Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene
2000
E-cadherin mutations and lobular carcinoma in situ
Sample size: 65
publication
Evidence: moderate
Author Information
Author(s): Rahman N, Stone J G, Coleman G, Gusterson B, Seal S, Marossy A, Lakhani S R, Ward A, Nash A, McKinna A, A'Hern R, Stratton M R, Houlston R S
Primary Institution: Institute of Cancer Research
Hypothesis
Do constitutional mutations in the E-cadherin gene cause lobular carcinoma in situ (LCIS) of the breast?
Conclusion
E-cadherin is unlikely to act as a susceptibility gene for lobular carcinoma in situ.
Supporting Evidence
- Four polymorphisms were detected but no pathogenic mutations were identified.
- The study suggests that LCIS may result from mutation of a gene or genes conferring a high risk of LCIS.
Takeaway
The study looked at whether a specific gene mutation causes a type of breast disease called lobular carcinoma in situ, and found that it does not.
Methodology
Examined a series of 65 LCIS patients for germline E-cadherin mutations.
Participant Demographics
Predominantly women aged between 40 and 50 years.
Digital Object Identifier (DOI)
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