High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability

S. Veschi; G. Aceto; A. P. Scioletti; V. Gatta; G. Palka; A. Cama; R. Mariani-Costantini; P. Battista; V. Calò; F. Barbera; V. Bazan; A. Russo; L. Stuppia

doi:10.1093/annonc/mdm233

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability

S. Veschi, G. Aceto, A. P. Scioletti, V. Gatta, G. Palka, A. Cama, R. Mariani-Costantini, P. Battista, V. Calò, F. Barbera, V. Bazan, A. Russo, L. Stuppia

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Research output: Contribution to journal › Article › peer-review

Abstract

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Probands were classified as BRCAPro positive (n = 67) when the carrier probability (CP) was >10% and as BRCAPro negative (n = 110), when the CP was 50%.

Original language	English
Journal	Annals of Oncology
Volume	18
Issue number	SUPPL. 6
DOIs	https://doi.org/10.1093/annonc/mdm233
Publication status	Published - Jun 2007

Keywords

BRCA1
BRCA2
BRCAPro
Breast cancer
MLPA
Ovarian cancer

ASJC Scopus subject areas

Oncology
Hematology
Cancer Research

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High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. / Veschi, S.; Aceto, G.; Scioletti, A. P.; Gatta, V.; Palka, G.; Cama, A.; Mariani-Costantini, R.; Battista, P.; Calò, V.; Barbera, F.; Bazan, V.; Russo, A.; Stuppia, L.

In: Annals of Oncology, Vol. 18, No. SUPPL. 6, 06.2007.

Research output: Contribution to journal › Article › peer-review

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abstract = "Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Probands were classified as BRCAPro positive (n = 67) when the carrier probability (CP) was >10% and as BRCAPro negative (n = 110), when the CP was 50%.",

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AU - Aceto, G.

AU - Scioletti, A. P.

AU - Gatta, V.

AU - Palka, G.

AU - Cama, A.

AU - Mariani-Costantini, R.

AU - Battista, P.

AU - Calò, V.

AU - Barbera, F.

AU - Bazan, V.

AU - Russo, A.

AU - Stuppia, L.

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