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Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier

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Abstract

BRCA1 functions as a tumor suppressor gene and germline and somatic mutations in this gene have been shown to be associated with many types of cancer. We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutation-c.68_69delAG.

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References

  1. Rahman N, Stratton MR (1998) The genetics of breast cancer susceptibility. Annu Rev Genet 32:95–121

    Article  PubMed  CAS  Google Scholar 

  2. Moynahan ME et al (1999) Brca1 controls homology-directed DNA repair. Mol Cell 4(4):511–518

    Article  PubMed  CAS  Google Scholar 

  3. The Human Protein Atlas. http://www.proteinatlas.org/. Accessed 25 June 2012

  4. Chen M et al (2009) Genome-wide profiling of chromosomal alterations in renal cell carcinoma using high-density single nucleotide polymorphism arrays. Int J Cancer 125(10):2342–2348

    Article  PubMed  CAS  Google Scholar 

  5. Pena-Llopis S et al (2012) BAP1 loss defines a new class of renal cell carcinoma. Nat Genet

  6. Leongamornlert D et al (2012) Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer

  7. Rashid MU et al (2011) Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan. Fam Cancer 10(4):709–712

    Article  PubMed  Google Scholar 

  8. Thompson D, Easton DF (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94(18):1358–1365

    Article  PubMed  CAS  Google Scholar 

  9. Kawakami T et al (2003) Multipoint methylation and expression analysis of tumor suppressor genes in human renal cancer cells. Urology 61(1):226–230

    Article  PubMed  Google Scholar 

  10. Moynahan ME, Cui TY, Jasin M (2001) Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res 61(12):4842–4850

    PubMed  CAS  Google Scholar 

  11. Wang Z et al (2012) The role of PARP1 in the DNA damage response and its application in tumor therapy. Front Med 6(2):156–164

    Article  PubMed  Google Scholar 

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Acknowledgments

We thank the Tumor Procurement Service, Memorial Sloan-Kettering Cancer Center for their help with retrieval of tumor tissue, and Ms. Marina Asher, Pathology Core Service, Memorial Sloan-Kettering Cancer Center for assistance with the BRCA1 immunohistochemistry. We also acknowledge support of the Ruth Silverman Trust, the Claire and Meyer W. Frank and Leann Frank Foundation and the D’Agostino Foundation.

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We have no potential conflicts of interest relevant to this letter.

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Correspondence to Kenneth Offit.

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Alanee, S., Shah, S., Murali, R. et al. Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier. Familial Cancer 12, 125–127 (2013). https://doi.org/10.1007/s10689-012-9572-0

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