Details

Autor(en) / Beteiligte

• GAD, Sophie
• CAUX-MONCOUTIER, Virginie
• CHEVRIER, Annie
• ROSSI, Annick
• FRICKER, Jean-Pierre
• TAN DAT NGUYEN
• DEMANGE, Liliane
• AURIAS, Alain
• BENSIMON, Aaron
• STOPPA-LYONNET, Dominique
• PAGES-BERHOUET, Sabine
• GAUTHIER-VILLARS, Marion
• COUPIER, Isabelle
• PUJOL, Pascal
• FRENAY, Marc
• GILBERT, Brigitte
• MAUGARD, Christine
• BIGNON, Yves-Jean

Titel

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

Ist Teil von

• Oncogene, 2002-10, Vol.21 (44), p.6841-6847

Ort / Verlag

Basingstoke: Nature Publishing

Erscheinungsjahr

2002

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Genetic linkage data have shown that alterations of the BRCA1 gene are responsible for the majority of hereditary breast-ovarian cancers. However, BRCA1 germline mutations are found much less frequently than expected, especially as standard PCR-based mutation detection approaches focus on point and small gene alterations. In order to estimate the contribution of large gene rearrangements to the BRCA1 mutation spectrum, we have extensively analysed a series of 120 French breast-ovarian cancer cases. Thirty-eight were previously found carrier of a BRCA1 point mutation, 14 of a BRCA2 point mutation and one case has previously been reported as carrier of a large BRCA1 deletion. The remaining 67 cases were studied using the BRCA1 bar code approach on combed DNA which allows a panoramic view of the BRCA1 region. Three additional rearrangements were detected: a recurrent 23.8 kb deletion of exons 8-13, a 17.2 kb duplication of exons 3-8 and a 8.6 kb duplication of exons 18-20. Thus, in our series, BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% (4/42) of the BRCA1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.