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Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India

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An Erratum to this article was published on 14 June 2014

Abstract

The incidence of breast cancer in India is on the rise and is rapidly becoming the number one cancer in females pushing the cervical cancer to the second position. The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. The main objective of the study was to determine the frequency of the mutation 5382insC in BRCA1 of eastern Indian breast cancer patients and also study the hormonal receptor status and histopathology of the patients. Altogether 92 patients affected with breast cancer were included in this study. ARMS-PCR based amplification was used to detect the presence of mutation. The mutations were considered only after pedigree analysis. Out of 92 patients (age range: 20–77 years) with family history (57 individuals) and without family history (35 individuals) were screened. Fifty controls have been systematically investigated. Seven patients and two family members were found to be carriers of 5382insC mutation in BRCA1 gene. We have found 42.64 % ER−/PR− cancer and 20.58 % triple negative cancer. Invasive ductal carcinoma is the most common histology among the investigated individuals. The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Eastern India, which may justify an extended BRCA1 5382insC testing within this patient population. We found HER-2/neu negativity and BRCA1 positivity associated with familial breast cancer. From the hospital’s patient history, it was revealed that the age of menarche plays an important role in development of breast cancer.

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Abbreviations

BC:

Breast cancer

OC:

Ovarian cancer

ER:

Estrogen receptor

PR:

Progesterone receptor

TNBC:

Triple negative breast cancer

HER2:

Human epidermal growth factor receptor 2

PTEN:

Phosphate and tensin homolog

ICMR:

Indian Council of Medical Research

PBCR:

Population based cancer registry

BRCA1:

Breast cancer gene one

BRCA2:

Breast cancer gene two

ATM:

Ataxia telangiectasia mutated gene

p53:

Tumor protein 53

ARMS-PCR:

Amplification refractory mutation system-polymerase chain reaction

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Acknowledgments

We owe our sincere acknowledgement to the patients and their family members for their extensive cooperation with us and participating in the study. We are also grateful to Ms Nabamita Pal, Mr. Raghabendra Mishra, Swati Dasgupta, Priyabrata Das and Mr. Kunal Chakraborty for their valuable contribution. We also thank all the staffs in the hospital who have helped to accomplish the study successfully.

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Authors and Affiliations

  1. Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), 16A Park Lane, Kolkata, 700016, India

    Abhijit Chakraborty, Deboshree Bhattacharyya, Soma Mukhopadhyay & Jayasri Basak

  2. Department of Medical Oncology, NCRI, Kolkata, India

    Ashis Mukhopadhyay

  3. Department of Gynecological Oncology, NCRI, Kolkata, India

    Chinmoy Kr. Bose

  4. Molecular & Human Genetics Division, Indian Institute of Chemical Biology (IICB), Kolkata, India

    Keya Choudhuri

Authors
  1. Abhijit Chakraborty
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  2. Ashis Mukhopadhyay
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  3. Deboshree Bhattacharyya
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  4. Chinmoy Kr. Bose
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  5. Keya Choudhuri
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  6. Soma Mukhopadhyay
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  7. Jayasri Basak
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Correspondence to Jayasri Basak.

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Chakraborty, A., Mukhopadhyay, A., Bhattacharyya, D. et al. Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India. Familial Cancer 12, 489–495 (2013). https://doi.org/10.1007/s10689-012-9590-y

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  • DOI: https://doi.org/10.1007/s10689-012-9590-y

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