Zobrazeno 1 - 10 of 25 pro vyhledávání: '"Revital Bruchim"'
2
Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant
Autor: Revital Bruchim, Shiri Shkedi-Rafid, Rinat Bernstein-Molho, Iris Barshack, Eitan Friedman, Chana Vinkler, Camila Avivi, Drakoulis Yannoukakos, Yael Laitman, Gabriel Arie Lidzbarsky, Florentia Fostira, Noam Shomron, Merav Akiva Ben David, Lily Bazak, Yael Goldberg, Malak Darawshe, Lina Basel Salmon
Publikováno v: Human Mutation. 42:592-599
BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1-TPDS) associated with an increased lifetime risk for developing primarily pleural and peritoneal mesothelioma and uveal and cutaneous melanoma. Ov
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd9986c771fee90a3007e9399ad9e91
https://doi.org/10.1002/humu.24189
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4
Search for inherited susceptibility to radiation-associated meningioma by genomewide SNP linkage disequilibrium mapping
Autor: Jayaram Vijayakrishnan, Fay J. Hosking, Richard S. Houlston, Siegal Sadetzki, D. Feldman, Revital Bruchim, Bianca Olver, Amy Lloyd, Pazit Flint-Richter, Peter Broderick
Publikováno v: British Journal of Cancer
BACKGROUND: Exposure to ionising radiation is a well-established risk factor for multiple types of tumours, including malignant brain tumours. In the 1950s, radiotherapy was used to treat Tinea Capitis (TC) in thousands of children, mostly of North-A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0123cb2ff2eedf61ee62c182de9174f
http://europepmc.org/articles/PMC3065289
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5
The Tyr978X BRCA1 Mutation in Non-Ashkenazi Jews: Occurrence in High-Risk Families, General Population and Unselected Ovarian Cancer Patients
Autor: Galit Ichezkel-Hirsch, Baruch Modan, Revital Bruchim Bar-Sade, Angela Chetrit, Eitan Friedman, Ruth Gershoni-Baruch, Walter H. Gotlieb, Ronit Shiri-Sverdlov, Shulamith Rizel
Publikováno v: Public Health Genomics. 4:50-55
Background: In Jewish individuals of Ashkenazi (East European) decent, three predominant mutations, 185 delAG and 5382insC (BRCA1) and 6174delT (BRCA2), seem to account for a substantial portion of germline mutations in high-risk breast/ovarian cance
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::263051a5269adc71ccd9494a0e02763d
https://doi.org/10.1159/000051156
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6
Genetic Analyses of Male Breast Cancer in Israel
Autor: Arie Figer, Meora Feinmesser, Ronit Shiri Sverdlov, Eitan Friedman, Ruth Gershoni Baruch, Iris Barshack, Galit Hirsh-Yehezkel, Ephrat Dagan, Revital Bruchim Bar Sade
Publikováno v: Genetic Testing. 4:313-317
Male breast cancer is a rare disorder, and little is known about the molecular mechanisms associated with the tumorigenic process. We genotyped 31 Jewish Israeli males with breast cancer for the predominant Jewish BRCA1 (185delAG, 5382InsC) and BRCA2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a028850ae9bc933d314804afa42483b
https://doi.org/10.1089/10906570050501579
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7
Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer
Autor: Revital Bruchim Bar Sade, Limor Green, Samario Haitchick, Eitan Friedman, Peter J. Oefner, Anna Kruglikova, Efrat Dagan, Robert M.W. Hofstra, Rizel S, Ruth Gershoni Baruch, Inge M. Mulder, Ronit Shiri-Sverdlov, Ziad Abdeen, Boleslaw Goldman, Moshe Z. Papa, Teresa Wagner
Publikováno v: Human Mutation. 16:491-501
In Ashkenazi (East European) Jews, three predominant mutations in BRCA1 (185delAG and 5382insC) and BRCA2 (6174-delT) account for the majority of germline mutations in high risk breast and/or ovarian cancer families. Among non-Ashkenazi Jews, the 185
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac53abe60e951e9b3e7f301f7f30d6f7
https://doi.org/10.1002/1098-1004(200012)16:6<491::aid-humu6>3.0.co
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8
Rates of Jewish Ancestral Mutations in BRCAI and BRCA2 in Borderline Ovarian Tumors
Autor: Eitan Friedman, Juri Kopolovic, Ilya Novikov, Walter H. Gotlieb, Galit Hirsh-Yechezkel, Anna Kruglikova, Baruch Modan, Moshe Inbar, Ben Davidson, Gilad Ben-Baruch, Revital Bruchim Bar-Sade
Publikováno v: JNCI Journal of the National Cancer Institute. 90:995-1000
Background: Germline mutations in the BRCA1 and BRCA2 genes are known to be associated with an increased risk of breast and epithelial ovarian cancers. Two specific mutations, 185delAG-BRCA1 and 6174delT-BRCA2, have been detected in a substantial pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ee4cdcca4d9091097900186e4af4af19
https://doi.org/10.1093/jnci/90.13.995
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9
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim
Autor: Galit Hirsh-Yechezkel, Ruth Gershoni-Baruch, Revital Bruchim Bar-Sade, Eva Gak, Livia Theodor, Shulamit Risel, Moshe Z. Papa, Eitan Friedman, Baruch Modan, Gilad Ben-Baruch, Anna Kruglikova, Ilya Novikov
Publikováno v: Human Molecular Genetics. 7:801-805
The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population. All tested Ashkenazi mutation carriers share the same allelic pattern at the BRCA1 locus. Our previous study showed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::704cfd72bf26455e47a2c81454c0dcbe
https://doi.org/10.1093/hmg/7.5.801
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