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Tytuł:
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Autorzy:
Öfverholm A; Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden.
Törngren T; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Rosén A; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Arver B; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Einbeigi Z; Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden.; Department of Medicine and Oncology, Southern Älvsborg Hospital, Borås, Sweden.
Haraldsson K; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Ståhlbom AK; Hereditary Cancer Unit, Karolinska University Hospital Solna, Stockholm, Sweden.
Kuchinskaya E; Department of Clinical Pathology and Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Melin B; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University Hospital, Uppsala, Sweden.
Stenmark-Askmalm M; Department of Clinical Pathology and Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden.; Department of Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
von Wachenfeldt A; Department of Clinical Science and Education at Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.; Department of Oncology, Södersjukhuset, Stockholm, Sweden.
Kvist A; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Borg Å; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Ehrencrona H; Department of Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden. .; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden. .
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Źródło:
BMC cancer [BMC Cancer] 2023 Aug 10; Vol. 23 (1), pp. 738. Date of Electronic Publication: 2023 Aug 10.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/diagnosis
Breast Neoplasms*/genetics
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
Triple Negative Breast Neoplasms*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*/diagnosis
Hereditary Breast and Ovarian Cancer Syndrome*/genetics
Humans ; Female ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Protein Serine-Threonine Kinases/genetics ; Germ-Line Mutation
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hereditary breast and ovarian cancer triggered by occult fallopian tube cancer: a case report.
Autorzy:
Murakami H; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
Fujiwara S; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan. .
Nishie R; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
Ueda S; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
Terada S; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
Yamada T; Department of Pathology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
Ohmichi M; Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Aug 18; Vol. 17 (1), pp. 351. Date of Electronic Publication: 2023 Aug 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Fallopian Tube Neoplasms*/diagnosis
Fallopian Tube Neoplasms*/surgery
Hereditary Breast and Ovarian Cancer Syndrome*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
Female ; Pregnancy ; Humans ; Aged ; Breast ; Fallopian Tubes/surgery
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.
Autorzy:
Kotnik U; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia. .; Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia. .
Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Lovrecic L; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
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Źródło:
Scientific reports [Sci Rep] 2023 Mar 31; Vol. 13 (1), pp. 5307. Date of Electronic Publication: 2023 Mar 31.
Typ publikacji:
Journal Article
MeSH Terms:
Hereditary Breast and Ovarian Cancer Syndrome*/genetics
Ovarian Neoplasms*/genetics
Genital Neoplasms, Female*/genetics
Breast Neoplasms*/genetics
Humans ; Female ; Genetic Predisposition to Disease ; Genes, BRCA1 ; Oncogenes ; Germ-Line Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Autorzy:
Adam F; Medical Faculty of the University of Bern, Bern, Switzerland.
Fluri M; Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Scherz A; Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Rabaglio M; Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Jan 16; Vol. 16 (1), pp. 7. Date of Electronic Publication: 2023 Jan 16.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*/genetics
Breast Neoplasms*/genetics
Ovarian Neoplasms*/genetics
Humans ; Female ; Retrospective Studies ; Clinical Relevance ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Observational Studies as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines.
Autorzy:
Kotnik U; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia. .; Biotechnical Faculty, University of Ljubljana, Jamnikarjeva 101, 1000, Ljubljana, Slovenia. .
Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia.
Lovrecic L; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia.
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Źródło:
BMC cancer [BMC Cancer] 2021 Jun 03; Vol. 21 (1), pp. 665. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Practice Guidelines as Topic*
Early Detection of Cancer/*standards
Genetic Counseling/*standards
Genetic Testing/*standards
Hereditary Breast and Ovarian Cancer Syndrome/*epidemiology
Referral and Consultation/*standards
Adolescent ; Adult ; Early Detection of Cancer/statistics & numerical data ; Female ; Genetic Counseling/statistics & numerical data ; Genetic Predisposition to Disease ; Genetic Testing/statistics & numerical data ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Middle Aged ; Prevalence ; Prospective Studies ; Referral and Consultation/statistics & numerical data ; Risk Assessment/methods ; Risk Assessment/standards ; Risk Assessment/statistics & numerical data ; Slovenia/epidemiology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
Autorzy:
Kim JH; Department of Surgery, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Gyeonggi, Republic of Korea.
Park S; Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Republic of Korea.
Park HS; Department of Surgery, Yonsei University College of Medicine, 50-1 Yonseiro, Seodaemun-gu, Seoul, 03722, Republic of Korea. .
Park JS; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, 50-1 Yonseiro, Seodaemun-gu, Seoul, 03722, Republic of Korea. .
Lee ST; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Kim SW; Department of Surgery, Daerim St. Mary's Hospital, Seoul, Republic of Korea.
Lee JW; Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Lee MH; Department of Surgery, Soonchunhyang University Seoul Hospital, Seoul, Republic of Korea.
Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.
Noh WC; Department of Surgery, Korea Institute of Radiological & Medical Science, Korea Cancer Center Hospital, Seoul, Republic of Korea.
Choi DH; Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University, Seoul, Republic of Korea.
Han W; Department of Surgery, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Jung SH; Department of Surgery, Chonbuk National University Hospital, Jeonju, Jeollabuk, Republic of Korea.
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Źródło:
Scientific reports [Sci Rep] 2021 Apr 19; Vol. 11 (1), pp. 8485. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*pathology
Genetic Testing/*methods
Hereditary Breast and Ovarian Cancer Syndrome/*pathology
Adult ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Prospective Studies ; Republic of Korea/epidemiology
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Molecular Features and Clinical Management of Hereditary Gynecological Cancers.
Autorzy:
Ueki A; Center for Medical Genetics, Keio Cancer Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Hirasawa A; Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Dec 14; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Breast Neoplasms/*metabolism
Breast Neoplasms/*pathology
Colorectal Neoplasms, Hereditary Nonpolyposis/*metabolism
Colorectal Neoplasms, Hereditary Nonpolyposis/*pathology
Hereditary Breast and Ovarian Cancer Syndrome/*pathology
Breast Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/metabolism ; High-Throughput Nucleotide Sequencing ; Humans
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel BRCA2 splice variant identified in a young woman.
Autorzy:
Nicolussi A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
Belardinilli F; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Ottini L; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Petroni M; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Capalbo C; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Giannini G; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.; Istituto Pasteur-Fondazione Cenci Bolognetti, Roma, Italy.
Coppa A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Dec; Vol. 8 (12), pp. e1513. Date of Electronic Publication: 2020 Nov 07.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
RNA Splice Sites*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Conserved Sequence ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Loss of Heterozygosity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
Autorzy:
Wang J; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
Qin J; Department of Medical Affairs, Annoroad Gene Technology Co. Ltd, Beijing, China.
Xi C; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
Zhang Y; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1411. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Loss of Function Mutation*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Prostatic Neoplasms/*genetics
BRCA2 Protein/metabolism ; Codon, Nonsense ; Consanguinity ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Male ; Pedigree ; Prostatic Neoplasms/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Paraneoplastic dermatomyositis in hereditary breast and ovarian cancer syndrome.
Autorzy:
Kumar N; Surgical Oncology, IRCH, All India Institute of Medical Sciences, New Delhi, India.
Deo S; Surgical Oncology, All India Institute of Medical Sciences, New Delhi, India.
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Źródło:
The breast journal [Breast J] 2020 Sep; Vol. 26 (9), pp. 1836-1837. Date of Electronic Publication: 2020 May 18.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/genetics
Dermatomyositis*
Hereditary Breast and Ovarian Cancer Syndrome*
Ovarian Neoplasms*/genetics
Female ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
Autorzy:
van Luttikhuizen JL; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Bublitz J; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schubert S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Hofmann W; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Morlot S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Buurman R; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Steinemann D; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1045. Date of Electronic Publication: 2019 Nov 13.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Duplication*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Chromosome Breakpoints ; Female ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; High-Throughput Nucleotide Sequencing ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
"It wasn't just for me": Motivations and implications of genetic testing for women at a low risk of hereditary breast and ovarian cancer syndrome.
Autorzy:
Gill G; Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
Beard C; Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.
Storey K; Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.
Taylor S; Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.
Sexton A; Parkville Familial Cancer Centre and Genomic Medicine Department, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.
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Źródło:
Psycho-oncology [Psychooncology] 2020 Aug; Vol. 29 (8), pp. 1303-1311. Date of Electronic Publication: 2020 Jul 09.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms/*psychology
Genetic Testing/*statistics & numerical data
Hereditary Breast and Ovarian Cancer Syndrome/*psychology
Patient Acceptance of Health Care/*psychology
Adult ; Australia ; BRCA1 Protein ; Female ; Genetic Predisposition to Disease/prevention & control ; Genetic Predisposition to Disease/psychology ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Humans ; Middle Aged ; Motivation ; Risk Assessment
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An immune-centric exploration of BRCA1 and BRCA2 germline mutation related breast and ovarian cancers.
Autorzy:
Przybytkowski E; Department of Computer Science and Engineering, University of Connecticut, Institute of System Genomics, Boston, MA, USA.
Davis T; Department of Computer Science and Engineering, University of Connecticut, Institute of System Genomics, Boston, MA, USA.
Hosny A; Department of Computer Science and Engineering, University of Connecticut, Institute of System Genomics, Boston, MA, USA.
Eismann J; Dana-Farber Cancer Institute, Boston, MA, USA.
Matulonis UA; Dana-Farber Cancer Institute, Boston, MA, USA.
Wulf GM; Beth Israel Deaconess Medical Center, Department of Hematology/Oncology, Harvard Medical School, Boston, MA, USA.
Nabavi S; Department of Computer Science and Engineering, University of Connecticut, Institute of System Genomics, Boston, MA, USA. .
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Źródło:
BMC cancer [BMC Cancer] 2020 Mar 12; Vol. 20 (1), pp. 197. Date of Electronic Publication: 2020 Mar 12.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Cystadenocarcinoma, Serous/*genetics
Gene Expression Profiling/*methods
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Ovarian Neoplasms/*genetics
Triple Negative Breast Neoplasms/*genetics
Cystadenocarcinoma, Serous/pathology ; Data Mining ; Female ; Genomic Instability ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Homologous Recombination ; Humans ; Ovarian Neoplasms/pathology ; Sequence Analysis, RNA ; Triple Negative Breast Neoplasms/pathology ; Tumor Microenvironment ; Whole Genome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Autorzy:
Jarhelle E; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway. .; Department of Clinical Medicine, University of Tromsø, Tromsø, Norway. .; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway. .
Riise Stensland HMF; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Hansen GÅM; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Skarsfjord S; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
Jonsrud C; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Ingebrigtsen M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
Strømsvik N; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Health and Caring Sciences, Western Norway University of Applied Sciences, Bergen, Norway.
Van Ghelue M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway. .; Department of Clinical Medicine, University of Tromsø, Tromsø, Norway. .; Northern Norway Family Cancer Center, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway. .
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Źródło:
Scientific reports [Sci Rep] 2019 Dec 27; Vol. 9 (1), pp. 19986. Date of Electronic Publication: 2019 Dec 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Germ-Line Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; Alleles ; Amino Acid Substitution ; Biomarkers, Tumor ; Female ; Genetic Association Studies ; Genotype ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Humans ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
Autorzy:
Wang X; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Liu H; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Maimaitiaili A; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Zhao G; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Li S; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Lv Z; Cancer Center of the First Hospital of Jilin University, The First Hospital of Jilin University, Changchun, China.
Wu D; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Shi A; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Guan X; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Jia H; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Li M; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Song D; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Kang L; Cancer Center of the First Hospital of Jilin University, The First Hospital of Jilin University, Changchun, China.
Han B; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Fu T; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Yang M; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Zhu Z; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Du Y; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Song Y; Cancer Center of the First Hospital of Jilin University, The First Hospital of Jilin University, Changchun, China.
Hong J; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
Fan Z; Department of Breast Surgery, The First Hospital of Jilin University, Changchun, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jun; Vol. 7 (6), pp. e677. Date of Electronic Publication: 2019 Apr 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Triple Negative Breast Neoplasms/*genetics
Adult ; Aged ; China ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Humans ; Middle Aged ; Prevalence ; Triple Negative Breast Neoplasms/epidemiology
Czasopismo naukowe
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Tytuł:
Factors associated with intentions for breast cancer risk management: Does risk group matter?
Autorzy:
Conley CC; Department of Psychology, The Ohio State University, Columbus, Ohio.; Health Outcomes and Behavior Program, H. Lee Moffitt Cancer Center, Tampa, Florida.
Agnese DM; Department of Surgical Oncology, The Ohio State University, Columbus, Ohio.
Vadaparampil ST; Health Outcomes and Behavior Program, H. Lee Moffitt Cancer Center, Tampa, Florida.
Andersen BL; Department of Psychology, The Ohio State University, Columbus, Ohio.
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Źródło:
Psycho-oncology [Psychooncology] 2019 May; Vol. 28 (5), pp. 1119-1126. Date of Electronic Publication: 2019 Apr 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chemoprevention*
Intention*
Mastectomy*
Prophylactic Surgical Procedures*
Risk Reduction Behavior*
Salpingo-oophorectomy*
Breast Neoplasms/*prevention & control
Hereditary Breast and Ovarian Cancer Syndrome/*prevention & control
Adult ; Aged ; Alcohol Drinking ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/surgery ; Diet Therapy ; Exercise ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/surgery ; Humans ; Middle Aged ; Ovarian Neoplasms/prevention & control ; Risk Factors ; Self Efficacy ; Young Adult
Czasopismo naukowe
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Tytuł:
A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes.
Autorzy:
Martínez-Treviño DA; Center of Molecular Diagnostics and Personalized Medicine, Department of Basic Sciences, Division of Health Sciences, University of Monterrey, San Pedro Garza Garcia, Nuevo Leon 66238, Mexico.
León-Cachón RBR; Center of Molecular Diagnostics and Personalized Medicine, Department of Basic Sciences, Division of Health Sciences, University of Monterrey, San Pedro Garza Garcia, Nuevo Leon 66238, Mexico.
Villarreal-Garza C; Breast Cancer Center, Monterrey Institute of Technology and Higher Education, Monterrey, Nuevo Leon 64710, Mexico.
Aguilar Y Méndez D; Breast Cancer Center, Monterrey Institute of Technology and Higher Education, Monterrey, Nuevo Leon 64710, Mexico.
Aguilar-Martínez E; Faculty of Biology, Medicine and Health, University of Manchester, M13 9PT Manchester, UK.
Barrera-Saldaña HA; TecSalud, Monterrey Institute of Technology and Higher Education, Monterrey, Nuevo Leon 64710, Mexico.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2018 Aug; Vol. 18 (2), pp. 1531-1537. Date of Electronic Publication: 2018 Jun 06.
Typ publikacji:
Journal Article
MeSH Terms:
Base Sequence*
Sequence Deletion*
BRCA1 Protein/*genetics
DNA Probes/*chemical synthesis
Hereditary Breast and Ovarian Cancer Syndrome/*diagnosis
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Real-Time Polymerase Chain Reaction/*methods
Adult ; BRCA1 Protein/deficiency ; Exons ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/metabolism ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Introns ; Mexico ; Middle Aged ; Mutation Rate ; Sensitivity and Specificity
Czasopismo naukowe
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Tytuł:
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Autorzy:
Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Groß E; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Gehrig A; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.
Honisch E; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.
Hackmann K; Institute for Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany.
Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Arnold N; Department of Gynaecology and Obstetrics, Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany.
Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Smogavec M; Institute of Human Genetics, University Medical Center, Georg August University, Goettingen, Germany.
Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
Weber-Lassalle N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Weber-Lassalle K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Borde J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Ernst C; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Hübbel V; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Keupp K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Versmold B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Pohl E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Grill S; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Paul V; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Herold N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Lichey N; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Ditsch N; Department of Obstetrics and Gynaecology, Ludwig-Maximilians-University of Munich, Munich, Germany.
Ruckert C; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Rump A; Institute for Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany.
Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.
Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.
Ramser J; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Dworniczak B; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Meindl A; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Hahnen E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
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Źródło:
Cancer medicine [Cancer Med] 2018 Apr; Vol. 7 (4), pp. 1349-1358. Date of Electronic Publication: 2018 Mar 09.
Typ publikacji:
Journal Article
MeSH Terms:
Biomarkers, Tumor*
Genes, BRCA1*
Genes, BRCA2*
Hereditary Breast and Ovarian Cancer Syndrome/*diagnosis
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetic Variation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Humans ; Middle Aged ; Odds Ratio ; Prevalence ; Young Adult
Czasopismo naukowe
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