Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

De novo mutations are rarely reported in BRCA1 and BRCA2 . We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.

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Bibliographische Detailangaben
Veröffentlicht in:	Familial cancer 2009-12, Vol.8 (4), p.479-482
Hauptverfasser:	Edwards, Emma, Yearwood, Catharina, Sillibourne, Julie, Baralle, Diana, Eccles, Diana
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Biomedical and Life Sciences Biomedicine BRCA1 Protein - genetics Breast Neoplasms - genetics Cancer Research Carcinoma, Ductal, Breast - genetics Epidemiology Female Genes, BRCA1 Human Genetics Humans Mutation Pedigree
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Beschreibung
Zusammenfassung:	De novo mutations are rarely reported in BRCA1 and BRCA2 . We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.
ISSN:	1389-9600 1573-7292
DOI:	10.1007/s10689-009-9270-8