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Breast cancer immunohistochemistry can be useful in triage of some HNPCC families

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Abstract

Immunohistochemistry of tumour samples is increasingly used in the triage of families where hereditary non-polyposis colorectal cancer (HNPCC) due to mismatch repair defects is suspected. Usually, this is undertaken in tumours that are a recognised part of the spectrum of HNPCC-related cancers e.g. colon or endometrial cancers. Although breast cancers are not classed as part of this spectrum, this study examined the extent to which some breast tumours do arise by the mismatch repair pathway in these families. This may have clinical utility in families where an individual with a ‘classic HNPPC-related’ tumour is not available for evaluation. Immunohistochemistry of a breast tumour may identify an individual in whom germline mutation testing is worthwhile.

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References

  1. Scott RJ, McPhillips M, Meldrum CJ et al (2001) Hereditary non-polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 68:118–127. doi:10.1086/316942

    Article  PubMed  CAS  Google Scholar 

  2. Vasen HFA, Morreau H, Nortier JWR (2001) Is breast cancer part of the spectrum of hereditary non-polyposis colorectal cancer? Am J Hum Genet 68:1533–1535. doi:10.1086/320610

    Article  PubMed  CAS  Google Scholar 

  3. Vahteristo P, Ojala S, Tamminen A et al (2005) No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer. J Med Genet 42:e22. doi:10.1136/jmg.2004.022327

    Article  PubMed  CAS  Google Scholar 

  4. Barrow E, Robinson L, Aldhuaj W, Shenton A, Lalloo F, Hill J, Evans DG (2008) Extracolonic cancers in HNPCC: cumulative lifetime incidence and tumour distribution. A report of 121 families. Clin Genet (in press)

  5. Risinger JI, Barrett JC, Watson P et al (1996) Molecular genetic evidence of occurrence of breast cancer as an integral tumor in patients with hereditary non-polyposis colorectal carcinoma syndrome. Cancer 77:1836–1843. doi:10.1002/(SICI)1097-0142(19960501)77:9<1836::AID-CNCR12>3.0.CO;2-0

    Article  PubMed  CAS  Google Scholar 

  6. Boyd J, Rhei E, Federici MG et al (1999) Male breast cancer in the hereditary non-polyposis colorectal cancer syndrome. Breast Cancer Res Treat 53:87–91. doi:10.1023/A:1006030116357

    Article  PubMed  CAS  Google Scholar 

  7. de Leeuw WJ, van Puijenbroek M, Tollenaar RA et al (2002) Correspondence re: A. Muller et al., Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer. Cancer Res 63(5):1148–1149

    Google Scholar 

  8. Hendriks YM, Wagner A, Morreau H et al (2004) Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counselling and mutations. Gastroenterology 127:17–25. doi:10.1053/j.gastro.2004.03.068

    Article  PubMed  CAS  Google Scholar 

  9. Siah SP, Quinn DM, Bennett GD et al (2000) Microsatellite instability in breast cancer: a review and study showing MSI was not detected at BAT 25 and BAT 26 microsatellite markers in early-onset breast cancer. Breast Cancer Res Treat 60:135–142. doi:10.1023/A:1006315315060

    Article  PubMed  CAS  Google Scholar 

  10. Muller A, Edmonston TB, Corao DA et al (2002) Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer. Cancer Res 62(4):1014–1019

    PubMed  CAS  Google Scholar 

  11. Westenend PJ, Schutte R, Hoogmans MMCP et al (2005) Breast cancer in an MSH2 gene mutation carrier. Hum Pathol 36:1322–1326

    Article  PubMed  CAS  Google Scholar 

  12. Kirk JA (2006) How can we best detect hereditary non-polyposis colorectal cancer? New tumour testing methods can improve the accuracy of diagnosis. Med J Aust 84(5):206–207

    Google Scholar 

  13. Vasen HF, Watson P, Mecklin JP et al (1999) New clinical criteria for hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6):1453–1456

    Article  PubMed  CAS  Google Scholar 

  14. Levi S, Urbano-Ispizua A, Gill D et al (1991) Multiple K-ras 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique. Cancer Res 51:3497–3502

    PubMed  CAS  Google Scholar 

  15. Boland CR, Thibodeau SN, Hamilton SR et al (1998) National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition:development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248–5257

    PubMed  CAS  Google Scholar 

  16. Data on breast risk from Breast Cancer Network Australia www.bcna.org.au

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Shanley, S., Fung, C., Milliken, J. et al. Breast cancer immunohistochemistry can be useful in triage of some HNPCC families. Familial Cancer 8, 251–255 (2009). https://doi.org/10.1007/s10689-008-9226-4

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  • DOI: https://doi.org/10.1007/s10689-008-9226-4

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