Results 221 to 230 of about 50,723 (266)

Pitfalls and Caveats in BRCA Sequencing

Ultrastructural Pathology, 2006
Between 5 and 10% of breast cancer cases are considered to result from hereditary predisposition. Germ-line mutations in BRCA1 and BRCA2 are responsible for an inherited predisposition of breast and ovarian cancer. Direct nucleotide sequencing is considered the gold standard technique for mutation detection for genes such as BRCA1 and BRCA2.
Beatriz, Bellosillo, Ignacio, Tusquets
openaire   +2 more sources

Fertility in BRCA mutation carriers: counseling BRCA-mutated patients on reproductive issues

Hormone Molecular Biology and Clinical Investigation, 2020
Abstract Objectives Genetic testing rates for hereditary breast and ovarian cancer (HBOC) have steadily increased during the past decades resulting in a growing population of young and healthy mutation carriers.
Laura Knabben, Franziska Siegenthaler, Sara Imboden, Michael D. Mueller   +3 more
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BRCA Breakthrough

Science of Aging Knowledge Environment, 2002
Cracking a stubborn mystery, a new study pins down the function of BRCA2, the DNA-repair protein that goes awry in many cases of breast cancer. The mammoth molecule holds onto a cracked DNA strand while a protein partner fixes the damage. The findings promise to illuminate how flaws in BRCA2 provoke cancer. Mutations in
openaire   +1 more source

When the BRCA test is negative—Prevention strategies in women who have no detectable mutation (BRCA-) compared to women harboring positive BRCA mutations (BRCA+)

Journal of Clinical Oncology, 2008
1534 Background: Much attention has been focused on screening and risk reduction, including prophylactic mastectomy (PM) or oophorectomy (PO) in BRCA+ mutation carriers (Rebbeck 1999, Eisen 2005, Kauff 2007). In families with a known BRCA mutation (BRCA+) or a history of hereditary breast cancer (BC) or ovarian cancer (OC), relatives in whom a mutation
S. Verma, S. F. Dent, L. Paquet, L. Bitonti   +3 more
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The Fanconi anaemia/BRCA pathway

Nature Reviews Cancer, 2003
Fanconi anaemia (FA) is a rare genetic cancer-susceptibility syndrome that is characterized by congenital abnormalities, bone-marrow failure and cellular sensitivity to DNA crosslinking agents. Seven FA-associated genes have recently been cloned, and their products were found to interact with well-known DNA-damage-response proteins, including BRCA1 ...
Alan D, D'Andrea, Markus, Grompe
openaire   +2 more sources

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability

Familial Cancer, 2014
We have designed the user-friendly COS software with the intent to improve estimation of the probability of a family carrying a deleterious BRCA gene mutation. The COS software is similar to the widely-used Bayesian-based BRCAPRO software, but it incorporates improved assumptions on cancer incidence in women with and without a deleterious mutation ...
Jacopo, Berrino, Franco, Berrino, Silvia, Francisci, Bernard, Peissel, Jacopo, Azzollini, Valeria, Pensotti, Paolo, Radice, Patrizia, Pasanisi, Siranoush, Manoukian   +8 more
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RNA based analysis of BRCA and BRCA gene alterations

2006
Alterations in BRCA1 and BRCA2 genes account for a large proportion of hereditary breast and ovarian cancers. Mutations and variants of unknown pathological significance have been identified in both genes; however, most of them have been studied only at the genomic level, and their effect on mRNA expression remains unknown.
BONATTI F, PEPE C, TANCREDI M, LOMBARDI G, ARETINI A, SENSI E, FALASCHI E, CIPOLLINI G, BEVILACQUA, GENEROSO, CALIGO MA   +9 more
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BRCA Screening

Obstetrics & Gynecology, 2008
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OncotypeDX© Recurrence Score in BRCA mutation carriers: a systematic review and meta-analysis

European Journal of Cancer, 2021
Matthew G Davey, Vinitha Richard, Aoife J Lowery   +2 more
exaly  

Methylome profiling of BRCA-positive and BRCA-negative MBCs

European Journal of Cancer, 2016
RIZZOLO, PIERA, SILVESTRI, VALENTINA, LICURSI, Valerio, NAVAZIO, ANNA SARA, VALENTINI, VIRGINIA, zelli, veronica, Bianchi, S., Palli, D., Fox, S., OTTINI, LAURA   +9 more
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