Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

Malhotra, Hemant; Kowtal, Pradnya; Mehra, Nikita; Pramank, Raja; Sarin, Rajiv; Rajkumar, Thangarajan; Gupta, Sudeep; Bapna, Ajay; Bhattacharyya, Gouri Shankar; Gupta, Sahil; Maheshwari, Amita; Mannan, Ashraf U.; Kundur, Ravindra Reddy; Sekhon, Rupinder; Singhal, Manish; Smruti, B K; Sp, Somashekhar; Suryavanshi, Moushumi; Verma, Amit Kumar

doi:10.1200/jgo.19.00381

Cited by 15 publications

(19 citation statements)

References 88 publications

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“…Mutation in BRCA1, BRCA2, and PALB2 is associated with the development of breast cancer in 1 out of 10 cases. Mutation in BRCA1 and BRCA2 is distributed in all population of the world; BRCA1 and BRCA2 are responsible of 45% hereditary breast cancer cases [ 157 – 160 ]. It is mandatory to look for BRCA1 and BRCA2 mutations and understand the specific pathological features of BRCA-associated tumors and specific molecular cascade involved in it [ 161 , 162 ].…”

Section: Different Available Approaches To Control Breast Cancermentioning

confidence: 99%

[Retracted] Global Increase in Breast Cancer Incidence: Risk Factors and Preventive Measures

Kashyap

Pal

Sharma

et al. 2022

BioMed Research International

329

125

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Breast cancer is a global cause for concern owing to its high incidence around the world. The alarming increase in breast cancer cases emphasizes the management of disease at multiple levels. The management should start from the beginning that includes stringent cancer screening or cancer registry to effective diagnostic and treatment strategies. Breast cancer is highly heterogeneous at morphology as well as molecular levels and needs different therapeutic regimens based on the molecular subtype. Breast cancer patients with respective subtype have different clinical outcome prognoses. Breast cancer heterogeneity emphasizes the advanced molecular testing that will help on-time diagnosis and improved survival. Emerging fields such as liquid biopsy and artificial intelligence would help to under the complexity of breast cancer disease and decide the therapeutic regimen that helps in breast cancer management. In this review, we have discussed various risk factors and advanced technology available for breast cancer diagnosis to combat the worst breast cancer status and areas that need to be focused for the better management of breast cancer.

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Section: Different Available Approaches To Control Breast Cancermentioning

confidence: 99%

[Retracted] Global Increase in Breast Cancer Incidence: Risk Factors and Preventive Measures

Kashyap

Pal

Sharma

et al. 2022

BioMed Research International

329

125

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“… 34 In this context, the results of this study reinforce recently published Indian guidelines, which recommend genetic testing in all patients with ovarian cancer and discuss the potential therapeutic and familial impact and likely challenges in the Indian context. 35 …”

Section: Discussionmentioning

confidence: 99%

Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study

Gupta

Rajappa

Advani

et al. 2021

JCO Global Oncology

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PURPOSE There are deficient data on prevalence of germline mutations in breast cancer susceptibility genes 1 and 2 ( BRCA1/ BRCA2) in Indian patients with ovarian cancer who are not selected by clinical features. METHODS This prospective, cross-sectional, noninterventional study in nine Indian centers included patients with newly diagnosed or relapsed epithelial ovarian, primary peritoneal, or fallopian tube cancer. The primary objective was to assess the prevalence of BRCA1/ BRCA2 mutations, and the secondary objective was to correlate BRCA1/ BRCA2 status with clinicopathologic characteristics. Mutation testing was performed by a standard next-generation sequencing assay. RESULTS Between March 2018 and December 2018, 239 patients with a median age of 53.0 (range, 23.0-86.0 years) years were included, of whom 203 (84.9%) had newly diagnosed disease, 36 (15.1%) had family history of ovarian or breast cancer, and 159 (66.5%) had serous subtype of epithelial ovarian cancer. Germline pathogenic or likely pathogenic mutations in BRCA1 and BRCA2 were detected in 37 (15.5%; 95% CI, 11.1 to 20.7) and 14 (5.9%; 95% CI, 3.2 to 9.6) patients, respectively, whereas variants of uncertain significance in these genes were seen in four (1.7%; 95% CI, 0.5 to 4.2) and six (2.5%; 95% CI, 0.9 to 5.4) patients, respectively. The prevalence of pathogenic or likely pathogenic BRCA mutations in patients with serous versus nonserous tumors, with versus without relevant family history, and ≤ 50 years versus > 50 years, were 40 of 159 (25.2%; 95% CI, 18.6 to 32.6) versus 11 of 80 (13.8%; 95% CI, 7.1 to 23.3; P = .0636), 20 of 36 (55.6%; 95% CI, 38.1 to 72.1) versus 41 of 203 (20.2%; 95% CI, 14.9 to 26.4; P < .0001), and 20 of 90 (22.2%; 95% CI, 14.1 to 32.2) versus 31 of 149 (20.8%; 95% CI, 14.6 to 28.2; P = .7956), respectively. CONCLUSION There is a high prevalence of pathogenic or likely pathogenic germline BRCA mutations in Indian patients with ovarian cancer.

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“…Identification of deleterious mutations in the cancer predisposing genes may alter the clinical management and help implement aggressive risk reduction strategies for recurrence(Buys et al, 2017; Malhotra et al, 2020). The identification of pathogenic variants in multiple genes might also aid in the formulation of future guidelines specific to the Indian population.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to identifying high penetrance and low penetrance genes, these studies also demonstrate the frequent occurrence of specific mutations in populations with common ancestry. These founder mutations have been identified in BRCA genes for Icelandic, Ashkenazi Jews and French-Canadian populations (Kowalewski et al, 2018;Malhotra et al, 2020). However, no such founder mutations have been identified for the Indian population.…”

Section: Discussionmentioning

confidence: 99%

Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer

Bapat

Gahlaut

Mishra

et al. 2022

Preprint

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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.

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Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

Cited by 15 publications

References 88 publications

[Retracted] Global Increase in Breast Cancer Incidence: Risk Factors and Preventive Measures

[Retracted] Global Increase in Breast Cancer Incidence: Risk Factors and Preventive Measures

Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study

Assessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer

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