Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

Autor: Rinat Bernstein-Molho, Eitan Friedman, Noa Ben Baruch, Orit Reish, Rakefet Chen-Shtoyerman, Shani Paluch-Shimon, Yael Laitman, D. Gareth Evans, Ephrat Levy-Lahad, Inbal Kedar, Sara Haim, Yael Goldberg, Rachel Michaelson-Cohen

Publikováno v: Laitman, Y, Michaelson-cohen, R, Chen-shtoyerman, R, Goldberg, Y, Reish, O, Bernstein-molho, R, Levy-lahad, E, Baruch, N E B, Kedar, I, Evans, D G, Haim, S, Paluch-shimon, S & Friedman, E 2020, ' Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors ', Familial Cancer . https://doi.org/10.1007/s10689-020-00216-y

Germline pathogenic sequence variants (PSVs) in BRCA1 substantially increase risk for developing breast (BC) and ovarian cancer (OvC). Yet, incomplete penetrance suggests that modifier factors affect phenotypic expression of mutant BRCA1 alleles. Ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518ee821778730679b9b2d69568cdf28
https://doi.org/10.1007/s10689-020-00216-y

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel

Autor: Hagit Schayek, Sara Haim, Rinat Bernstein-Molho, Eitan Friedman, Orit Reish, Jamal Zidan, Shira Lotan, Yael Laitman

Publikováno v: Breast Cancer Research and Treatment. 167:697-702

Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. A few recurring mutations in these genes were reported in ethnically diverse Jewish populations. Since 2013, most oncogenetic laboratories in Is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71af5d06a7360e03a782c80eb4d74c57
https://doi.org/10.1007/s10549-017-4551-7