This paper is published in Volume-3, Issue-6, 2017
Area
Cancer Genetics
Author
Sirisha Pemmaraju, Lingaiah Amidyala, Ravindra Vottery, Pratibha Nallari, A. Venkateshwari
Org/Univ
Institute of Genetics & Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana, India
Pub. Date
22 December, 2017
Paper ID
V3I6-1410
Publisher
Keywords
Ovarian Cancer, PALB2, BRCA1, BRCA2, Haplo Analysis.

Citationsacebook

IEEE
Sirisha Pemmaraju, Lingaiah Amidyala, Ravindra Vottery, Pratibha Nallari, A. Venkateshwari. Association of Common PALB2 Polymorphisms with Ovarian Cancer: A Case-Control Study, International Journal of Advance Research, Ideas and Innovations in Technology, www.IJARIIT.com.

APA
Sirisha Pemmaraju, Lingaiah Amidyala, Ravindra Vottery, Pratibha Nallari, A. Venkateshwari (2017). Association of Common PALB2 Polymorphisms with Ovarian Cancer: A Case-Control Study. International Journal of Advance Research, Ideas and Innovations in Technology, 3(6) www.IJARIIT.com.

MLA
Sirisha Pemmaraju, Lingaiah Amidyala, Ravindra Vottery, Pratibha Nallari, A. Venkateshwari. "Association of Common PALB2 Polymorphisms with Ovarian Cancer: A Case-Control Study." International Journal of Advance Research, Ideas and Innovations in Technology 3.6 (2017). www.IJARIIT.com.

Abstract

Background: The partner and localizer of breast cancer 2 (PALB2) has an essential role in BRCA2 mediated DNA double-strand break repair by serving as a bridging molecule and acting as the physical and functional link between BRCA1& 2 proteins. Truncating mutations in the PALB2 gene are rare but are thought to be associated with increased risk of developing breast and /or ovarian cancer in different populations. The present study was designed to investigate the variants of PALB2 and their association with OC. Material & Methods: A total of 150 histopathologically confirmed ovarian cancer patients and 250 healthy age-matched controls were collected. Three SNPs c.2794 G/A( rs45624036), c.1010 T/C(rs45494092), and c.1676A/G(rs152451) of PALB2 gene were selected and genotyped by ARMS-PCR followed by agarose gel electrophoresis. Appropriate statistical tests were applied to test for the significance of the results. Results: A significant association of G/A (rs45624036) in inheritance models was observed & at the allelic level, the A allele conferred four-fold increased risk compared to G allele. Regarding T/C (rs45494092) polymorphism all the models revealed an association with OC and C allele showing eight-fold increased risk. With respect to A/G(rs152451) polymorphism, the protective role was observed in tested inheritance models in OC patients. The Haplo analysis for the combination of all the three variants revealed increased risk with A-T-A and G-C- G haplotypes.(OR=4.50 ;95%CI 1.85-10.94;p=0.001,OR=26.36 ;95%CI 2.33 -297.91;p= 0.0085), whereas other haplotypes conferred a protective role in OC. Conclusions: The present study suggests an essential role of PALB2 in the etiology of ovarian cancer.