2 research outputs found
Complete sequencing of TP53 predicts poor response to systemic therapy of advanced breast cancer
TP53 has been implicated in regulation of the cell cycle, DNA repair, and
apoptosis. We studied, in primary breast tumors through direct cDNA
sequencing of exons 2-11, whether TP53 gene mutations can predict response
in patients with advanced disease to either first-line tamoxifen therapy
(202 patients, of whom 55% responded) or up-front (poly)chemotherapy (41
patients, of whom 46% responded). TP53 mutations were detected in 90 of
243 (37%) tumors, and one-fourth of these mutations resulted in a
premature termination of the protein. The mutations were observed in 32%
(65 of 202) of the primary tumors of tamoxifen-treated patients and in 61%
(25 of 41) of the primary tumors of the chemotherapy patients. TP53
mutation was significantly associated with a poor response to tamoxifen
[31% versu
Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group
Presymptomatic DNA testing for autosomal dominant hereditary
breast/ovarian cancer (HBOC) became an option after the identification of
the BRCA1 and BRCA2 genes in 1994-1995. Healthy female mutation carriers
have a high lifetime risk for breast cancer (56-87%) or ovarian cancer
(10-60%) and may opt for intensive breast and ovary surveillance or
prophylactic surgery (mastectomy/oophorectomy).We studied general and
cancer related distress in 85 healthy women with a 25% or 50% risk of
being carrier of a BRCA1/BRCA2 gene mutation and 66 partners in the six to
eight wee