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

von Wachenfeldt, Anna; Lindblom, Annika; Gronberg, Henrik; Einbeigi, Zakaria; Rosenquist, Richard; Gardman, Camilla and Iselius, Lennart (2007) In Hereditary Cancer in Clinical Practice 5(1). p.17-24
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... (More)
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. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
syndromes, family history, breast cancer, endometrial cancer, genetics
in
Hereditary Cancer in Clinical Practice
volume
5
issue
1
pages
17 - 24
publisher
Termedia Publishing House
external identifiers
  • wos:000258747500003
  • scopus:34147222282
ISSN
1897-4287
language
English
LU publication?
no
id
768f5cbc-6358-4aff-9bf0-49adb2e2dee8 (old id 1406041)
alternative location
http://www.hccpjournal.com/content/pdf/1897-4287-5-1-17.pdf
date added to LUP
2009-06-05 11:29:32
date last changed
2017-07-02 03:41:18
@article{768f5cbc-6358-4aff-9bf0-49adb2e2dee8,
  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.},
  author       = {von Wachenfeldt, Anna and Lindblom, Annika and Gronberg, Henrik and Einbeigi, Zakaria and Rosenquist, Richard and Gardman, Camilla and Iselius, Lennart},
  issn         = {1897-4287},
  keyword      = {syndromes,family history,breast cancer,endometrial cancer,genetics},
  language     = {eng},
  number       = {1},
  pages        = {17--24},
  publisher    = {Termedia Publishing House},
  series       = {Hereditary Cancer in Clinical Practice},
  title        = {A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families},
  volume       = {5},
  year         = {2007},
}