Novel PALB2 deleterious mutations in breast cancer patients from South Indian population

Kumar, H.; Elancheran, Malligai; Dhamotharan, S. R.; Indrani, J. Christeena

doi:10.1016/j.genrep.2019.100492

Cited by 5 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Different types of cancer cause different mutations in the chromosomes. For example, in breast cancer, gene mutations often occur in the BRCA1, BRCA2 [1], [2], [3], [4], [5], and PALB2 genes [6].…”

Section: Introductionmentioning

confidence: 99%

Detecting Type and Index Mutation in Cancer DNA Sequence Based on Needleman–Wunsch Algorithm

Wisesty,

Mengko,

Purwarianti

et al. 2024

Jurnal Ilmu Komputer dan Informasi

View full text Add to dashboard Cite

Detecting DNA sequence mutations in cancer patients contributes to early identification and treatment of the disease, which ultimately enhances the effectiveness of treatment. Bioinformatics utilizes sequence alignment as a powerful tool for identifying mutations in DNA sequences. We used the Needleman-Wunsch algorithm to identify mutations in DNA sequence data from cancer patients. The cancer sequence dataset used includes breast, cervix uteri, lung, colon, liver and prostate cancer. Various types of mutations were identified, such as Single Nucleotide Variant (SNV)/substitution, insertion, and deletion, locate by the nucleotide index. The Needleman Wunch algorithm can detect type and index mutation with the average F1-scores 0.9507 for all types of mutations, 0.9919 for SNV, 0.7554 for insertion, and 0.8658 for deletion with a tolerance of 5 bp. The F1-scores obtained are not correlated with gene length. The time required ranges from 1.03 seconds for a 290 base pair gene to 3211.45 seconds for a gene with 16613 base pairs.

show abstract

Section: Introductionmentioning

confidence: 99%

Detecting Type and Index Mutation in Cancer DNA Sequence Based on Needleman–Wunsch Algorithm

Wisesty,

Mengko,

Purwarianti

et al. 2024

Jurnal Ilmu Komputer dan Informasi

View full text Add to dashboard Cite

show abstract

“…Breast cancer has the highest incidences among female malignancies, [16] and it ranked second among the causes of cancer‐related death in women globally [17] . Conventional therapies include surgery, chemotherapy, radiation therapy and hormone therapy or a combination of them [18,19] .…”

Section: Introductionmentioning

confidence: 99%

Exploring the Potential Mechanism of Costunolide‐Induced MCF‐7 Cells Apoptosis by Multi‐Spectroscopy, Molecular Docking and Cell Experiments

Liú

Zeng

et al. 2021

Chemistry & Biodiversity

View full text Add to dashboard Cite

Breast cancer is one of the most common cancer with high morbidity and mortality in women. This study aimed to explore the potential mechanism of costunolide inducing MCF‐7 cells apoptosis by multi‐spectroscopy, molecular docking, and cell experiments. The results manifested that costunolide interacted with calf thymus DNA (ct‐DNA) in a spontaneous manner, and the minor groove as the preferential binding mode. Furthermore, costunolide inhibited cell proliferation and colony formation. Hoechst 33258 staining showed that cell apoptosis induced by costunolide might be related to DNA damage. The apoptosis mechanism relied on regulating the protein expression of Bax, Bcl‐2, p53, Caspase‐3 and the activation of p38MAPK and nuclear factor κB (NF‐κB) pathways. This study will provide some experimental basis and potential therapeutic strategy for breast cancer treatment.

show abstract

Gene mutation detection for breast cancer disease: A review

Wisesty

Mengko

Purwarianti

2020

IOP Conf. Ser.: Mater. Sci. Eng.

View full text Add to dashboard Cite

Breast cancer is one of the most common diseases suffered, especially by women, in the world, and about two billion new cases of patients with breast cancer in 2018. Therefore, it is very important to detect cancer early. Early detection of cancer can be done through the analysis of DNA abnormalities from blood cell samples, where the sampling does not require surgery, non-invasive and painless, and can reduce the sampling cost. DNA abnormalities can occur due to heredity or gene mutation. This paper presents a systematic review that includes an explanation of DNA sequences, gene mutations that occur in breast cancer, and bioinformatics techniques for detecting breast cancer. From several studies that have been conducted in the medical field there are mutations in the BRCA1, BRCA2, and PALB2 genes, where mutations in these genes can cause an increased risk of breast cancer. Other gene mutations associated with cancer risk are ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, TP53, PTEN, RAD50, RECQL, RINT1. In bioinformatics, breast cancer detection based on DNA sequence data is carried out in three phases namely data mapping, feature extraction, and prediction / classification. The methods that can be used are Voss mapping and its variations for data mapping, statistical feature representation approach and Wavelet analysis for feature extraction, and regression approaches, probability models, Support Vector Machines, Neural Networks and Deep Learning for classification.

show abstract

Novel PALB2 deleterious mutations in breast cancer patients from South Indian population

Cited by 5 publications

References 16 publications

Detecting Type and Index Mutation in Cancer DNA Sequence Based on Needleman–Wunsch Algorithm

Detecting Type and Index Mutation in Cancer DNA Sequence Based on Needleman–Wunsch Algorithm

Exploring the Potential Mechanism of Costunolide‐Induced MCF‐7 Cells Apoptosis by Multi‐Spectroscopy, Molecular Docking and Cell Experiments

Gene mutation detection for breast cancer disease: A review

Contact Info

Product

Resources

About