[HTML][HTML] Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition

N Brandes, N Linial, M Linial - Scientific reports, 2021 - nature.com
The characterization of germline genetic variation affecting cancer risk, known as cancer
predisposition, is fundamental to preventive and personalized medicine. Studies of genetic …

[HTML][HTML] Parent-of-Origin inference for biobanks

RJ Hofmeister, S Rubinacci, DM Ribeiro, A Buil… - Nature …, 2022 - nature.com
Identical genetic variations can have different phenotypic effects depending on their parent
of origin. Yet, studies focusing on parent-of-origin effects have been limited in terms of …

[HTML][HTML] Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir …

GR Bhat, RS Jamwal, I Sethi, A Bhat, R Shah, S Verma… - BMC cancer, 2023 - Springer
Background Telomeres are repetitive DNA sequences located at the ends of chromosomes,
playing a vital role in maintaining chromosomal integrity and stability. Dysregulation of …

Study of genetic variants in chromosome 5p15. 33 region in non-smoker lung cancer patients

I Mandour, SAM Hussein, R Essam… - Advances in Respiratory …, 2020 - mdpi.com
Introduction: Genome-wide association studies have identified that genetic polymorphisms
in the telomerase reverse transcrip-tase (TERT) and cleft lip and palate transmembrane 1 …

[HTML][HTML] Genetic analysis of polymorphism rs10937405 of TP63 gene in breast and ovarian cancer patients of North Indian Cohort

S Verma, D Bakshi, GR Bhat, A Bhat… - Journal of Cancer …, 2023 - journals.lww.com
Materials and Methods: This case–control association study conducted at the Shri Mata
Vaishno Devi University, includes 150 breast, 150 ovarian cancer cases, and 210 healthy …

Genetic association of ARID5B with the risk of colorectal cancer within Jammu and Kashmir, India

B Sharma, S Angurana, R Shah, S Verma… - Genes & Genetic …, 2021 - jstage.jst.go.jp
Colorectal cancer (CRC), which includes the development of cancer from the colon or
rectum, is one of the highly prevalent cancers in the populations of Jammu and Kashmir …

Identification of rs2736099 as a novel cis-regulatory variation for TERT and implications for tumorigenesis and cell proliferation

Q Shi, XX Zhang, XQ Shi, Y Chen, C Sun - Journal of Cancer Research …, 2023 - Springer
Purpose Lung cancer is a malignant tumor with obvious genetic predisposition. Association
studies have proposed that rs2853677, a SNP localizing at intron region of TERT …

[HTML][HTML] Can TERT rs2853669 polymorphysm indicate fibrosis in sarcoidosis?

S Kement, ET Ugurtay, AT Sayıt, P Tascı… - … , Vasculitis, and Diffuse …, 2023 - ncbi.nlm.nih.gov
Methods: A total of 93 patients, including 18 males and 73 females, who were clinically and
histopathologically diagnosed with sarcoidosis were included in the study. The 78 patients …

REV3L single nucleotide variants lead to increased susceptibility towards non-small cell lung cancer in the population of Jammu and Kashmir

RS Jamwal, N Mahajan, GR Bhat, A Bhat, R Shah… - Cancer …, 2021 - Elsevier
Background Non-small cell lung cancer (NSCLC) is the most common lung cancer,
accounting for 80–85% of all lung cancer cases. Various genetic studies have associated …

[HTML][HTML] Telomere attrition with concomitant hTERT overexpression involved in the progression of gastric cancer may have prognostic and clinical implications in high …

I Mushtaq, GR Bhat, B Rah, S Besina, S Zahoor… - Frontiers in …, 2022 - frontiersin.org
Genetic instabilities exacerbated by the dysfunction of telomeres can lead to the
development of cancer. Nearly 90% of all human malignancies are linked with telomere …