High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

2010 ◽  
Vol 78 (4) ◽  
pp. 364-372 ◽  
Author(s):  
NV Bogdanova ◽  
NN Antonenkova ◽  
YI Rogov ◽  
JH Karstens ◽  
P Hillemanns ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Founder Mutations ◽  
Allele Specific

scholarly journals High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

2009 ◽  
Vol 7 (1) ◽  
Author(s):  
Evgeny N Suspitsin ◽  
Nathalia Yu Sherina ◽  
Daria N Ponomariova ◽  
Anna P Sokolenko ◽  
Aglaya G Iyevleva ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Founder Mutations

scholarly journals A MOLECULAR-BASED APPROACH TO INVESTIGATE BREAST CANCER 1 AND BREAST CANCER 2 STATUS IN OVARIAN CANCER AMONG IRAQI WOMEN

2018 ◽  
Vol 11 (7) ◽  
pp. 199
Author(s):  
Muhannad Shweash ◽  
Saddam Jumaa Naseer ◽  
Maisam Khider Al-anii ◽  
Thulfiqar Fawwaz Mutar
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Mutations ◽  
Healthy Controls ◽  
Brca1 And Brca2 ◽  
First Degree Relatives ◽  
Brca Gene ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.

scholarly journals The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

2019 ◽  
Vol 144 (11) ◽  
pp. 2683-2694 ◽  
Author(s):  
Stephanie Schubert ◽  
Jana L. Luttikhuizen ◽  
Bernd Auber ◽  
Gunnar Schmidt ◽  
Winfried Hofmann ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
High Frequency ◽  
Pathogenic Variants

Online biomarker validation of survival-associated biomarkers in breast and ovarian cancer using microarray data of 3,862 patients.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 10571-10571
Author(s):  
Balazs Gyorffy ◽  
Andras Lanczky ◽  
Zoltan Szallasi
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Microarray Data ◽  
Cancer Prognosis ◽  
Analysis Tool ◽  
Breast And Ovarian Cancer ◽  
Kaplan Meier ◽  
Biomarker Validation ◽  
Prognostic Power

10571 Background: The pre-clinical validation of prognostic gene candidates in large independent patient cohorts is a pre-requisite for the development of robust biomarkers. Today, curated microarray cohorts combined with appropriate clinical data offer a cost effective tool to prescreen potential new biomarkers. In present study we expanded our online Kaplan-Meier plotter tool to assess the effect of genes on ovarian cancer prognosis. Methods: Gene expression data and survival information of breast and ovarian cancer patients were downloaded from GEO and TCGA. To analyze the prognostic value of the selected gene in the various cohorts the patients are divided into two groups according to the quantile expression of the gene. Filtering is implemented for stage, grade, and histology subtypes. Follow-up threshold is implemented to exclude long-term effects. A Kaplan-Meier survival plot is generated and significance is computed in the R statistical environment using Bioconductor packages. The combination of several probe sets can be employed to assess the mean of their expression as a multigene predictor of survival. Results: All together 1,390 ovarian cancer patients and 2,472 breast cancer patients were entered into the database. These groups can be compared using relapse free survival (n=2,324 in breast cancer and 1,090 in ovarian cancer) or overall survival (n=464 and n=1,287). We used this integrative data analysis tool to validate the prognostic power of 37 ovarian cancer associated biomarkers identified in the literature. Of these, CA125 (p=3.7e-5, HR=1.4), CDKN1B (p=5.4e-5, HR=1.4), KLK6 (p=0.002, HR=0.79), IFNG (p=0.004, HR=0.81), P16 (p=0.02, HR=0.66) and BIRC5 (p=0.00017, HR=0.75) were associated with survival. Conclusions: We set up a global online biomarker validation platform to mine all available microarray data to assess the prognostic power of 22,277 genes in 2,472 breast and 1,390 ovarian cancer patients. Registration-free online access at: http://www.kmplot.com/.

Prevalence and differentiation of hereditary breast and ovarian cancer in Japan.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1534-1534
Author(s):  
Seigo Nakamura ◽  
Takuji Iwase ◽  
Seiichiro Nishimura ◽  
Hideko Yamauchi ◽  
Tadashi Nomizu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Brca1 Mutation ◽  
Information Service ◽  
Breast Cancers ◽  
Founder Mutations ◽  
Mutation Site ◽  
Luminal Type ◽  
The U.S

1534 Background: Breast cancer is the most common female cancer, according to the Center for Cancer Control and Information Service in Japan. However, the lifetime breast cancer risk in Japan is markedly lower (one in 16) than in the U.S. or Europe. We assembled needed data on the prevalence and characteristics of BRCA1/2 in Japan. Methods: Our study of BRCA 1 and 2 (BRCA1/2) collected data at 8 institutions in Japan on 320 individuals with a strong family history of breast cancer, according to the NCCN guidelines, by the end of March, 2012. Results: Among 260 proband cases, 46 (17.7%) were positive for BRCA1 and 35 (13.5%) were BRCA2 positive. Therefore, the total pathological mutation rate was 30.7%. Pathology data after breast surgery were obtained from 35 cases of BRCA1 mutation, 22 (62.9%) of which were triple negative and 10 (29.4%) were Luminal type. On the other hand, 24 cases (85.7%) of BRCA2 mutations were Luminal type. The most prevalent BRCA1 mutation site was L63X, found in 10 families. L63X was reported previously by studies in Japan, and it may be a founder mutation. We found 2 cases of large deletion detected by MLPA, comprising the first two reported cases in Japan. One was an entire deletion of exon 20 and the lacked exons 1-9. Eight cases of BRCA1 (3.1%) and 12 (4.6%) BRCA2 were uncertain variants. TN with a family history ovarian cancer were 14/20 (70%), TN under 40 y/o 17/23 (73.9%) and TN with one or more breast cancers in family history 19/32 (59.4%) showed higher incidences of BRCA1/2, especially BRCA1. Conclusions: HBOC may have nearly the same prevalence in Japan as in the U.S. or Europe. If TN cases are taken into account, the ratio of BRCA1 is higher. L63X may be one of the founder mutations in Japan. A nationwide database of HBOC is important to address these challenges: (1) To develop risk models for BRCA1/2 carriers in Japan (2) To identify the proper methods to detect cancer occurrence among Japanese BRCA1/2 carrier early (3) To differentiate whether uncertain mutation variants found in Japan are deleterious.

Association of Met-BDNF allele with pre-existing peripheral neuropathy in breast cancer patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e21702-e21702
Author(s):  
David Azoulay ◽  
Anca Leibovici ◽  
Rivka Sharoni ◽  
Hadassah Goldberg
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Peripheral Neuropathy ◽  
Cancer Patients ◽  
Sanger Sequencing ◽  
Treatment Protocol ◽  
Breast Cancer Patients ◽  
Allelic Discrimination ◽  
Extended Study

e21702 Background: We previously published preliminary results suggesting an association between the met-BDNF allele and vulnerability to paclitaxel-induced peripheral neuropathy (PIPN) in breast cancer patients. Here we present updated data obtained from our extended study. Methods: 35 patients; 34 women (33 with breast cancer and 1 with ovarian cancer) and one man (breast cancer) completed their follow-up. Peripheral neuropathy (PN) was assessed at diagnosis and along the treatment protocol, using the reduced version of Total Neuropathy Score (TNSr). Patients with TNSr≥2 at diagnosis were determined with pre-existing PN (Pre-PN). Allelic discrimination of BDNF polymorphism (rs6265) was determined by Sanger sequencing. Results: BDNF genotype Val/Val was found in 20 patients (57.14%), Val/Met in 15 patients (42.86%). No patient had the Met/Met genotype. 10 patients (28.57%) were diagnosed with Pre-PN, 3 of them with diabetic-related neuropathy. A higher incidences of the Met-BDNF allele was found in patients with Pre-PN as compared to patients with no Pre-PN (7/10 (70%) vs. 8/25 (32%) Val/Met in Pre-PN and no Pre-PN respectively, prob > ChiSq < 0.05). The three patients with diabetic related Pre-PN were genotyped Met-BDNF. The maximal TNSr scores developed by each patient during follow-up were higher in Met-BDNF patients compare to Val/Val patients. (Maximal TNSr mean ± SEM in Val/Val 4.80±0.62 vs. 7.73±1.34 in Val/Met BDNF, prob < t 0.04). No difference in the maximal TNSr scores between Met-BDNF and Val/Val patients were shown after excluding the patients with Pre-PN (Maximal TNSr mean ± SEM in Val/Val 5.05±0.78 vs. 5.25±0.62 in Val/Met BDNF, prob < t 0.44). Conclusions: Our data demonstrate an association between met-BDNF and Pre-PN. Higher maximal TNSr scores in our met-BDNF patients is generally the consequence of their higher Pre-PN.

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