BRCA1 and BRCA2 Mutations in Breast Cancer Patients from Northern India
Author Information
Author(s): Saxena Sunita, Chakraborty Anurupa, Kaushal Mishi, Kotwal Sanjeev, Bhatanager Dinesh, Mohil Ravindar S, Chintamani Chintamani, Aggarwal Anil K, Sharma Veena K, Sharma Prakash C, Lenoir Gilbert, Goldgar David E, Szabo Csilla I
Primary Institution: Institute of Pathology, Safdarjang Hospital Campus, New Delhi, India
Hypothesis
What is the contribution of BRCA1 and BRCA2 mutations to breast cancer risk among Indian women?
Conclusion
BRCA1 and BRCA2 mutations account for a lower proportion of breast cancer patients in Northern India than in other populations.
Supporting Evidence
- 18 genetic alterations were identified in the study.
- 3 deleterious frame-shift mutations were found in BRCA1.
- 3 pathogenic protein-truncating mutations were found in BRCA2.
- 6 out of 204 patients (2.9%) had known deleterious mutations.
Takeaway
This study looked at breast cancer patients in Northern India to see if certain gene changes were causing their cancer. They found that fewer patients had these gene changes compared to other countries.
Methodology
The study screened 204 breast cancer patients and 140 age-matched controls for mutations in the BRCA1 and BRCA2 genes using heteroduplex analysis and direct sequencing.
Limitations
The study may not have detected large genomic rearrangements that could account for additional mutations.
Participant Demographics
Patients ranged in age from 13 to 78 years, with a mean age of 40.9 years.
Digital Object Identifier (DOI)
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