RESEARCH ARTICLE Gelatinase B (-1562C/T) polymorphism in tumor progression and invasion of breast cancer P. Chiranjeevi & K. Mrudula Spurthi & N. Santhoshi Rani & G. Rajesh Kumar & T. Mohini Aiyengar & M. Saraswati & G. Srilatha & G. Kishore Kumar & Sudha Sinha & C. Sanjeeva Kumari & B. Nagarjuna Reddy & S. Vishnupriya & H. Surekha Rani Received: 11 June 2013 /Accepted: 4 September 2013 # International Society of Oncology and BioMarkers (ISOBM) 2013 Abstract Matrix metalloproteinases (MMPs) play an impor- tant role in breast cancer tumor invasion and progression. MMP-9 is a member of the MMP family and is also known as Gelatinase B or type IV collagenases (92 kDa) and possesses proteolytic activity against type IV collagen, a major compo- nent of the basement membrane. Our study aims to examine the association of Gelatinase B (−1562C>T) promoter polymor- phism with breast cancer invasion and progression. The study involves 200 breast cancer patients and age-matched 191 healthy controls. The SNP-1562C>T (rs3918242) in MMP-9 promoter region was examined by allele-specific polymerase chain reaction and gel electrophoresis. The genotypes were determined and compared between patients and controls, and the influence of the polymorphism on clinicopathological data was analyzed. The T allele of the -1562C>T MMP-9 polymor- phism was detected more frequently in breast cancer patients than controls (p <0.001). Our results suggest the clinical im- portance of MMP-9 gene polymorphism (−1562C>T) in breast cancer patients. The study may also help in identifying individ- uals at risk of developing breast cancer. Keywords Breast cancer . Tumor invasion . Allele specific . Genotyping . Matrix metalloproteinases . MMP-9 gene Abbreviations MMP-9 Matrix metalloproteinase-9 SNP Single nucleotide polymorphism AS-PCR Allele-specific polymerase chain reaction Introduction Breast cancer is a heterogeneous group of malignancies de- rived from the ductal epithelium. It is the leading cause of cancer-related death and the most common malignancy in women worldwide [1]. The incidence of breast cancer is on the rise, and this increase is highest in developing countries of Southeast Asia, Africa, and South America [2]. Breast cancer incidence rates are also increasing in all regions of India and are the commonest cancers in urban Indian females and sec- ond commonest in rural Indian women. Nearly 80,000 new cases of breast cancer in Indians are present at the late stages III and IV, and in some areas, as many as 70 % of breast cancer cases are locally advanced when diagnosed because of the lack of organized screening programs, paucity of diagnostic aids, and general indifference toward the health of women in the predominantly patriarchal Indian Society [3]. The etiology of breast cancer is multifactorial, resulting from the interplay of genetic, environmental, and lifestyle risk factors [4]. Mutations in BRCA1 , BRCA2 , and p53 as well as in DNA repair genes such as ATM , ATM1 , and PALB2 were found to be associated with breast cancer [5]. Geographical variation in the incidence of breast cancer can be attributed to exposure to various risk factors. Among these, the high risk factors are early menarche, late menopause, late first full-term pregnancy, nulliparity, no breast feeding, and family history of breast cancer in two or more first-degree relatives. The minor risk factors are obesity in postmenopausal women, hormone P. Chiranjeevi : K. M. Spurthi : N. S. Rani : G. R. Kumar : T. M. Aiyengar : M. Saraswati : G. Srilatha : G. K. Kumar : S. Vishnupriya : H. S. Rani (*) Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh 500 007, India e-mail: surekharanih@gmail.com S. Sinha : C. S. Kumari : B. N. Reddy M.N.J Institute of Oncology & Regional Cancer Centre, Red Hills, Hyderabad, Andhra Pradesh, India Tumor Biol. DOI 10.1007/s13277-013-1181-5