Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

Background Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused homology-directed DNA repair (HDDR) and BRCA complex. Methods We selected BRCA1 variant (rs80356932, 4491C/...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Breast cancer (Tokyo, Japan) Japan), 2019-05, Vol.26 (3), p.365-372
Hauptverfasser: Abbas, Saba, Siddique, Ayesha, Shahid, Naeem, Khan, Rabbia Tariq, Fatima, Warda
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Aged
BRCA1 Protein - genetics
BRCA2 Protein - genetics
BRCA2 Protein - metabolism
Breast cancer
Breast Neoplasms - genetics
Cancer
Cancer Research
DNA repair
Fanconi Anemia Complementation Group N Protein - metabolism
Female
Gene mutations
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genotype
Health aspects
Humans
Medicine
Medicine & Public Health
Middle Aged
Molecular Docking Simulation
Mutation
Oncology
Oncology, Experimental
Original Article
Pakistan
Polymorphism, Single Nucleotide
Risk factors
Surgery
Surgical Oncology
Tryptophan
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Background Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused homology-directed DNA repair (HDDR) and BRCA complex. Methods We selected BRCA1 variant (rs80356932, 4491C/T) and BRCA2 variant (rs80359182, 319T/C) from the interaction region of BRCA complex and studied in 100 breast cancer patients and 100 controls using tetra-ARMS-PCR. Results Here we show that BRCA1 and BRCA2 variants are significantly associated with high breast cancer risk ( BRCA1 rs80356932; Genotype T/T OR 8.66, 95% CI 3.16–23.71, p  
ISSN:1340-6868
1880-4233
DOI:10.1007/s12282-018-0932-y