TY  - JOUR
AU  - Muhammad, Noor
AU  - Afzal, Muhammad Sohail
AU  - Hamann, Ute
AU  - Rashid, Muhammad Usman
TI  - Marginal Contribution of Pathogenic RAD51D Germline Variants to Pakistani Early-Onset and Familial Breast/Ovarian Cancer Patients.
JO  - Journal of cancer & allied specialties
VL  - 10
IS  - 2
SN  - 2411-989X
CY  - Lahore, Punjab, Pakistan
PB  - Shaukat Khanum Memorial Cancer Hospital & Research Centre
M1  - DKFZ-2024-01681
SP  - 617
PY  - 2024
N1  - 2024 Aug 16;10(2):617
AB  - RAD51D has been reported as a breast cancer (BC) and ovarian cancer (OC) predisposition gene, particularly among Caucasian populations. We studied the prevalence of RAD51D variants in Pakistani BC/OC patients.In total, 371 young or familial BC/OC patients were thoroughly analyzed for RAD51D sequence variants using denaturing high-performance liquid chromatography pursued by DNA sequencing of differentially eluted amplicons. We also assessed the pathogenic effects of novel variants using in-silico algorithms. All detected RAD51D variants were investigated in 400 unaffected controls.No pathogenic RAD51D variant was detected. However, we identified nine unique heterozygous variants. Of these, two missense variants (p.Pro10Leu and p.Ile311Asn) and one intronic variant (c.481-26_23delGTTC) were classified as in silico-predicted variants of uncertain significance, with a frequency of 0.8
KW  - Breast cancer (Other)
KW  - Pakistan (Other)
KW  - RAD51D (Other)
KW  - germline variants (Other)
KW  - ovarian cancer (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:39156943
C2  - pmc:PMC11326667
DO  - DOI:10.37029/jcas.v10i2.617
UR  - https://inrepo02.dkfz.de/record/292330
ER  -