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@ARTICLE{Muhammad:292330,
      author       = {N. Muhammad and M. S. Afzal and U. Hamann$^*$ and M. U.
                      Rashid},
      title        = {{M}arginal {C}ontribution of {P}athogenic {RAD}51{D}
                      {G}ermline {V}ariants to {P}akistani {E}arly-{O}nset and
                      {F}amilial {B}reast/{O}varian {C}ancer {P}atients.},
      journal      = {Journal of cancer $\&$ allied specialties},
      volume       = {10},
      number       = {2},
      issn         = {2411-989X},
      address      = {Lahore, Punjab, Pakistan},
      publisher    = {Shaukat Khanum Memorial Cancer Hospital $\&$ Research
                      Centre},
      reportid     = {DKFZ-2024-01681},
      pages        = {617},
      year         = {2024},
      note         = {2024 Aug 16;10(2):617},
      abstract     = {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 $0.8\%$ (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.},
      keywords     = {Breast cancer (Other) / Pakistan (Other) / RAD51D (Other) /
                      germline variants (Other) / ovarian cancer (Other)},
      cin          = {B072},
      ddc          = {610},
      cid          = {I:(DE-He78)B072-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39156943},
      pmc          = {pmc:PMC11326667},
      doi          = {10.37029/jcas.v10i2.617},
      url          = {https://inrepo02.dkfz.de/record/292330},
}