Roxane Pichette

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BACKGROUND AND OBJECTIVE In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a(More)
The discovery of deleterious mutations in the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, has facilitated the identification of individuals at particularly high risk of these diseases. There is a wide variation between populations in the prevalence and related risks of various types of BRCA1/2 mutations, so estimates cannot be(More)
Cowden syndrome is a disease associated with an increase in breast cancer susceptibility. Alleles in PTEN and other breast cancer susceptibility genes would be responsible for ∼25% of the familial component of breast cancer risk, BRCA1 and BRCA2 being the two major genes responsible for this inherited risk. In order to evaluate the proportion of high-risk(More)
Our current understanding of breast cancer susceptibility involves mutations in the 2 major genes BRCA1 and BRCA2, found in about 25% of high-risk families, as well as few other low penetrance genes such as ATM and CHEK2. Approximately two-thirds of the multiple cases families remain to be explained by mutations in still unknown genes. In a candidate gene(More)
Delayed hemolytic transfusion reactions due to anti-U are rare, only two (2) cases having been reported in the literature. We now report a third case: a multiparous black woman without any transfusion history was admitted to hospital for severe microlytic anemia (31 g/l). The patient was group AB negative, the direct antiglobulin test was negative and an(More)
From January 1983 to January 1985, we have found a deletion of the long arm of chromosome 5 (5q-) in the bone marrow cells of 8 patients; they represent consecutive patients referred to our institution for investigation and treatment of the following hematological disorders in whom the 5q- abnormality was found: acute nonlymphocytic leukemia (ANLL) (3),(More)
Ataxia telangiectasia-mutated and Rad3-related (ATR) is a member of the PIK-related family which plays, along with ATM, a central role in cell-cycle regulation. ATR has been shown to phosphorylate several tumor suppressors like BRCA1, CHEK1 and TP53. ATR appears as a good candidate breast cancer susceptibility gene and the current study was designed to(More)
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