First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

Genetic Testing
B ArverAnnika Lindblom

Abstract

The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families from our region in which both breast and ovarian cancer occur were likely to carry a BRCA1 mutation (34%). In breast-only cancer families, mutations were found only in those with very early onset. All breast- only cancer families with a mutation had at least one case of onset before 36 years of age and a young median age of onset (<43 years). Other malignancies than breast and ovarian cancers did not segregate in the BRCA1 families and surveillance for other malignancies is not needed, in genera...Continue Reading

References

Apr 10, 1995·American Journal of Medical Genetics·M J SellerG S Tint
Jan 18, 1996·The New England Journal of Medicine·M G FitzGeraldD A Haber
Nov 1, 1996·Nature Genetics·S MazoyerG M Lenoir
Oct 22, 1998·European Journal of Human Genetics : EJHG·J ChenA Lindblom
Sep 2, 1999·Journal of the National Cancer Institute·T R RebbeckB L Weber
Oct 3, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·A DørumP Møller
Aug 16, 2000·Proceedings of the National Academy of Sciences of the United States of America·T KainuH Nevanlinna

❮ Previous
Next ❯

Citations

Aug 30, 2001·Trends in Genetics : TIG·R OhlssonV Lobanenkov
Mar 29, 2002·International Journal of Cancer. Journal International Du Cancer·Liping LuoAnnika Lindblom
Mar 29, 2002·International Journal of Cancer. Journal International Du Cancer·Quan DuAnnika Lindblom
Sep 4, 2018·International Journal of Cancer. Journal International Du Cancer·Jingmei LiKamila Czene
Sep 4, 2004·Genetic Testing·Sara MargolinAnnika Lindblom

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.