Ontology highlight
ABSTRACT:
SUBMITTER: Casilli F
PROVIDER: S-EPMC2564582 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
Casilli F F Tournier I I Sinilnikova O M OM Coulet F F Soubrier F F Houdayer C C Hardouin A A Berthet P P Sobol H H Bourdon V V Muller D D Fricker J P JP Capoulade-Metay C C Chompret A A Nogues C C Mazoyer S S Chappuis P P Maillet P P Philippe C C Lortholary A A Gesta P P Bézieau S S Toulas C C Gladieff L L Maugard C M CM Provencher D M DM Dugast C C Delvincourt C C Nguyen T D TD Faivre L L Bonadona V V Frébourg T T Lidereau R R Stoppa-Lyonnet D D Tosi M M
Journal of medical genetics 20060901 9
<h4>Background</h4>Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer.<h4>Objective</h4>To estimate the contribution of large genomic rearrangements to the spectrum of BRCA2 defects.<h4>Methods</h4>Quantitative multiplex PCR of short fluorescent fragments (QMPSF) was used to screen the BRCA ...[more]