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Clin Genet. 2018 May;93(5):1063-1068. doi: 10.1111/cge.13191. Epub 2018 Mar 25.

The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer.

Author information

1
Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, Canada.
2
Women's College Research Institute, Women's College Hospital, Toronto, Canada.
3
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
4
Division of Gynecologic Oncology, Princess Margaret Hospital, University Health Network, Toronto, Canada.
5
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska.
6
Department of Gynecology and Oncology, Cedars Sinai Medical Center, Los Angeles, California.
7
Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Canada.
8
Department of Obstetrics and Gynecology and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
9
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California.
10
Division of Human Genetics, Comprehensive Cancer Center, The Ohio State University Medical Center, Columbus, Ohio.
11
Toronto-Sunnybrook Regional Cancer Center, Toronto, Canada.

Abstract

The objective of this study was to estimate the lifetime risk of breast cancer in women with a BRCA1 or BRCA2 mutation with and without at least 1 first-degree relative with breast cancer. A total of 2835 women with a BRCA1 or BRCA2 mutation were followed. Age- and gene-specific breast cancer rates were calculated. The relative risks of breast cancer for subjects with a family history of breast cancer, compared to no family history were calculated. The mean age at baseline was 41.1 years, and they were followed for a mean of 6.0 years. The estimated penetrance of breast cancer to age 80 years was 60.8% for BRCA1 and 63.1% for BRCA2. For all BRCA carriers, the penetrance of breast cancer to age 80 for those with no first-degree relative with breast cancer was 60.4% and 63.3% for those with at least 1 first-degree relative with breast cancer. The risk of breast cancer for BRCA carriers with no first-degree relative with breast cancer is substantial, and as a result, clinical management for these women should be the same as those for women with an affected relative.

KEYWORDS:

BRCA1; BRCA2; breast cancer; family history

PMID:
29206279
DOI:
10.1111/cge.13191

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