The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer

Abstract Omshree Shetty Vikas Ostwal Introduction The present study evaluates the mutation pattern and frequency of BRAF, P...

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Main Authors: Omshree Shetty, Vaibhavi Vengurlekar, Akhil Kapoor, Vishakha Kamble, Mamta Gurav, Prabhat Bhargava, Sujay Srinivas, Anant Ramaswamy, Mukta Ramadwar, Avanish P. Saklani, Ashwin Desouza, Vikas Ostwal
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2022-07-01
Series:South Asian Journal of Cancer
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1740244
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author Omshree Shetty
Vaibhavi Vengurlekar
Akhil Kapoor
Vishakha Kamble
Mamta Gurav
Prabhat Bhargava
Sujay Srinivas
Anant Ramaswamy
Mukta Ramadwar
Avanish P. Saklani
Ashwin Desouza
Vikas Ostwal
author_facet Omshree Shetty
Vaibhavi Vengurlekar
Akhil Kapoor
Vishakha Kamble
Mamta Gurav
Prabhat Bhargava
Sujay Srinivas
Anant Ramaswamy
Mukta Ramadwar
Avanish P. Saklani
Ashwin Desouza
Vikas Ostwal
author_sort Omshree Shetty
collection DOAJ
description Abstract Omshree Shetty Vikas Ostwal Introduction The present study evaluates the mutation pattern and frequency of BRAF, PIK3CA and RAS in colorectal carcinoma observed in the tertiary cancer center in India. Materials and Methods Consecutive cases of colorectal adenocarcinoma (n = 330) registered from January 2015 to December 2019 (5-year duration) were selected for the study. Molecular analysis for BRAF.PIK3CA (exon 9 and 20) and RAS (KRAS&NRAS) was performed on representative formalin-fixed paraffin-embedded tissues by Sanger sequencing. Results were correlated with clinicopathological features. Patient overall survival (OS) was obtained using Kaplan–Meier method. Results The study cohort was in the age range of 22 to 81 years (median age: 52 years) that included 202 males and 96 females (male: female ratio 2.1:1). BRAF V600E mutation was observed in three cases (1%), while 17 cases (5.7%) had mutations in the PIK3CA gene (exon 9 or exon 20). Mutation analysis for RAS gene (KRAS&NRAS) was observed among 42 (15.4%) cases with KRAS mutation and 11 (4%) cases were positive for NRAS mutations. Among RAS, KRAS G12D was the predominant mutation. Median OS with wild-type RAS was 46.6 months (95% confidence interval [CI]: 22.4–70.8), while for RAS mutated patients, it was 25.6 months (95% CI: 16.7–34.5), hazard ratio: 1.7 (95% CI: 1.1–2.7, p = 0.025). Conclusion This study evaluated the prevalence of BRAF, PIK3CA and RAS mutations in the Indian cohort and its impact on clinical behavior. There was lower incidence of BRAF mutations in this cohort and PIK3CA mutation (single) did not impact survival of the patients.
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spelling doaj.art-9e94ae248bb84412a622a969edf67c772023-01-07T00:06:39ZengThieme Medical and Scientific Publishers Pvt. Ltd.South Asian Journal of Cancer2278-330X2278-43062022-07-01110319019410.1055/s-0041-1740244The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal CancerOmshree Shetty0Vaibhavi Vengurlekar1Akhil Kapoor2Vishakha Kamble3Mamta Gurav4Prabhat Bhargava5Sujay Srinivas6Anant Ramaswamy7Mukta Ramadwar8Avanish P. Saklani9Ashwin Desouza10Vikas Ostwal11Molecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaMolecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Medical Oncology, Mahamana Pandit Madan Mohan Malviya Cancer Center & Homi Bhabha Cancer Hospital, Tata Memorial Hospital, Varanasi, Uttar Pradesh, IndiaMolecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaMolecular Pathology Laboratory, Department of Pathology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Medical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Medical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Medical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Pathology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Surgical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Surgical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaDepartment of Medical Oncology, Tata Memorial Hospital, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, Maharashtra, IndiaAbstract Omshree Shetty Vikas Ostwal Introduction The present study evaluates the mutation pattern and frequency of BRAF, PIK3CA and RAS in colorectal carcinoma observed in the tertiary cancer center in India. Materials and Methods Consecutive cases of colorectal adenocarcinoma (n = 330) registered from January 2015 to December 2019 (5-year duration) were selected for the study. Molecular analysis for BRAF.PIK3CA (exon 9 and 20) and RAS (KRAS&NRAS) was performed on representative formalin-fixed paraffin-embedded tissues by Sanger sequencing. Results were correlated with clinicopathological features. Patient overall survival (OS) was obtained using Kaplan–Meier method. Results The study cohort was in the age range of 22 to 81 years (median age: 52 years) that included 202 males and 96 females (male: female ratio 2.1:1). BRAF V600E mutation was observed in three cases (1%), while 17 cases (5.7%) had mutations in the PIK3CA gene (exon 9 or exon 20). Mutation analysis for RAS gene (KRAS&NRAS) was observed among 42 (15.4%) cases with KRAS mutation and 11 (4%) cases were positive for NRAS mutations. Among RAS, KRAS G12D was the predominant mutation. Median OS with wild-type RAS was 46.6 months (95% confidence interval [CI]: 22.4–70.8), while for RAS mutated patients, it was 25.6 months (95% CI: 16.7–34.5), hazard ratio: 1.7 (95% CI: 1.1–2.7, p = 0.025). Conclusion This study evaluated the prevalence of BRAF, PIK3CA and RAS mutations in the Indian cohort and its impact on clinical behavior. There was lower incidence of BRAF mutations in this cohort and PIK3CA mutation (single) did not impact survival of the patients.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1740244colorectal cancer (crc)indiabraf pik3ca ras
spellingShingle Omshree Shetty
Vaibhavi Vengurlekar
Akhil Kapoor
Vishakha Kamble
Mamta Gurav
Prabhat Bhargava
Sujay Srinivas
Anant Ramaswamy
Mukta Ramadwar
Avanish P. Saklani
Ashwin Desouza
Vikas Ostwal
The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
South Asian Journal of Cancer
colorectal cancer (crc)
india
braf
pik3ca
ras
title The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
title_full The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
title_fullStr The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
title_full_unstemmed The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
title_short The Prevalence of BRAF, PIK3CA, and RAS Mutations in Indian Patients with Colorectal Cancer
title_sort prevalence of braf pik3ca and ras mutations in indian patients with colorectal cancer
topic colorectal cancer (crc)
india
braf
pik3ca
ras
url http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1740244
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