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Celestino-Soper, P.B., Skinner, C., Schroer, R., Eng, P., Shenai, J., Nowaczyk, M.M., Terespolsky, D., Cushing, D., Patel, G.S., Immken, L., Willis, A., Wiszniewska, J., Matalon, R., Rosenfeld, J.A., Stevenson, R.E., Kang, S.H., Cheung, S.W., Beaudet, A.L. and Stankiewicz, P. (2012) Deletions in Chromosome 6p22.3-p24.3, Including ATXN1, Are Associated with Developmental Delay and Autism Spectrum Disorders. Molecular Cytogenetics, 5, 17.
https://doi.org/10.1186/1755-8166-5-17

has been cited by the following article:

• TITLE: Cancer Susceptibility for Male Breast Cancer Assessed by SNP-A Analysis and Risk Alleles of TP53, MDM2, VEGF, VEGFR1, HIF1A and BRCA1

  AUTHORS: Sarika Sharma, Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Neeti Rajan Singh, Mridu Manjari

  KEYWORDS: Breast Cancer, Aneuploidy, Polymorphism, CN-LOH, SNP-A

  JOURNAL NAME: Advances in Breast Cancer Research, Vol.10 No.4, October 29, 2021

  ABSTRACT: Male Breast Cancer (MBC) has a familial component thus identification of polymorphic risk alleles of candidate genes and/or cytogenetic anomalies may help to predict the risk for the offspring of MBC patients. The conventional metaphase cytogenetics can indicate loci that are hotspots while analysis by single nucleotide polymorphism arrays (SNP-A) can identify chromosomal defects which may play a role in the etiology of cancer. A cumulative genotype risk due to each allele of candidate genes of the signaling pathways regulating c-MYC, HIF1A, TP53 and BRCA1 may be a factor facilitating cancer development. Cancer risk was assessed in a 35-year-old healthy son of a 60-year-old MBC patient with a family history of cancer by metaphase cytogenetics, SNP-A and analysis of 25 polymorphisms in six genes TP53, MDM2, VEGF, VEGFR1, HIF1A, and BRCA1. The risk genotype GG-TT of MDM2 309T > G and VEGF-417C/T polymorphisms along with chromosomal instability shown by cytogenetic analysis and SNP-A, rare de novo duplication Yp, deletion in 7q pericentromeric region indicate an increased risk of cancer in the healthy son of an MBC patient.