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000292330 041__ $$aEnglish
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000292330 1001_ $$aMuhammad, Noor$$b0
000292330 245__ $$aMarginal Contribution of Pathogenic RAD51D Germline Variants to Pakistani Early-Onset and Familial Breast/Ovarian Cancer Patients.
000292330 260__ $$aLahore, Punjab, Pakistan$$bShaukat Khanum Memorial Cancer Hospital & Research Centre$$c2024
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000292330 520__ $$aRAD51D 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% (3/371). The p.Pro10Leu variant was detected in a 28-year-old female BC patient of Punjabi ethnic background, whose mother and maternal cousin had BCs at ages 53 and 40, respectively. This variant was also detected in 1/400 (0.25%) healthy controls, where the control subject's daughter had acute lymphoblastic leukemia. The p.Ile311Asn variant was identified in a female BC patient at age 29 of Punjabi ethnicity and in 1/400 (0.25%) healthy controls, where the control subject's daughter had Hodgkin's disease at age 14. A novel intronic variant, c.481-26_-23delGTTC, was found in a 30-year-old Punjabi female BC patient but not in 400 healthy controls.No pathogenic RAD51D variant was identified in the current study. Our study data suggested a negligible association of RAD51D variants with BC/OC risk in Pakistani women.
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000292330 650_7 $$2Other$$aBreast cancer
000292330 650_7 $$2Other$$aPakistan
000292330 650_7 $$2Other$$aRAD51D
000292330 650_7 $$2Other$$agermline variants
000292330 650_7 $$2Other$$aovarian cancer
000292330 7001_ $$aAfzal, Muhammad Sohail$$b1
000292330 7001_ $$0P:(DE-He78)537e07b3e57b16c7b214fc2242e4326b$$aHamann, Ute$$b2
000292330 7001_ $$aRashid, Muhammad Usman$$b3
000292330 773__ $$0PERI:(DE-600)3008547-0$$a10.37029/jcas.v10i2.617$$gVol. 10, no. 2$$n2$$p617$$tJournal of cancer & allied specialties$$v10$$x2411-989X$$y2024
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