Histopathological characterization of carcinoma breast with BRCA1/2 sequence variation in a Tertiary Care Center in Kerala, South India

Reeba Mary Issac; Prema Saldanha; Jessy Mangalathu Mathai; Jency Mathews; Rebecca Mathews; Bindu Kumari; Tiju Chacko

doi:10.4103/bbrj.bbrj_206_21

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ORIGINAL ARTICLE

Year : 2022 \| Volume : 6 \| Issue : 1 \| Page : 117-121

Histopathological characterization of carcinoma breast with BRCA1/2 sequence variation in a Tertiary Care Center in Kerala, South India Reeba Mary Issac¹, Prema Saldanha², Jessy Mangalathu Mathai¹, Jency Mathews³, Rebecca Mathews¹, Bindu Kumari⁴, Tiju Chacko⁵ ¹ Department of Pathology, Pushpagiri Institute of Medical Sciences and Research Center, Tiruvalla, Kerala, India ² Department of Pathology, Yenepoya Medical College, Yenepoya University, Mangaluru, Karnataka, India ³ Department of Surgical Oncology, Pushpagiri Institute of Medical Sciences, Tiruvalla, Kerala, India ⁴ Department of Pathology, Sree Uthradom Thirunal Academy of Medical Sciences, Trivandrum, Kerala, India ⁵ Department of Molecular Biology, Dianova Laboratories, Kottayam, Kerala, India Correspondence Address: Prema Saldanha HOD & Professor, Department of Pathology, Yenepoya Medical College, Yenepoya University, Derlakatte, Mangaluru, Karnataka India Source of Support: None, Conflict of Interest: None DOI: 10.4103/bbrj.bbrj_206_21

Background: Hereditary breast cancers constitute around 5%–10% of all breast cancers. The most commonly mutated genes in hereditary breast and ovarian cancer syndrome are the BRCA1 and BRCA2 genes. There has not been any research into the histopathological features of BRCA1/2 mutations in breast cancer in Kerala. The goal of this work was to use next-generation sequencing to look into the range of BRCA1/2 genetic variants and to discover characteristic histopathologic features associated with BRCA1/2 sequence variations. Methods: Fifty female patients diagnosed with carcinoma breast were screened for BRCA1/2 variants by next-generation sequencing. Patients were selected irrespective of age or family history of breast or ovarian cancer. The histopathological features of BRCA1/2 associated breast cancer cases were also studied. Results: We identified sequence variants in BRCA1 and BRCA2 genes in 6 women (6/50, 12%). The sequence variants included two deleterious mutations and five variants of uncertain significance. It was observed that most of the patients with BRCA1/2 sequence variants presented with aggressive tumor characteristics. Statistical significance was noted in BRCA1/2 carriers with tumors of higher histologic grade (P = 0.048). Conclusion: Morphological and immunohistochemical features of BRCA1/2-associated breast cancer may be valuable to predict mutation carrier status for appropriate therapeutic decision-making.



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