Display options
Cite
von Wachenfeldt A, Lindblom A, et al. A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families. Hered Cancer Clin Pract. 2007;5(1):17-24doi: 10.1186/1897-4287-5-1-17.
von Wachenfeldt, A., Lindblom, A., Grönberg, H., Einbeigi, Z., Rosenquist, R., Gardman, C., & Iselius, L. (2007). A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families. Hereditary cancer in clinical practice, 5(1), 17-24. https://doi.org/10.1186/1897-4287-5-1-17
von Wachenfeldt, Anna, et al. "A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families." Hereditary cancer in clinical practice vol. 5,1 (2007): 17-24. doi: https://doi.org/10.1186/1897-4287-5-1-17
von Wachenfeldt A, Lindblom A, Grönberg H, Einbeigi Z, Rosenquist R, Gardman C, Iselius L. A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families. Hered Cancer Clin Pract. 2007 Mar 15;5(1):17-24. doi: 10.1186/1897-4287-5-1-17. PMID: 19769788; PMCID: PMC3401933.
Copy Download .nbib Format: NLM
Share it on

Hered Cancer Clin Pract. 2007 Mar 15;5(1):17-24. doi: 10.1186/1897-4287-5-1-17.

A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families.

Hereditary cancer in clinical practice

Anna von Wachenfeldt, Annika Lindblom, Henrik Grönberg, Zakaria Einbeigi, Richard Rosenquist, Camilla Gardman, Lennart Iselius

Affiliations

  1. Department of Oncology, Karolinska University Hospital, Sodersjukhuset, Karolinska Institute, Stockholm, Sweden. [email protected]

PMID: 19769788 PMCID: PMC3401933 DOI: 10.1186/1897-4287-5-1-17

Abstract

Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in combination with other types of tumours. In a search for new putative familial breast cancer syndromes we studied Swedish families undergoing genetic counselling during 1992-2000.Four thousand families from counselling clinics in Sweden were eligible for study. Families with breast cancer only were excluded, as were families with mutations in genes already known to be associated with malignant diseases. We identified 803 families with two or more cases of breast cancer and at least one other type of cancer. The observed proportion of different types of non-breast cancer was compared with the percentage distribution of non-breast cancer tumours in Sweden in 1958 and 1999.We found tumours in the colon, ovary, endometrium, pancreas and liver, as well as leukaemia in a significantly larger proportion of the study population than in the general population in both years. These tumours were also seen among families where several members had one additional tumour, suggesting that malignancies at these sites, in combination with breast tumours, could constitute genetic syndromes. Endometrial carcinoma has not previously been described in the context of breast cancer syndromes and the excess of malignancies at this site could not be explained by secondary tumours. Thus, we suggest that endometrial carcinoma and breast cancer constitute a new breast cancer syndrome. Further investigation is warranted to categorize phenotypes of both breast and endometrial tumours in this subgroup.

References

  1. Cancer Epidemiol Biomarkers Prev. 2001 Feb;10(2):83-7 - PubMed
  2. Genet Test. 1999;3(2):223-6 - PubMed
  3. Breast Cancer Res. 2001;3(3):199-207 - PubMed
  4. Am J Hum Genet. 2004 Jun;74(6):1175-82 - PubMed
  5. Nat Genet. 1997 May;16(1):64-7 - PubMed
  6. N Engl J Med. 2000 Jul 13;343(2):78-85 - PubMed
  7. Int J Cancer. 2004 Apr 10;109(3):430-5 - PubMed
  8. Br J Cancer. 2003 Oct 20;89(8):1513-6 - PubMed
  9. Cancer Res. 2004 Feb 1;64(3):840-3 - PubMed
  10. Cancer. 2004 Apr 1;100(7):1345-51 - PubMed
  11. Eur J Cancer. 2001 Oct;37(15):1904-9 - PubMed
  12. Am J Hum Genet. 1991 Feb;48(2):232-42 - PubMed
  13. Cancer Res. 1998 Apr 1;58(7):1376-9 - PubMed
  14. Gynecol Oncol. 2000 Dec;79(3):477-81 - PubMed
  15. Cancer Genet Cytogenet. 1996 Dec;92(2):130-4 - PubMed
  16. Science. 1999 Dec 24;286(5449):2528-31 - PubMed
  17. Hum Genet. 1998 Jan;102(1):124-5 - PubMed
  18. Br J Cancer. 1997;75(8):1201-4 - PubMed
  19. J Natl Cancer Inst. 2000 Aug 2;92(15):1260-6 - PubMed
  20. Am J Epidemiol. 1990 Jun;131(6):961-72 - PubMed
  21. J Natl Cancer Inst. 2002 Feb 6;94(3):205-15 - PubMed
  22. Acta Oncol. 2004;43(7):637-49 - PubMed
  23. Am J Pathol. 1999 Aug;155(2):337-42 - PubMed
  24. Ann Intern Med. 1969 Oct;71(4):747-52 - PubMed
  25. J Natl Cancer Inst. 1983 Sep;71(3):463-7 - PubMed

Publication Types