations, whereas 36 had BRCA2 mutations. Exon 10 (57.3%) of BRCA1 and exon 11 (52%) of BRCA2 were the most mutated exons observed in this study. The c.1961delA (26.4%) variant, followed by the c.68_69delAG (22.7%) variant in BRCA1, and the c.6373delA (20.5%) variant in BRCA2, were the most common mutations found in our study. Our data shows positive correlation of younger age group (20–45 years) with BRCA positive status (Chi-square p value = 0.001).ConclusionBRCA mutation prevalence was 29.1% in our data which is higher than Western countries. Based on our findings BRCA screening looks imperative for women with BC especially younger women (< 50 years), as family history based BRCA testing would miss out many BRCA positive candidates which could benefit from PARP therapy options.

Factors Influencing Surgical Choices in Breast Cancer Treatment in India: A Comparative Study of Breast-Conserving Surgery vs Mastectomy.

Background Breast-conserving surgery (BCS) can make breast cancer treatment less disfiguring and more aesthetically acceptable for women. However, very few patients in India chose to undergo BCS surgery despite eligibility. Therefore, this study aims to explore the factors influencing the surgical choice in the treatment of breast cancer in India. Materials and methods This prospective study was conducted at a tertiary care hospital in Central India. Women having stage I/ II breast cancer diagnosis with a tumor size <5 cm were considered. A detailed self-designed questionnaire was used. A chi-square test with a significance level (p-value <0.05) was applied. Results Out of 40 females, 80% (n = 32) chose modified radical mastectomy (MRM), whereas 20% (n = 8) opted for BCS. The primary motivations to undergo MRM included concern about cancer recurrence (30%, n = 12), desire to avoid the adverse effects of radiation therapy (25%, n = 10), and fear of radiation therapy (20%, n = 8). Surgeons play a dominant role in determining surgical options, with 80% of MRM cases following the surgeon's recommendation. A significant association was observed between surgical options, education, economic status, locality, and family history (p<0.001). Changes in decision-making regarding the type of surgery after admission to the hospital were significant (p<0.001) after counseling. Conclusions The choice between breast conservation and mastectomy is influenced by sociodemographic factors, personal views, and surgeons' recommendations. Thus, these factors must be considered in preoperative counseling to help patients make informed choices.

Somatic mutational landscape across Indian breast cancer cases by whole exome sequencing

Breast cancer (BC) has emerged as the most common malignancy among females. The genomic profile of BC is diverse in nature and complex due to heterogeneity among various geographically different ethnic groups. The primary objective of this study was to carry out a comprehensive mutational analysis of Indian BC cases by performing whole exome sequencing. The cohort included patients with a median age of 48 years. TTN, TP53, MUC16, SYNE1, and OBSCN were the frequently altered genes found in our cohort. The PIK3CA and KLC3 genes are driver genes implicated in various cellular functions and cargo transportation through microtubules, respectively. Except for CCDC168 and PIK3CA, several gene pairings were found to be significantly linked with co-occurrence. Irrespective of their hormonal receptor status, RTK/RAS was observed with frequently altered signaling pathways. Further analysis of the mutational signature revealed that SBS13, SBS6, and SBS29 were mainly observed in our cohort. This study supplements the discovery of diagnostic biomarkers and provides new therapeutic options for the improved management of BC.

Unveiling perceptions regarding post mastectomy breast reconstruction: A questionnaire-based survey of patients from central India.

Post mastectomy breast reconstruction uptake remains low in the developing countries. We examined patient perspectives about it in a cohort of Indian breast cancer patients. This prospective study was conducted at a tertiary care center in central India. All post mastectomy patients for breast cancer were interviewed via a survey questionnaire to assess their perspective regarding post mastectomy breast reconstruction. None of the 192 patients underwent immediate or delayed reconstruction by the end of 24months follow-up. Age, education level, occupation and marital status did not affect the uptake of post mastectomy breast reconstruction. The most common patient-reported reasons for not having reconstruction were the desire to avoid additional surgery and the belief that it was not important (80% for each). System related factors such as additional cost of surgery and additional length of stay were reported to be important by 55% and 65% patients respectively. Our survey of 192 post mastectomy breast cancer patients showed that none opted for post mastectomy reconstruction, suggesting significant barriers to it. Understanding and addressing these barriers are crucial to ensuring comprehensive care for these breast cancer patients.

Endurance and Evolution: Exploring Levels of Resilience Among Indian Breast Cancer Survivors

Resilience for Indian women with breast cancer involves maintaining positivity and adaptability amid the complex challenges affecting their physical, emotional, and social well-being. However, research focused on resilience amongst this population in Indian settings is limited. Therefore, the aim of the study is to explore the experience of levels, patterns, and processes of resilience in Indian women living with breast cancer. A qualitative phenomenological approach was used to study resilience. Thirty-three participants from two hospitals underwent semistructured interviews, including survivors, women in cancer therapy, and family members. Data collected via audio recordings were analyzed using reflective thematic analysis techniques. The finding describes four themes of experience of resilience in women living with breast cancer. (a) Cancer diagnosis is a life-changing experience. Breast cancer diagnosis and therapy cause existential crisis, psychological distress, and social stigma. (b) Restoring healthy perception in an adverse event. Navigating challenges and achieving a balance between internal and external factors. (c) Types of support—the pathway to resilience. Enhanced their resilience through internal support including attributes, past experiences, sociodemographic factors, and brain fitness. External support includes family, friends, religious or spiritual advisors, medical care, role models, other cancer survivors, and comfortable environments. (d) Learning and growing from the experience. Gained a better perspective on life, ultimately resulting in a new normal and finding meaning in the experience. Data show breast cancer survivors experience dynamic resilience, highlighting the need for culturally tailored interventions and supportive avenues within cancer care by healthcare providers and policymakers.

Cost-effectiveness of adjuvant abemaciclib and ribociclib in high-risk, hormone receptor–positive, early breast cancer in India.

e12516 Background: Incorporating adjuvant cyclin-dependent kinase (CDK) 4/6 inhibitors abemaciclib and ribociclib along with endocrine therapy has been shown to improve invasive disease-free survival (iDFS) for hormone receptor-positive (HR+) human epidermal receptor 2 negative (HER2-) early breast cancer (EBC). This study assesses the cost-effectiveness of this strategy, along with adjuvant aromatase inhibitors (AI) from an Indian perspective. Methods: A Markov chain model evaluated the cost-effectiveness of abemaciclib and ribociclib with letrozole compared to letrozole alone for HR+/HER2- EBC from a payer perspective in India. Key measures included lifetime quality-adjusted life years (QALY), life-years (LY), and total costs. This study explores two scenarios for effectiveness: a best-case (BC) scenario, where the benefit of CDK4/6 inhibitors in improving iDFS lasts a lifetime, and a worst-case (WC) scenario, where benefits disappear after 5 years. Probabilistic sensitivity analyses (PSA) were used to account for simulation uncertainty. Results: In the BC scenario, abemaciclib added 2.17 QALY and 4.96 LY, costing $27,756.65 more. Ribociclib in the BC scenario added 0.98 QALY and 2.58 LY, with added costs of $20,494.6. The incremental cost-effectiveness ratio for abemaciclib and ribociclib surpassed the willingness to pay threshold for in India in both scenarios (Table). At current market prices there is 0% probability of cost-effectiveness of abemaciclib and ribociclib. The cost of abemaciclib and ribociclib needs to be reduce by 78.61% and 87.19%, respectively to achieve cost-effectiveness. Conclusions: The combination of adjuvant abemaciclib or ribociclib with letrozole is not cost-effective for HR+/HER2- EBC in India in either the best or worst-case scenario.[Table: see text]

Oncofertility: The unmet need.

e23143 Background: Breast cancer incidence has been increasing across the globe and it has become most common cancer among women in Indian population also. The age trend of breast cancer incidence has shown change, with increasing number of women in the young age group( &lt; 35 years) developing breast cancer.With increasing incidence of breast cancer among young women, the question of fertility in these young women becomes a significant issue. Most of these patients are in a state of shock when they are detectedwith cancer. It becomes the utmost responsibility of the treating oncologist to discuss about fertility issueswith the patient. This study was done to determine the prevalent knowledge, practice and attitude among oncologist across various parts in India with respect to fertility issues. Methods: We performed an online survey among oncologist spread across the country. The survey included questions aimed to identify their knowledge and attitude towards fertility preservation in young breast cancer patients and what they actually practice. Also demography details of the oncologist were recorded to identity and socioeconomic or cultural variations affecting their practice behaviour. Their response was graded and analysis done using SPSS software. Results: A total of 123 oncologists had completed the survey. Among the responders majority were surgical oncologist (68.3%) followed by medical and radiation oncologist with majority doing Institution based practice. Most of the oncologists were aware of the literature available for onco fertility discussion with patient. 84.91%responders had the knowledge that this discussion should be initiated at the time of diagnosis of disease. There were no significant disparity among respondents with respect to location and site of practice in terms of knowledge 88.68% were comfortable in discussing these issues with the patients; however, majority of responders felt that very few patients came out to discuss options of onco fertility (less than 25% of patients). Most of the responders were aware of the facilities available for appropriate referrals In practice, 63.4% said they had offered information, however patient has declined to take any further step . 22.76% of responders had actually successfully referred at least one patient for fertility consultation. Conclusions: There seems to be a positive trend in terms of fertility conservation among oncologist, however study has identified a lack of willingness among young Indian breast cancer patients to seek such treatments.

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Hereditary breast cancer is characterised by the presence of a pathogenic sequence variant passed from one generation to the next. These cancers are aggressive, develop early, and account for 5 - 10% of all breast cancer cases. In South Africa (SA), the common variants that predispose to hereditary breast cancer have been well documented among white patients and form part of screening panels during targeted testing. For non-white patients, common variants are not well understood, and as such, all populations are offered the same test optimised for white patients. This carries a risk of misdiagnosis, the consequences of which include recurrence and increased mortality. To retrospectively describe genetic trends in the black African and Indian breast cancer patients from KwaZulu-Natal Province, SA. We reviewed clinical and genetic data of breast cancer and high-risk patients who consulted at Inkosi Albert Luthuli Central Hospital between 2011 and 2021. Inclusion criteria were based on clinical and demographic characteristics as defined by SA clinical guidelines. Black African patients were young (mean 37.6 years, standard deviation 11.16) and had the majority of triple-negative tumours (37.5%). Indians represented 50% of bilateral breast cancers and of high-risk individuals. We identified 30 pathogenic BRCA1/2 sequence variants, four large genomic rearrangements and 13 variants of unknown significance. Twenty black patients carried 12, 13 white patients carried 4, 25 Indian patients carried 16, and 3 coloured patients carried 3 pathogenic sequence variants. The most frequent variants were BRCA2 c.5771_5774del, p.Ile1924fs among black patients, BRCA2 c.7934del, p.Arg2645fs among white patients, and BRCA2 c.8754+1G>A among Indian patients. None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. This study highlights unique genetic trends for SA populations and the need for more inclusive targeted tests that are optimal for these populations.

Abstract PO4-10-10: NAVYA-AI enabled intervention to increase real-world guideline compliant care: Improving NGS testing in breast cancer

Abstract BACKGROUND: Navya-AI is a validated online cancer informatics solution that combines artificial intelligence based analysis of the guidelines and evidence, along with asynchronous expert review. Navya-AI releases preliminary system-generated opinions for patients whose treatment plans fit high confidence based on NCCN Guidelines and prior expert reviews. Prior research (SABCS 2014-2018 and ASCO 2021 showed: 1) 97% concordance of Navya-AI predictions with an academic medical center in India and in the US 2) 80% of patients implement treatment concordant with Navya-AI recommendations on the ground 3) Navya’s NCCN and evidence-based treatment plans reduce the patient waiting times for an expert opinion by an average by 3.5 days. Next generation sequencing (NGS) is an expensive but necessary method for identifying patients for risk reduction and therapy selection in breast cancer (BC). NGS testing can be over-used or under-used, and compliance with NCCN guidelines on patient selection is especially important in resource-constrained settings and Low Middle Income Countries (LMIC) such as India. The aim of this study is to find the physician compliance to NCCN guidelines on NGS testing in India, and how Navya-AI can identify the opportunity for improved care, and improve compliance with guidelines for optimal care. METHODS: From January 2022 to May 2023, Breast Cancer patients receiving Navya-AI treatment plan (based on guidelines and live expert-review) were analyzed. Patients who could afford NGS testing and targeted therapies, and who met the Enhanced tier of NCCN resource stratified guidelines for their care centers were identified. Their records were screened by Navya-AI to assess if they met NCCN criteria for NGS testing for risk reduction or for treatment selection (young age, positive family history, triple negative breast cancer etc.). Treating physicians were then analyzed if they had ordered NGS appropriately, or had missed an opportunity for NGS (undertreatment), or had over-ordered NGS (overtreatment).RESULTS: 521 BC patients who could afford NGS tests received a Navya-AI plan during this period. Of these, 85% were Indian patients (415/521) and were analyzed. Patients were diverse with respect to age,cancer stage, family history of cancer and histology: Age &amp;lt; 35: 6.7%, 35-50: 33%, 51-65: 43.76%, &amp;gt;65: 16.51%; early stage: 21.5%, locally advanced stage: 29.56%,metastatic stage: 47.79% and benign disease: 1%; positive family history of cancer: 37.35%, triple negative BC: 21.9%. Of 415 indian breast cancer patients who could afford testing, NGS testing was indicated in 69.64% (289/415) as per NCCN guidelines. The treating physician was compliant with NCCN guidelines in only 47.95% (199/415) of the cases: 19.2% (80/415) of the time, NGS was indicated and the treating physician ordered the same; 28.67% (119/415) of the time, NGS was not indicated, and the treating physician did not order NGS. The remaining 52% were not compliant with NCCN. Under-treatment was present in 50.36% (209/415) of cases, and was the vast majority of fallouts. Over-treatment was only present in 1.69% (7/415). In all 50.63% (209/415) cases, where NGS was not ordered by the treating oncologist, but was indicated, and affordable to the patient, Navya requested the patient to discuss the risks/benefits of NGS testing with their treating oncologist. CONCLUSION: NGS testing in BC patients has significant impact on risk-reduction, genetic counseling, choice of surgery, and treatment options for adjuvant therapy. Missed opportunities for NGS testing in more than 50% of the patients who can afford the testing and resultant therapies, points to a signficant area where compliance with guidelines and expert opinions can impact outcomes. A 'Technological Earthshot" that significantly increases adoption of guideline-based care is the first and an easy step towards 'Cancer Moonshots'. Citation Format: RA Badwe, Premal Thaker, Farzana Begum, Mayukh Acherjee, Gitika Srivastava, Naresh Ramarajan, Shona Nag, Sudeep Gupta, Seema Gulia, Jaya Ghosh, Bhawna Sirohi. NAVYA-AI enabled intervention to increase real-world guideline compliant care: Improving NGS testing in breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-10-10.

Impact of Low BMI and Nutritional Status on Quality of Life and Disease Outcome in Breast Cancer Patients: Insights From a Tertiary Cancer Center in India

This study investigates the impact of Body Mass Index (BMI) on Quality of Life (QoL) and treatment outcomes in breast cancer (BC) patients, particularly focusing on underweight individuals with compromised nutritional status. A nonrandomized prospective study comprising 121 newly diagnosed patients across various BMI categories utilized FACT-B & FACIT-Sp-12 questionnaires. Follow-ups occurred at baseline, during (3rd and 6th), and after (12th month) anthracycline-taxane chemotherapy, either sequentially or concomitantly. Patients with low BMI (<18.5 kg/m2; 53.7%) exhibited significantly poorer QoL, marked by compromised nutritional indicators (low MUAC and SFT). Repeated measures ANOVA identified significant correlations between BMI groups in functional, social, and emotional QoL aspects (p < 0.05), with no notable differences in other domains. A Chi-square (ꭓ2) test underscored a significant link between BMI and treatment response (p < 0.0001), showing higher rates of non-responders among underweight patients (p = 4.259e−14). The study advocates pretreatment consultation with a dietitian as standard care for Indian BC patients, offering complimentary nutritional support for improved QoL outcomes and treatment responses.

IJCM_244A: Awareness on breast cancer and its screening methods among the women in urban field practice area, Government Medical College, Siddipet, Telangana.

Background: Breast cancer is the most common female cancer worldwide including India, where advanced stages at diagnosis, and rising incidence and mortality rates, make it essential to understand cancer literacy in women. An understanding of the awareness and predictors of breast examination is an important first step that may guide the design of interventions aimed at raising awareness across the general population. Objective: This study aimed to evaluate the level of awareness related to breast cancer risk factors, signs, symptoms, and methods of screening among women residing in the study area. Methodology: A cross-sectional study was conducted during October 2023 - November 2023 among women residing in the urban field practice study area in Siddipet. A semi-structured questionnaire consisting of socio-demographic characteristics, questions related to awareness of breast cancer, and various screening methods was administered to 225 women in the study area. Results: The study showed an overall knowledge level of 35.00% regarding breast cancer. Participants had average knowledge about risk factors, signs, and symptoms, whereas their awareness on various screening methods was weak. Conclusion: The current study concluded that public awareness of breast cancer remains relatively low, and still needs several public awareness initiatives using mass media, such as television, Internet, and social media. Indian breast cancer patients present with advanced disease stage and have numerous poor prognostic factors, hence knowledge regarding the prevalence of risk factors was necessary. Many women, once aware, state that they would be interested in taking preventative therapy when they feel the timing is more appropriate for them. Dedicated breast health clinics, providing information about preventative therapy, and risk-reducing lifestyle changes could empower women to make personalized choices. These could be cost-effective when comparing costs of a specialist consultation with the costs of potential breast cancer therapy and psychological harm caused by breast cancer.

Abstract 6448: Prevalence and spectrum of PIK3CA mutations in Indian breast cancer patients

Abstract Introduction: Breast carcinomas are the most commonly encountered cancers in women globally. Due to advancements in cancer research the death rate in breast cancer has reduced by 41% since 1989; however, the downward trend has recently slowed emphasizing on new breast carcinomas treatment discovery. Breast carcinomas are molecularly categorized by the expression of specific hormone receptors, as well as the overexpression of human epidermal growth factor receptor 2 (HER2). Approximately 80% of breast cancers have been termed HER2-negative, but researchers now recognize that 55% of all breast cancers may actually contain low levels of HER2, levels that are still targetable by HER2-directed therapies such as Trastuzumab Deruxtecan. The phosphoinositide 3-kinase (PI3K) pathway is the most frequently altered pathway in HR+/HER2- breast carcinomas and is associated with tumor development, disease progression, and endocrine resistance. Methodology: The study entailed histological verification of breast cancer, and thence the extraction of DNA from formalin fixed, paraffin embedded (FFPE) tissue samples. A tumor content of 20% was the cut-off for performing the PIK3CA mutation analysis. The DNA was subjected to mutation analysis using a FDA-approved PIK3CA RGQ Real Time PCR based assay that has ability to detect 11 mutations in the PIK3CA gene encompasses exons 7, 9, and 20. Results: A total of 696 breast cancer patient samples (with more than 20% neoplastic tissue content) were screened for PIK3CA mutations. Of these, 275 (39.5%) (Male: Female ratio = 1:26.5; Age range = 30-80 years) harbored a mutation of the PIK3CA gene. Females were commonly affected; however, the males were also found to have PIK3CA mutation. The most common affected age group is from 41 to50 years. The positivity rate exon wise were as follows: Exon 7 (1.45%), Exon 9 (39.27%), and Exon 20 (44.27%). There was presence of co-mutations amongst different exons, which comprised of 4%. HR+/HER2- (50%) followed by HR-/Her2- (3.27%) and HR+/HER2+ (1.82%). The HER2- cases (Score 1 and Score 2) by IHC were considered as low positive cases (14%). Conclusion: This is one of the largest study to report frequency of PIK3CA mutations in the Indian population. PIK3CA mutations are commonly encountered in hormone receptor positive and HER2 Negative metastatic breast cancer and have shown promising clinical outcome leading to better prognosis. It provides insights into genotyping each breast cancer and exploits the usage of PI3K/AKT inhibitors together with other combination of drugs for effective target treatment strategies. Keywords: Breast carcinomas, PIK3CA, HR/HER2, Targeted Therapeutic Citation Format: Rahul Katara, Tina Bhardwaj, Monika Rawat, Deepak K. Sharma, Vipin Kumar, Shivani Sharma, Vaishali Dagar, Pawan Kumar, Sambit K. Mohanty. Prevalence and spectrum of PIK3CA mutations in Indian breast cancer patients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 6448.

Oncological outcomes of post neo adjuvant chemotherapy breast conservation surgery in patients with locally advanced breast cancer

Abstract Introduction: Breast cancer in India is phenotypically different with locally advanced breast cancers (LABCs) forming 30–50% of all cases. Use of neoadjuvant chemotherapy (NACT), among other things has contributed to surgeons using breast conservation surgery (BCS) in very selected patients with good results. Herein, we describe the oncological outcomes of BCS in LABC patients undergoing surgery post NACT. Patients and Methods: This is an ambispective observational cohort study conducted between January 1996 and December 2019 after approval by Institute Ethics Committee, to study the ipsilateral breast tumor recurrence (IBTR) in patients with LABC undergoing BCS post NACT. The secondary objectives were to ascertain the disease-free survival (DFS) and overall survival (OS) and factors associated with IBTR in these patients. Patients were staged according to the anatomic American Joint Committee on Cancer (AJCC) VIII Tumor Node Metastasis (TNM) classification and clinic-demographic, pathologic, treatment, and follow-up details were noted. Results: Out of 822 patients with LABC, 71 patients undergoing BCS post NACT were included. Average tumor size at presentation was 6.43 cm. The most common T stage was T3 (57.7%) and N stage was N1 (53.5%). The most common stage group was IIIB in 40.8%. Around 75% received anthracycline-based NACT with 28.2% having a complete clinical response. A pathological complete response was seen in 16 patients (22.5%). The mean follow-up duration was 6.14 years. A total of 25 patients had recurrences: five patients had IBTR (7%) and four had a local with regional recurrence. Two, 5, and 10 years OS were 94.0, 83.8, and 61.9%, respectively, and DFS were 87.8, 67.1, and 50.6%, respectively. A higher clinical T stage was associated with poor DFS (p = 0.01). The risk of IBTR was not found to significantly correlate with any of the standard prognostic factors. Conclusion: BCS post NACT in suitably selected patients of LABC is a safe and viable option without adversely affecting oncological outcomes.

Burden of female breast cancer in India: estimates of YLDs, YLLs, and DALYs at national and subnational levels based on the national cancer registry programme.

Female breast cancer (BC) is the leading cause of cancer incidence and mortality in India, andaccounted for 13.5% of new cancer cases and 10% of cancer-related deaths in 2020. This study aims to estimate and report the female BC burden in India at state level from 2012 to 2016 in terms of years of life lost, years lived with disability, and disability-adjusted life years (DALYs), and to project the burden for the year 2025. The cancer incidence and mortality data from 28 population-based cancer registrieswere analysed. The mean mortality to incidence ratio was estimated, and mortality figures were adjusted for underreporting. The burden of female BC was estimated at national and subnational levels using Census data, World Health Organisation's lifetables, disability weights, and the DisMod-II tool. A negative binomial regression is employed to project burden for 2025. The burden of BC among Indian women in 2016 was estimated to be 515.4 DALYs per 100,000 women after age standardization. The burden metrics at state level exhibited substantial heterogeneity. Notably, Tamil Nadu, Telangana, Karnataka, and Delhi had a higher burden of BC than states in the eastern and north-eastern regions. The projection for 2025 indicates to a substantial increase, reaching 5.6 million DALYs. The female BC burden in India was significantly high in 2016 and is expected to substantially increase. Undertaking a multidisciplinary, context-specific approach for its prevention and controlcan address this rising burden.

Concordance of breast cancer services in an urban tertiary care institute in India to EUSOMA guidelines: An audit of Indian breast cancer practices.

The provision of breast cancer care tends to vary substantially from one breast unit to another. To provide state-of-the-art patient-centered care to women diagnosed with breast cancer, adoption and adherence to structured treatment algorithms, protocols, and international guidelines are essential. In this review, we endeavor to audit breast cancer care at our tertiary cancer center against published EUSOMA guidelines. This was a retrospective study with an observational design. All patients who completed recommended treatment for breast diseases at our institute from January 1, 2018 to December 31, 2018 were included and evaluated. Data were retrieved from patient e-prescriptions and medical records. Analysis was performed using Microsoft Office 2010 to measure how our practices compared to EUSOMA quality indicators (QIs). Clinical assessments, imaging, and preoperative work-up of breast cancer patients met EUSOMA standards. Prognostic and predictive characterization of tumors was performed in all cases. Surgical management of invasive cancer and ductal carcinoma in situ (DCIS) was in accordance with the guidelines. Adherence to postoperative radiation and adjuvant endocrine therapy was adequate. More mastectomies were performed in patients with invasive cancers measuring <3 cm. Overtreatment was avoided in every other subgroup. Adjuvant and neoadjuvant chemotherapy and targeted adjuvant therapy were adequately utilized unlike neoadjuvant targeted therapy. Minimal attrition was noted in patient follow-up. This extensive audit has set a benchmark for future annual audits and helped highlight areas where improvement of service delivery is needed.

The Efficacy of Paxman Scalp Cooling System in Preventing Hair Loss in Breast Cancer Patients Receiving Chemotherapy in Western India - Multi-centre Retrospective Cohort Study.

Chemotherapy-induced alopecia (CIA) is the most common side effect of systemic treatment in breast cancer patients. Scalp cooling gained worldwide acceptance in preventing or mitigating CIA in patients undergoing chemotherapy. The objective of this study was to evaluate the efficacy and safety of the Paxman scalp cooling system (PSCS) in Indian breast cancer patients. This is a multi-centre, retrospective-observational study including patients registered from 1st March, 2019 to 30th April, 2021 undergoing chemotherapy for breast cancer by using PSCS. The primary end-point was the incidence of CIA after completing cycles of chemotherapy. A total of 91 female patients were enrolled in the study, with a median age of 53 years (IQR: 44-62 years). The prevention of alopecia (grade 0 and grade I) was seen in 81%, while more than 50% hair loss (grade 2) was seen in 16.48% after completion of treatment. The univariate analysis results showed that CIA was significantly higher in patients who received anthracyclines (OR: 2.69; 95% CI: 1.04-6.958; P = 0.041) and in patients with a post-infusion cooling time of >150 minutes (OR: 8.409; 95% CI: 2.295-30.787; P = 0.001). The incidence of grade 2 (>50% hair loss) alopecia was 81.3% in patients <6 weeks and was 18.8% at >6 weeks of start of chemotherapy (P < 0.0001). No adverse events were reported in 71.4% of patients, and the most common adverse event was headache (18.7%). PSCS is an effective and well-tolerated treatment modality for preventing CIA among breast cancer patients undergoing chemotherapy.

Androgen Receptor Influenced Recurrence Score Correlation in Hormone Positive and HER2 Negative Breast Cancer Indian Patients: A Comparative Approach

Breast cancer (BC) recurrence is a major concern for both patients and healthcare providers. Accurately predicting the risk of BC recurrence can help guide treatment decisions and improve patient outcomes for a disease-free survival. There are several approaches and models that have been developed to predict BC recurrence risk. These include derived clinical assays such as genetic profiling (Oncotye Dx, MammaPrint, CanAssist and others), and algorithm derived open access tools such as Magee equations (ME), CTS5 Calculator and Predict Breast cancer. All the clinical assays are well accepted, but affordability and feasibility remain the challenge due to a noteworthy price tag of USD 3000. As per The American Society of Clinical Oncology (ASCO) updates, open access tools are possible substitutes but the availability of limited information on their applicability is a concern. These tools take into consideration the histopathologic parameters and immunohistochemistry (IHC) biomarkers data for estrogen receptor/progesterone (ER/PR), human epidermal growth factor receptor 2 (HER2), and Ki67. The current study focuses on the application of these tools in a subset of 55 Indian BC patients considering the influence of the androgen receptor (AR) IHC expression profile. AR is a potent target and a close interacting neighbor protein to ER and available literature also suggests their crosstalk expression in BC clinical models. Our comparative recurrence scores (RSs) predictive data showed a statistically significant AR expression correlation with average ME scores. No significance was noted across different prediction tools. The findings are suggestive that ME predictive scores are more relevant and informative compared to other online tools and with an additional AR IHC expression analysis the recurrence prediction might prove to be beneficial and feasible to many deprived BC patients.

Does triple negative breast cancer subtype carry poorer prognosis as compared to non-triple negative breast cancer lesion - A study from a tertiary hospital

Background: The breast cancer (BC), in spite of tremendous advances has continue to remain an enigma. The major change in understanding of BC has taken place after understanding of molecular biology. Aims and Objectives: The objectives are as follows:(1) To categorize the incidence of triple negative BC (TNBC) in hospital based data. (2) To study the prognostic outcomes of TNBC. Materials and Methods: The study was an observational prospective for the period of 18th months, from February 2014 to August 2015, where total 146 cases were selected. The data regarding age, sex, tumor size, stage, grade, nodal status, Nottingham prognostic index (NPI), morphology was noted. All patients underwent immunohistochemistry (IHC) study, maintaining higher quality assurance in the same IHC laboratory. Results: Our study revealed that out of 146 patients, 71 patients are TNBC. The mean age of presentation was 54.06 years in TNBC group. About 69.0% patients presented with Grade III tumor and 74.6% patient presented with NPI ≥5.4 among TNBC. However, 56% patients presented with NPI ≥5.4 among NON TNBC. Most of the morphological variant was IDC (95.8%), 85.9% patients presented with only lymph nodes metastasis among TNBC. Conclusion: The study is tremendously significant from Indian perspective. It proofs that TNBC had the point of diagnosis, seems to be more aggressive. It suggests that Indian BC is likely to be younger at presentation as compared to its Western counterpart.

Controlling breast cancer in India - Balancing the pros and cons

Controlling breast cancer in India - Balancing the pros and cons

Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population

BackgroundBreast cancer (BC) is the most common malignancy with very high incidence and relatively high mortality in women. The PIK3CA gene plays a pivotal role in the pathogenicity of breast cancer. Despite this, the mutational status of all exons except exons 9 and 20 still remains unknown.MethodsThis study uses the whole exome sequencing (WES) based approach to identify somatic PIK3CA mutations in Indian BC cohorts. The resultant hotspot mutations were validated by droplet digital PCR (ddPCR). Further, molecular dynamics (MD) simulation was applied to elucidate the conformational and functional effects of hotspot position on PIK3CA protein.ResultsIn our cohort, PIK3CA showed a 44.4% somatic mutation rate and was among the top mutated genes. The mutations of PIK3CA were confined in Exons 5, 9, 11, 18, and 20, whereas the maximum number of mutations lies within exons 9 and 20. A total of 9 variants were found in our study, of which 2 were novel mutations observed on exons 9 (p.H554L) and 11 (p.S629P). However, H1047R was the hotspot mutation at exon 20 (20%). In tumor tissues, there was a considerable difference between copy number of wild-type and H1047R mutant was detected by ddPCR. Significant structural and conformational changes were observed during MD simulation, induced due to point mutation at H1047R/L position.ConclusionsThe current study provides a comprehensive view of novel as well as reported single nucleotide variants (SNVs) in PIK3CA gene associated with Indian breast cancer cases. The mutation status of H1047R/L could serve as a prognostic value in terms of selecting targeted therapy in BC.