Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study
PURPOSEThere 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.METHODSThis prospective, cross-sectional, noninterventional study in nine Indian centers in...
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| Format: | Article |
| Language: | English |
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American Society of Clinical Oncology
2021-12-01
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| Series: | JCO Global Oncology |
| Online Access: | https://ascopubs.org/doi/10.1200/GO.21.00051 |
| _version_ | 1818356627844104192 |
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| author | Sudeep Gupta Senthil Rajappa Suresh Advani Amit Agarwal Shyam Aggarwal Chanchal Goswami Satya Dattatreya Palanki Devavrat Arya Shekhar Patil Rohit Kodagali |
| author_facet | Sudeep Gupta Senthil Rajappa Suresh Advani Amit Agarwal Shyam Aggarwal Chanchal Goswami Satya Dattatreya Palanki Devavrat Arya Shekhar Patil Rohit Kodagali |
| author_sort | Sudeep Gupta |
| collection | DOAJ |
| description | PURPOSEThere 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.METHODSThis 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.RESULTSBetween 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.CONCLUSIONThere is a high prevalence of pathogenic or likely pathogenic germline BRCA mutations in Indian patients with ovarian cancer. |
| first_indexed | 2024-12-13T20:00:14Z |
| format | Article |
| id | doaj.art-1b18c6ba657e45b5998ec5aebcecd8e6 |
| institution | Directory Open Access Journal |
| issn | 2687-8941 |
| language | English |
| last_indexed | 2024-12-13T20:00:14Z |
| publishDate | 2021-12-01 |
| publisher | American Society of Clinical Oncology |
| record_format | Article |
| series | JCO Global Oncology |
| spelling | doaj.art-1b18c6ba657e45b5998ec5aebcecd8e62022-12-21T23:33:13ZengAmerican Society of Clinical OncologyJCO Global Oncology2687-89412021-12-01784986110.1200/GO.21.00051Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional StudySudeep Gupta0Senthil Rajappa1Suresh Advani2Amit Agarwal3Shyam Aggarwal4Chanchal Goswami5Satya Dattatreya Palanki6Devavrat Arya7Shekhar Patil8Rohit Kodagali9Medical Oncology, Tata Memorial Centre, Mumbai, IndiaMedical Oncology, Basavatkaram Indo American Cancer Hospital, Hyderabad, IndiaMedical Oncology, Sushrut Hospital, Mumbai, IndiaMedical Oncology, BLK Superspeciality Hospital, New Delhi, IndiaMedical Oncology, Sir Gangaram Hospital, New Delhi, IndiaMedical Oncology, Medica Superspeciality Hospital, Kolkata, IndiaMedical Oncology, Omega Hospitals, Hyderabad, IndiaMedical Oncology, Max Institute of Cancer Care, Saket, New Delhi, IndiaMedical Oncology, HCG Cancer Hospital, Bengaluru, IndiaMedical Affairs, AstraZeneca Pharma India Ltd, Bangalore, IndiaPURPOSEThere 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.METHODSThis 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.RESULTSBetween 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.CONCLUSIONThere is a high prevalence of pathogenic or likely pathogenic germline BRCA mutations in Indian patients with ovarian cancer.https://ascopubs.org/doi/10.1200/GO.21.00051 |
| spellingShingle | Sudeep Gupta Senthil Rajappa Suresh Advani Amit Agarwal Shyam Aggarwal Chanchal Goswami Satya Dattatreya Palanki Devavrat Arya Shekhar Patil Rohit Kodagali Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study JCO Global Oncology |
| title | Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study |
| title_full | Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study |
| title_fullStr | Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study |
| title_full_unstemmed | Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study |
| title_short | Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study |
| title_sort | prevalence of brca1 and brca2 mutations among patients with ovarian primary peritoneal and fallopian tube cancer in india a multicenter cross sectional study |
| url | https://ascopubs.org/doi/10.1200/GO.21.00051 |
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