نتایج جستجو برای: brca mutation

تعداد نتایج: 292614  

Journal: :Cancer research 1998
S Gretarsdottir S Thorlacius R Valgardsdottir S Gudlaugsdottir S Sigurdsson M Steinarsdottir J G Jonasson K Anamthawat-Jonsson J E Eyfjörd

The products of the BRCA breast cancer susceptibility genes have been implicated in cell cycle control and DNA repair. It has been suggested that mutations in the p53 gene are a necessary step in tumorigenesis in BRCA tumors. We tested samples from 402 breast cancer patients for germ-line BRCA2 and p53 mutations in tumors. p53 mutations are more frequent in BRCA2 mutation carriers than they are...

Journal: :Human mutation 2016
Christophe Béroud Stanley I Letovsky Corey D Braastad Sandrine M Caputo Olivia Beaudoux Yves Jean Bignon Brigitte Bressac-De Paillerets Myriam Bronner Crystal M Buell Gwenaëlle Collod-Béroud Florence Coulet Nicolas Derive Christina Divincenzo Christopher D Elzinga Céline Garrec Claude Houdayer Izabela Karbassi Sarab Lizard Angela Love Danièle Muller Narasimhan Nagan Camille R Nery Ghadi Rai Françoise Revillion David Salgado Nicolas Sévenet Olga Sinilnikova Hagay Sobol Dominique Stoppa-Lyonnet Christine Toulas Edwin Trautman Dominique Vaur Paul Vilquin Katelyn S Weymouth Alecia Willis Marcia Eisenberg Charles M Strom

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical ...

2012
Sophia H.L. George Anca Milea Patricia A. Shaw

Purpose:Women who have inherited germline mutations of BRCA1/BRCA2 are at increased risk of developing high-grade serous carcinoma, and many of these cancers arise in the distal fimbriated end of the fallopian tube. We have previously shown that the fallopian tube epithelia of BRCA1 mutation carriers (FTE-BRCA) have altered signaling pathways compared to nonmutation carriers. In this study, we ...

Journal: :Annals of oncology : official journal of the European Society for Medical Oncology 2009
J Fasano F Muggia

To date, the presence of a hereditary background has not influenced the selection of drug treatment in breast cancer. However, increasingly, negative hormone receptors and Her2 (often referred to as 'triple negative') or a medullary carcinoma histology has been reported in BRCA mutation carriers. Accordingly, such patients are often considered for adjuvant protocols based on chemotherapy (and n...

Journal: :The Surgical clinics of North America 2008
Ismail Jatoi William F Anderson

The management of women who have a genetic predisposition for breast cancer requires careful planning. Women who have BRCA 1 and BRCA 2 mutations are at increased risk for breast cancer and for other cancers as well, particularly ovarian cancer. Screening, prophlyactic surgery, and chemoprevention are commonly utilized strategies in the management of these patients, and women may choose more th...

2014
Qian Zhong Hong-Ling Peng Xia Zhao Lin Zhang Wei-Ting Hwang

Purpose: To estimate the effects of BRCA1 and BRCA2 mutations on ovarian cancer and breast cancer survival. Experimental Design: We searched PubMed and EMBASE for studies that evaluated the associations between BRCAmutations and ovarian or breast cancer survival. Meta-analysis was conducted to generate combined HRs with 95% confidence intervals (CI) for overall survival (OS) and progression-fre...

2017
LE Dockery CC Gunderson KN Moore

Rucaparib camsylate (CO-338, AG-014699, PF-01367338) is a potent PARP-1, PARP-2, and PARP-3 inhibitor. Phase I and II studies demonstrated clinical efficacy in both BRCA-mutated (inclusive of germline and somatic) ovarian tumors and ovarian tumors with homologous recombination deficiency (HRD) loss of heterozygosity (LOH). Rucaparib has received the US Food and Drug Administration (FDA) approva...

2004
S-W Kim C S Lee J V Fey P I Borgen J Boyd

E pidemiological data suggest that 7% of breast cancer cases and 10% of ovarian cancer cases in the general population are attributable to one or more autosomal dominant susceptibility alleles. The breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 were isolated in 1994 and 1995, 4 respectively, and since then, a large volume of literature attests to the involvement of these genes i...

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