BRCA mutation
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study
... Other limitations of this study included restricting the main cohort to patients aged 40 years or younger at the time of diagnosis to enrich for BRCA mutation carriers. It is possible that observations in ...
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Impact of Germline BRCA Mutation Status on Survival in Women with Metastatic Triple Negative Breast Cancer
... Kelsey E. Larson, Yen Y. Wang, Karissa Finke, Rachel Yoder, Kelsey Schwensen, Anne P. O’Dea, Qamar Khan, Lauren Nye, Jaimie Heldstab, Andrew K. Godwin, Bruce F. Kimler, Priyanka Sharma. Impact of Germline BRCA ...
6
BRCA mutation screening and patterns among high-risk Lebanese subjects
... The Lebanese population has limited access to clinical genetics specialists and information regarding genetic testing is usually delivered by other health-care profes- sionals such as oncologists [4]. The Manchester ...
7
The added value of mammography in different age groups of women with and without BRCA mutation screened with breast MRI
... in BRCA mutation carriers ...BRCA1 mutation carriers. In these BRCA1 mutation carriers, the mammographic sen- sitivity is exceedingly low, reported as low as 35% ...as BRCA ...
12
Group medical visits in the follow-up of women with a BRCA mutation: design of a randomized controlled trial
... Seven BRCA mutation carriers participated in a GMC in our pilot study. The overall patient satisfaction with the GMC was quite promising with an average score of 3.7 (sd = 1.1) on a range of 1-5. More than ...
8
Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis
... Our findings along with the potential advantages dis- cussed make a good case for changing the current prac- tice of genetic testing in favor of preoperative genetic testing at breast cancer diagnosis. However, there are ...
8
Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review
... FP should be done before any treatments that may affect fertility as early as possible [88]. To begin with, early re- ferral for FP allows women with BRCA mutation a wider choice since OTC requires a long ...
13
The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans
... A BRCA mutation was defined as a mutation in either the BRCA1 gene or BRCA2 gene, which are tumor suppressor genes involved in various pathways, including cell-cycle propagation, DNA repair, and ...
5
BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer
... 13 BRCA mutation carriers detected by sequencing and MLPA (alternative ...of mutation carriers will be missed when testing only for known founder mutations in a ...
9
BRCA Mutation: A Review of Breast Cancer
... a BRCA mutation, then pre-implantation genetic diagnosis is sometimes used to prevent the birth of a child with BRCA ...BRCA1 mutation and one BRCA2 mutation have been reported ...
9
Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing
... for BRCA 1 mutations 30 breast/ ovar- ian cancer patients with strong or moderate family history and premenopausal age at onset of the disease ...that BRCA 1 mutations may account for as much as 20 % of ...
7
The first Japanese nationwide multicenter study of BRCA mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to Ovarian cancer geneTic TEsting of BRCA (CHARLOTTE)
... Details of the sample size calculation are given in online supple- mentary text 1, supplemental digital content 2. Descriptive statis- tics were used for baseline demographic and clinical characteris- tics, with n (%) ...
7
BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis
... between BRCA mutations and survival in patients with ...respectively. BRCA mutations were associated with worse OS (BRCA1: HR = ...BRCA1 mutation and treated with ...for BRCA mutation ...
15
Management of the asymptomatic <em>BRCA</em> mutation carrier
... The optimal management approach for early detection and can- cer prevention in the asymptomatic BRCA carrier continues to evolve. This review presents the guidelines and data supporting the development of a ...
11
Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel
... that BRCA mutations also occur in sporadic carcinomas and these tumors respond to Poly (ADP-ri- bose) polymerase- (PARP) ...somatic BRCA mutations as a biomarker for the prediction of therapeutic response ...
7
The integration of BRCA testing into oncology clinics.
... pilot BRCA gene testing, the current practice at the Royal Marsden is for the test to be offered to ovarian cancer patients of any age and with all non- mucinous ...germline BRCA testing of patients with ...
12
BRCA promoter methylation in sporadic versus BRCA germline mutation related breast cancers
... germline mutation-related breast cancer resection specimens (BRCA1/2-C) were derived from the pathology archives at the University Medical Center Utrecht, University Medical Center Groningen, VU University Medical ...
13
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies
... Patients, clinical assessment, and germline genetic testing Patients for this study were selected based on an HBOC cancer phenotype in the absence of a known familial BRCA mutation found in a first-degree ...
10
Empowering genes or a fearful disease: a critical evaluation of ascribing Empowerment to BRCA tests
... the BRCA gene and had their ...their BRCA status. This fast reaction to the BRCA mutation diagnosis may raise some questions about timeframe in which the BRCA carrier gain information ...
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Knowledge, Attitudes, and Utilization of BRCA Testing Among Obstetricians and Gynecologists
... a BRCA mutation ...a mutation in one of these three founder mutation sites ...a BRCA mutation, 90% of the time it would be one of these three founder ...familial mutation ...
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