Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer

We ascertained 184 Ashkenazi Jewish women with breast/ovarian cancer (171 breast and 13 ovarian cancers, two of the former also had ovarian cancer) in a self-referral study. They were tested for germline founder mutations in BRCA1 (185delAG, 5382insC, 188del11) and BRCA2 (6174delT). Personal/family...

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Bibliographic Details
Published in:Journal of medical genetics 1999-05, Vol.36 (5), p.369-373
Main Authors: Hodgson, Shirley V, Heap, Elizabeth, Cameron, June, Ellis, David, Mathew, Christopher G, Eeles, Rosalind A, Solomon, Ellen, Lewis, Cathryn M
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Ashkenazi Jewish
Biological and medical sciences
BRCA1
BRCA2
BRCA2 Protein
breast cancer
Breast Neoplasms - genetics
Female
Founder Effect
Genes, BRCA1 - genetics
Genetic Testing
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
Jews - genetics
Mammary gland diseases
Medical sciences
Middle Aged
Neoplasm Proteins - genetics
Original
Ovarian cancer
Ovarian Neoplasms - genetics
Risk Factors
Transcription Factors - genetics
Tumors
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Summary:We ascertained 184 Ashkenazi Jewish women with breast/ovarian cancer (171 breast and 13 ovarian cancers, two of the former also had ovarian cancer) in a self-referral study. They were tested for germline founder mutations in BRCA1 (185delAG, 5382insC, 188del11) and BRCA2 (6174delT). Personal/family histories were correlated with mutation status. Logistic regression was used to develop a model to predict those breast cancer cases likely to be germline BRCA1/BRCA2 mutation carriers in this population. The most important factors were age at diagnosis, personal/family history of ovarian cancer, or breast cancer diagnosed before 60 years in a first degree relative.  A total of 15.8% of breast cancer cases, one of 13 ovarian cancer cases (7.7%), and both cases with ovarian and breast cancer carried one of the founder mutations. Age at diagnosis in carriers (44.6 years) was significantly lower than in non-carriers (52.1 years) (p
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.5.369