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4 results on '"BRCA2 protein, human"'

1. Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients

Author

Ismet Tasdelen, Ufuk Unal, Gamze Guney Eskiler, Erdem Cubukcu, Sibel Kahraman Çetintaş, Mustafa Sehsuvar Gokgoz, Havva Tezcan, Gulsah Cecener, Secil Ak Aksoy, Berrin Tunca, Maryam Sabour Takanlou, Unal Egeli, Turkkan Evrensel, Leila Sabour Takanlou, Isil Ezgi Eryilmaz, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Onkoloji Anabilim Dalı., Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyasyon Onkolojisi Anabilim Dalı., Çeçener, Gülşah, Takanlou, Leila Sabour, Takanlou, Maryam Sabour, Egeli, Ünal, Aksoy, Seçil, Ünal, Ufuk, Tezcan, Havva, Eryılmaz, Işıl Ezgi, Gökgöz, Mustafa Şehsuvar, Tunca, Berrin, Çubukçu, Erdem, Evrensel, Türkkan, Çetintaş, Sibel, Taşdelen, İsmet, GGI-6227-2022, EAS-6830-2022, GYU-0252-2022, EWY-5692-2022, ETP-1691-2022, EOI-5652-2022, and EBN-1186-2022

Subjects
Male, Oncology, Kaplan Meier method, Turkey, endocrine system diseases, Epidemiology, DNA Mutational Analysis, Gene mutation, Germline, Heteroduplex analysis, Human epidermal growth factor receptor 2 positive breast cancer, Breast cancer, 0302 clinical medicine, Pathology, Tumor suppressor gene, Disease free survival, skin and connective tissue diseases, 030220 oncology & carcinogenesis, Cohort analysis, Breast carcinoma, Human, medicine.medical_specialty, Ovarian-cancer, Major clinical study, Article, Disease-Free Survival, Cancer grading, 03 medical and health sciences, Genetic screening, Genetics, Pathogenicity, Humans, Women, Vairants, Molecular Biology, Genetic predisposition, Follow up, BRCA1, medicine.disease, BRCA2, Gene frequency, BRCA2 protein, human, Mutation, Sanger sequencing, Cancer Research, Kaplan-Meier Estimate, Associations, Turkey (republic), Turkey (bird), Germline mutation, Pathogenic mutations, Prevalence, Tumor volume, Overall survival, Triple negative breast cancer, Breast, Family history, Priority journal, BRCA1 Protein, Genetics & heredity, Tumor characteristics, Middle Aged, Mutation (genetic algorithm), symbols, Female, Variant of uncertain significance, Genetic trait, Risk, Adult, Heterozygote, BRCA1 Gene, Breast Neoplasms, Germline Mutation, Ovary cancer, Luminal B breast cancer, Breast tumor, Biology, Breast Neoplasms, Male, symbols.namesake, Luminal A breast cancer, Internal medicine, medicine, Genetic Predisposition to Disease, Mortality, Germline mutations, Popoulation, Germ-Line Mutation, BRCA1 protein, human, BRCA2 Protein, Clinical feature, Genetic association, Physical-activity, Genetic variability, Ovarian cancer, Controlled study, Follow-Up Studies
Abstract

The aim of this study was to identify the frequency and spectrum of germline BRCA1/2 pathogenic alterations in a cohort of patients with breast carcinoma. In this study, a total of 603 breast cancer subjects from Turkey were screened for BRCA1/BRCA2 mutations using HDA and Sanger sequencing. In the present study, 21 BRCA1 and BRCA2 pathogenic variants were detected in 30 patients and BRCA1/2 mutations were significantly associated with a family history of breast/ovarian cancer. Analysis of overall survival for BRCA1/BRCA2 mutation carriers showed a trend for poor overall survival only in BRCA1 carriers, although this was not statistically significant in BRCA1 and BRCA2 mutation carriers. The c.5266dupC mutation is one of the most frequently reported mutations in BRCA1 and was identified in five breast cancer patients in our study. The most common BRCA2 gene mutations in the present study were c.8940delA and c.9097dupA, which were found in seven patients. We found mostly BRCA1 and BRCA2 mutation carriers in those patients who showed hormone-positive features. In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.

Published
2020
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2. Two truncating variants in FANCC and breast cancer risk.

Author

Gaudet M.M., Kaaks R., Kang D., Kwong A., Lambrechts D., Marchand L.L., Li J., Lindstrom S., Linet M., Lo W.-Y., Long J., Lophatananon A., Lubinski J., Manoochehri M., Manoukian S., Margolin S., Martinez E., Matsuo K., Mavroudis D., Meindl A., Menon U., Milne R.L., Mohd Taib N.A., Muir K., Mulligan A.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Offit K., Olopade O.I., Olshan A.F., Olson J.E., Olsson H., Park S.K., Park-Simon T.-W., Peto J., Plaseska-Karanfilska D., Pohl-Rescigno E., Presneau N., Rack B., Radice P., Rashid M.U., Rennert G., Rennert H.S., Romero A., Ruebner M., Saloustros E., Schmidt M.K., Schmutzler R.K., Schneider M.O., Schoemaker M.J., Scott C., Shen C.-Y., Shu X.-O., Simard J., Slager S., Smichkoska S., Southey M.C., Spinelli J.J., Stone J., Surowy H., Swerdlow A.J., Tamimi R.M., Tapper W.J., Teo S.H., Terry M.B., Toland A.E., Tollenaar R.A.E.M., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tsugane S., Untch M., Vachon C.M., Ouweland A.M.W.V.D., Veen E.M.V., Vijai J., Wendt C., Wolk A., Yu J.-C., Zheng W., Ziogas A., Ziv E., Dunning A.M., Pharoah P.D.P., Schindler D., Devilee P., Easton D.F., Hopper J.L., Howell T., Huo D., Ito H., Iwasaki M., Jakubowska A., Janni W., John E.M., Dork T., Peterlongo P., Mannermaa A., Bolla M.K., Wang Q., Dennis J., Ahearn T., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Augustinsson A., Freeman L.E.B., Beckmann M.W., Beeghly-Fadiel A., Behrens S., Bermisheva M., Blomqvist C., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Burwinkel B., Canzian F., Chan T.L., Chang-Claude J., Chanock S.J., Choi J.-Y., Christiansen H., Clarke C.L., Couch F.J., Czene K., Daly M.B., Dos-Santos-Silva I., Dwek M., Eccles D.M., Ekici A.B., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Flyger H., Fritschi L., Gabrielson M., Gago-Dominguez M., Gao C., Gapstur S.M., Garcia-Closas M., Garcia-Saenz J.A., Jung A., Giles G.G., Goldberg M.S., Goldgar D.E., Guenel P., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Hartman M., Hauke J., Hein A., Hillemanns P., Hogervorst F.B.L., Hooning M.J., Kapoor P.M., Khusnutdinova E., Kim S.-W., Kitahara C.M., Koutros S., Kraft P., Kristensen V.N., Gaudet M.M., Kaaks R., Kang D., Kwong A., Lambrechts D., Marchand L.L., Li J., Lindstrom S., Linet M., Lo W.-Y., Long J., Lophatananon A., Lubinski J., Manoochehri M., Manoukian S., Margolin S., Martinez E., Matsuo K., Mavroudis D., Meindl A., Menon U., Milne R.L., Mohd Taib N.A., Muir K., Mulligan A.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Offit K., Olopade O.I., Olshan A.F., Olson J.E., Olsson H., Park S.K., Park-Simon T.-W., Peto J., Plaseska-Karanfilska D., Pohl-Rescigno E., Presneau N., Rack B., Radice P., Rashid M.U., Rennert G., Rennert H.S., Romero A., Ruebner M., Saloustros E., Schmidt M.K., Schmutzler R.K., Schneider M.O., Schoemaker M.J., Scott C., Shen C.-Y., Shu X.-O., Simard J., Slager S., Smichkoska S., Southey M.C., Spinelli J.J., Stone J., Surowy H., Swerdlow A.J., Tamimi R.M., Tapper W.J., Teo S.H., Terry M.B., Toland A.E., Tollenaar R.A.E.M., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tsugane S., Untch M., Vachon C.M., Ouweland A.M.W.V.D., Veen E.M.V., Vijai J., Wendt C., Wolk A., Yu J.-C., Zheng W., Ziogas A., Ziv E., Dunning A.M., Pharoah P.D.P., Schindler D., Devilee P., Easton D.F., Hopper J.L., Howell T., Huo D., Ito H., Iwasaki M., Jakubowska A., Janni W., John E.M., Dork T., Peterlongo P., Mannermaa A., Bolla M.K., Wang Q., Dennis J., Ahearn T., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Augustinsson A., Freeman L.E.B., Beckmann M.W., Beeghly-Fadiel A., Behrens S., Bermisheva M., Blomqvist C., Bogdanova N.V., Bojesen S.E., Brauch H., Brenner H., Burwinkel B., Canzian F., Chan T.L., Chang-Claude J., Chanock S.J., Choi J.-Y., Christiansen H., Clarke C.L., Couch F.J., Czene K., Daly M.B., Dos-Santos-Silva I., Dwek M., Eccles D.M., Ekici A.B., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Flyger H., Fritschi L., Gabrielson M., Gago-Dominguez M., Gao C., Gapstur S.M., Garcia-Closas M., Garcia-Saenz J.A., Jung A., Giles G.G., Goldberg M.S., Goldgar D.E., Guenel P., Haeberle L., Haiman C.A., Hakansson N., Hall P., Hamann U., Hartman M., Hauke J., Hein A., Hillemanns P., Hogervorst F.B.L., Hooning M.J., Kapoor P.M., Khusnutdinova E., Kim S.-W., Kitahara C.M., Koutros S., Kraft P., and Kristensen V.N.

Abstract

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p=0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.

Published
2020

3. Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey

Author

G. Cecener, Güney Eskiler, Gamze, U. Egeli, B. Tunca, A. Alemdar, S. Gokgoz, I. Tasdelen, Cecener, G, Eskiler, GG, Egeli, U, Tunca, B, Alemdar, A, Gokgoz, S, Tasdelen, I, Sakarya Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Bölümü, Güney Eskiler, Gamze, Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., Çeçener, Gülşah, Eskiler, Gamze Güney, Egeli, Ünal, Tunca, Berrin, Alemdar, Adem, Gökgöz, Şehsuvar, Taşdelen, İsmet, AAP-9988-2020, AAB-6011-2022, ABI-6078-2020, HIZ-7332-2022, and AAH-1420-2021

Subjects
0301 basic medicine, Identification, Familial Breast Cancer, Partner and Localizer of BRCA2, Breast Neoplasms, Amino acid substitution, Turkey, Biochemistry & molecular biology, Intron, DNA Mutational Analysis, Penetrance, Early-onset breast cancer, Procedures, Gene, Germline, Turkish population, Heteroduplex analysis, Families, Cancer risk, Exon, Breast cancer, 0302 clinical medicine, Germline mutation, Missense mutation, Tumor suppressor gene, Age of Onset, skin and connective tissue diseases, Genetics, BRCA2 mutations, education.field_of_study, Susceptibility alleles, BRCA1 Protein, Nuclear Proteins, General Medicine, Middle Aged, 030220 oncology & carcinogenesis, Female, PALB2 gene, Fanconi Anemia Complementation Group N Protein, Human, Adult, Mutation rate, PALB2, Population, Nuclear protein, DNA sequence, Breast tumor, Major clinical study, Caucasian, Biology, Polymorphism, Single Nucleotide, Article, White People, Gene product, Young Adult, 03 medical and health sciences, And/or ovarian-cancer, medicine, Humans, Women, Genetic Predisposition to Disease, Germline mutations, education, PALB2 protein, human, Molecular Biology, Oncogene, Genetic Association Studies, Germ-Line Mutation, Truncating mutations, BRCA1 protein, human, Genetic association study, Moderate-penetrance genes, BRCA2 Protein, Genetic predisposition, Tumor Suppressor Proteins, Sequence Analysis, DNA, Mutational analysis, medicine.disease, Tumor suppressor protein, Relatives, BRCA2 protein, human, Single nucleotide polymorphism, Onset age, 030104 developmental biology, Fanconi-anemia, Genetic association, Turk (people), Genetic variability, Controlled study, European continental ancestry group
Abstract

The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer. In total, 223 Turkish patients with BRCA1/BRCA2 negative early-onset breast cancer and 60 unaffected women were included in the study. All the coding exons and intron/exon boundaries of PALB2 were subjected to mutational analysis by heteroduplex analysis (HDA) and DNA sequencing. Eighteen PALB2 variants were found in breast cancer patients within the Turkish population. Three variants (c.271G>A, c.404C>A and c.2981T>A) have not been previously reported. In addition, nine intronic variants were described, and this study is the first to describe the c.1685-44T>A intronic variant. The prevalence of possible pathogenic PALB2 variants was found to be 4.03 % in BRCA1/2-negative Turkish patients with early-onset breast cancer. Different variants of PALB2 have been reported in the literature, and the prevalence of these variants could different for each population. This is the first study to investigate the prevalence of PALB2 variants in Turkish patients with early-onset breast cancer. British Association for Psychopharmacology

Published
2016
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4. BRCA mutations cause reduction in miR-200c expression in triple negative breast cancer

Author

Ismet Tasdelen, Gulsah Cecener, Gulcin Tezcan, Unal Egeli, Berrin Tunca, Elif Erturk, Sahsine Tolunay, Sehsuvar Gokgoz, Uludağ Üniversitesi/Sağlık Meslek Yükseokulu/Tıbbi Laboratuvar Teknikleri Programı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Patoloji Anabilim Dalı., Ertürk, Elif, Çeçener, Gülşah, Tezcan, Gülçin, Egeli, Ünal, Tunca, Berrin, Gökgöz, Şehsuvar, Tolunay, Şahsine, Taşdelen, İsmet, AAK-3371-2021, AAP-9988-2020, AAH-3843-2020, AAH-1420-2021, ABI-6078-2020, EXK-4525-2022, AAI-1612-2021, and EBN-1186-2022

Subjects
Vascular Endothelial Growth Factor A, Mırn200 microrna, human, Resistance, Triple Negative Breast Neoplasms, Bioinformatics, Subclass, Metastasis, Cancer growth, Pathology, Mirnlet7 microRNA, human, Triple negative breast cancer, Disease course, skin and connective tissue diseases, Down-regulation, Triple-negative breast cancer, Zeb1, Gene expression regulation, Genetics & Heredity, Progression, BRCA1 Protein, Circulating Microrna, Stomach Neoplasms, Breast Neoplasms, MicroRNA, General Medicine, Middle Aged, Epithelial-mesenchymal transition, MicroRNA-200c, Gene expression profiling, Gene Expression Regulation, Neoplastic, Vascular endothelial growth factor A, Reverse transcription polymerase chain reaction, Disease Progression, Female, BRCA1/2 gene mutations, Feedback loop, Human, Adult, Clinical article, Tumor invasion, Vasculotropin A, Ovarian-cancer, MiR-200c, Biology, Article, Breast cancer, VEGFA protein, human, microRNA, Genetics, medicine, Humans, Family, Gene mutation, Human tissue, Oncogene, Loss function, BRCA1 protein, human, BRCA2 Protein, Neoplastic, BRCA mutation, medicine.disease, BRCA2 protein, human, Let 7a gene, MicroRNAs, VEGFA gene, Mutation, Cancer research, Controlled study
Abstract

Triple negative breast cancer (TNBC) is the most aggressive and poorly understood subclass of breast cancer (BC). Over the recent years, miRNA expression studies have been providing certain detailed overview that aberrant expression of miRNAs is associated with TNBC. Although TNBC tumors are strongly connected with loss of function of BRCA genes, there is no knowledge about the effect of BRCA mutation status on miRNA expressions in TNBC cases. The aims of this study were to evaluate the expression profile of miRNAs that plays role in TNBC progression and the role of BRCA mutations in their regulation. The expression level of BC associated 13 miRNAs was analyzed in 7 BRCA mutations positive, 6 BRCA mutations negative TNBC cases and 20 non-tumoral tissues using RT-PCR. According to RT2 Profiler PCR Array Data Analysis, let-7a expression was 4.67 fold reduced in TNBCs as compared to normal tissues (P = 0.031). In addition, miR-200c expression was 5.75 fold reduced in BRCA mutation positive TNBC tumors (P = 0.005). Analysis revealed a negative correlation between miR-200c and VEGFA expressions (r = -468). Thus, miR-200c may be involved in invasion and metastasis in TNBC cases with BRCA mutation. In this study we provide the knowledge on the first report of association between microRNA-200c and BRCA mutations in TNBC. Further studies and evaluations are required, but this miRNA may provide novel therapeutic molecular targets for TNBC treatment and new directions for the development of anticancer drugs.

Published
2015
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