Journal
JOURNAL OF MEDICAL GENETICS
Volume 48, Issue 1, Pages 64-68Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2010.079814
Keywords
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Funding
- NHMRC [145684, 288704, 454508]
- National Cancer Institute, National Institutes of Healt [RFA-CA-06-503]
- Cancer Care Ontario [U01 CA69467]
- Columbia University [U01 CA69398]
- Fox Chase Cancer Center [U01 CA69631]
- Northern California Cancer Center [U01 CA69417]
- University of Melbourne [U01 CA69638]
- Research Triangle Institute Informatics Support Center [N02PC45022-46]
- National Breast Cancer Foundation
- National Health and Medical Research Council
- Queensland Cancer Fund
- Cancer Councils of New South Wales, Victoria, Tasmania and South Australia
- Cancer Foundation of Western Australia
- Breast Cancer Research Foundation
- Canadian Cancer Society [18381]
- Dana Farber/Harvard Cancer Center Breast SPORE (NIH/NCI) [P50-CA89393]
- University of British Columbia
- Cancer Institute NSW
- Charles A. King Trust
- Bank of America
- Co-Trustee (Boston, MA)
- Humane Society
- Harvard Catalyst
- Harvard Clinical and Translational Science Center [UL1 RR 025758]
- Harvard University
- NATIONAL CANCER INSTITUTE [P50CA089393, U01CA069631, U01CA069467, U01CA069638, U01CA069417, U01CA069398] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025758] Funding Source: NIH RePORTER
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Background Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such condition. Method To determine if CDH1 is a susceptibility gene for lobular breast cancer in women without a family history of diffuse gastric cancer, germline DNA was analysed for the presence of CDH1 mutations in 318 women with lobular breast cancer who were diagnosed before the age of 45 years or had a family history of breast cancer and were not known, or known not, to be carriers of germline mutations in BRCA1 or BRCA2. Cases were ascertained through breast cancer registries and high-risk cancer genetic clinics (Breast Cancer Family Registry, the kConFab and a consortium of breast cancer genetics clinics in the United States and Spain). Additionally, Multiplex Ligation-dependent Probe Amplification was performed for 134 cases to detect large deletions. Results No truncating mutations and no large deletions were detected. Six non-synonymous variants were found in seven families. Four (4/318 or 1.3%) are considered to be potentially pathogenic through in vitro and in silico analysis. Conclusion Potentially pathogenic germline CDH1 mutations in women with early-onset or familial lobular breast cancer are at most infrequent.
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