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Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome

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Abstract

A male member of a large HNPCC kindred, affected by primary malignancies of the breast and colon, was identified. This individual was found to harbor a germline mutation of the MLH1 mismatch repair gene previously shown to segregate with disease in this kindred. The breast tumor exhibited somatic reduction to homozygosity for the MLH1 mutation, and microsatellite instability was evident in the breast tumor. We conclude that hereditary male breast cancer can occur as an integral tumor in the HNPCC syndrome.

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References

  1. Miller BA, Ries LAG, Hankey BF. Kosary CL. Harras A, Devesa SS. Edwards BK: SEER Cancer Statistics Review: 1973-1990 (NIH Pub. No. 93-2789). National Cancer Institute, Bethesda, 1993

    Google Scholar 

  2. Borgen PI, Senie RT, McKinnon WMP, Rosen PP: Carcinoma of the male breast: Analysis and prognosis compared with matched female patients. Ann Surg Oncol 4: 385-388, 1997

    Google Scholar 

  3. Sasco AJ, Lowenfels AB, Pasker-de Jong P: Review article: epidemiology of male breast cancer. A meta-analysis of published case-control studies and discussion of selected aetiological factors. Int J Cancer 53: 538-549, 1993

    Google Scholar 

  4. Olsson H, Andersson H, Johansson 0, Moller TR, Kristoffersson U, Wenngren E.: Population-based cohort investigations of the risk lor malignant tumors in first-degree relatives and wives of men with breast cancer. Cancer 71: 1273-1278,1993

    Google Scholar 

  5. Rosenblatt KA, Thomas DB, MeTiernan A, Austin MA, Stalsberg H, Stemhagen A, Thompson WD, Cumen MG. Sataraino W, Austin DF: Breast cancer in men: Aspecls ot familial aggregation. J Natl Cancer Inst 83: 849-854, 1991

    Google Scholar 

  6. Couch FJ. Farid LM, DeShano ML, Tavtigian SV, Calzone K-, Campeau L, Peng V, Bogden R, Chen Q. Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S. Rommens J, Simard J, Garber J. Merajver S, Weber BL: BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet 13: 123-125, 1996

    Google Scholar 

  7. Friedman LS, Gayther SA, Kurosaki T, Gordon D, Noble B, Casey G, Ponder BAJ, Aton-Culver IT Mutation analysis of BRCA1 and BRCA2 in a male breast, cancer population. Am J Hum Genet 60: 313-319. 1997

    Google Scholar 

  8. Struewing JP, Brody LC, Erdos MR. Kase RG. Giambarresi TR, Smith SA, Collins 1-S. Tucker MA: Delectiirn of eight BRCAl mutations in 10 breasl/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet57:1-7,1995

    Google Scholar 

  9. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BAJ, ~Stratton MR: A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genet 2: 132-134, 1992

    Google Scholar 

  10. Lobaccaro J-M. Lumbroso S, Belon C, Galtier-Dereure F, Bringer J. Lesimple T, Heron J-F, Pujol H. Sultan C: Male breast cancer and the androgen receptor gene. Nature Genet 5:109-110,1993

    Google Scholar 

  11. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch PM, Cavalieri RJ, Boland CR: Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer. Gastroenterology 104: 1535-1549, 1993

    Google Scholar 

  12. Marra G, Boland CR: Hereditary nonpolyposis colorectal cancer, the.syndrome, the genes, and historical perspectives. J Natl Cancer Inst 87: 1114-1125, 1995

    Google Scholar 

  13. Vasen HFA, Offerhaus GJA, den Hartog Jager FCA, Menko FH, Nagengast FM, Griffioen G, van Hogezand RB, Heintz: APM: The tumour spectrum in hereditary non-polyposis coloreclal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer 46: 31-34, 1990

    Google Scholar 

  14. Mecklin J-P, Jarvinen ITJ, Tumor spectrum in cancer family syndrome (hereditary nonpolyposis coloreclal cancer). Cancer 68: 1109-1112,1991

    Google Scholar 

  15. Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685, 1993

    Google Scholar 

  16. Itoh H, Houlston RS. Harocopos C, Slack J: Risk of cancer death in first-degree relatives ot patients with hereditary non-polyposis cancer syndrome (Lynch type II): a study of 130 kindreds in the United Kingdom. Br J Surg 77: 1367-1370,1990

    Google Scholar 

  17. Nelson CL, Sellers TA, Rich SS, Potter JD, McGovern PG, Kushi LH: Familial clustering of colon, breast, uterine, and ovarian cancers as assessed by family history. Genet Epidemiol 10:235-244,1993

    Google Scholar 

  18. Risinger Jl. Barrett JC, Watson P, Lynch HT, Boyd J: Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer 77: 1836-1843, 1996

    Google Scholar 

  19. Fishel R, Kolodnor R: Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet Dev 5: 382-395, 1995

    Google Scholar 

  20. Boyd J, Takahashi H, Waggoner SE, Jones LA, Hajek RA, Wharton JT, Liu F-S, Fujino T, Barrett JC, McLachlan,IA: Molecular genetic analysis of clear cell adenocarcinomas of the vagina and cervix associated and unassociated with diethylstilbestrol exposure in utero. Cancer 77: 507-513,1995

    Google Scholar 

  21. Parsons R, Mycroff L, Liu B, Willson JKV, Markowitz S, Kinzler KW, Vogelstein B: Microsatellite instability and mutations of the transforming growth factor β type II receplor gene in colorecta! cancer. Cancer Res 55: 5548-5550. 1995

    Google Scholar 

  22. Lynch HT, Bronson EK, Strayhorn FC. Smyrk TC, Lynch JF, Ploetner EJ: Genetic diagnosis of Lynch syndrome II in an extended colorectal cancer-prone family. Cancer 66: 2233-2238, 1990

    Google Scholar 

  23. Hoang J-M, Cottu PH. Thuilie B, Salmon RJ, Thomas G, Hamelin R: BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 57: 300-303, 1997

    Google Scholar 

  24. Papadopoulos N, Nicolaides NC, Wei Y-F, Ruben BM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin J-P, de la Chapelle A, Kinzler KW, Volgelstein B: Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994

    Google Scholar 

  25. Hackman P, Tannergård P, Osci-Mensa S, Chen J, Kane MF, Kolodner R, Lambert B, Hellgren D, Lindblom A: A human compound heterozygote MLH1 missense mutations. Nature Genet 17: 135-136, 1997

    Google Scholar 

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Boyd, J., Rhei, E., Federici, M.G. et al. Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 53, 87–91 (1999). https://doi.org/10.1023/A:1006030116357

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