Results 51 to 60 of about 115,309 (309)

A Founder Mutation of the BRCA1‐Gene in Western Sweden [PDF]

Disease Markers, 1999
AIM: To study the geographical distribution of the families with the founder mutation nt3166ins5 in the BRCA1 gene. To describe the phenotype and confirm mutational status also in deceased cases. METHOD: In the cancer counselling clinic of western Sweden (pop. 1.6 mill) about 204 families have been investigated since May 1995.
Einbeigi, Zakaria, Kindblom, Jeane, Kindblom, Lars-Gunnar, Martinsson, Tommy, Suurkula, Mart, Wahlström, Jan, Wallgren, Arne, Karlsson, Per   +7 more
openaire   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.

PLoS ONE, 2020
Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone.
Weston R Bodily, Brian H Shirts, Tom Walsh, Suleyman Gulsuner, Mary-Claire King, Alyssa Parker, Moom Roosan, Stephen R Piccolo   +7 more
doaj   +2 more sources

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

PLoS ONE, 2013
Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%.
Alexandra V Stavropoulou, Florentia Fostira, Maroulio Pertesi, Marianthi Tsitlaidou, Gerassimos E Voutsinas, Olga Triantafyllidou, Aristotelis Bamias, Meletios A Dimopoulos, Eleni Timotheadou, Dimitrios Pectasides, Christos Christodoulou, George Klouvas, Christos Papadimitriou, Thomas Makatsoris, George Pentheroudakis, Gerasimos Aravantinos, Vassilis Karydakis, Drakoulis Yannoukakos, George Fountzilas, Irene Konstantopoulou   +19 more
doaj   +1 more source

The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer

Oncology and Therapy, 2023
Background Deleterious germline mutations in BRCA1 and BRCA2 genes are associated with a high risk of breast and ovarian cancer. In many developing countries, including Egypt, the prevalence of BRCA1/2 mutations among women with breast cancer (BC) is ...
Hamdy A. Azim, Samah A. Loutfy, Hatem A. Azim, Nermin S. Kamal, Nasra F. Abdel Fattah, Mostafa H. Elberry, Mohamed R. Abdelaziz, Marwa Abdelsalam, Madonna Aziz, Kyrillus S. Shohdy, Loay Kassem   +10 more
doaj   +1 more source

RT-PCR Analysis of TOPBP1 Gene Expression in Hereditary Breast Cancer [PDF]

, 2010
Hereditary predisposition to breast cancer determined in large part by loss of function mutations in one of two genes BRCA1 and BRCA2. Besides BRCA1 and BRCA2 other genes are also likely to be involved in hereditary predisposition to breast cancer ...
Bernaciak, Magdalena, Bryś, Magdalena, Forma, Ewa, Romanowicz-Makowska, Hanna   +3 more
core   +2 more sources

Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors. [PDF]

, 2020
Autophagy, particularly with BECN1, has paradoxically been highlighted as tumor promoting in Ras-driven cancers, but potentially tumor suppressing in breast and ovarian cancers.
Axelrod, Joshua, Bapat, Jaidev, Delaney, Joe R, DeStefano, John W, Haghighiabyaneh, Mina, Harismendy, Olivier, Jones, Christian M, La Spada, Albert R, Ortell, Katherine K, Patel, Chandni B, Ramos-Zapatero, Maria, Schlaepfer, David D, Stupack, Dwayne G, Tancioni, Isabelle, Tanios, Ralph   +14 more
core   +1 more source

Establishment of a humanized patient‐derived xenograft mouse model of high‐grade serous ovarian cancer for preclinical evaluation of combination immunotherapy

Molecular Oncology, EarlyView.
We have established a humanized orthotopic patient‐derived xenograft (Hu‐oPDX) mouse model of high‐grade serous ovarian cancer (HGSOC) that recapitulates human tumor–immune interactions. Using combined anti‐PD‐L1/anti‐CD73 immunotherapy, we demonstrate the model's improved biological relevance and enhanced translational value for preclinical ...
Luka Tandaric, Line Bjørge, Martine Rott Lode, Cecilie Fredvik Torkildsen, Pia Aehnlich, Rammah Elnour, Daniela Elena Costea, Lars Andreas Akslen, Liv Cecilie Vestrheim Thomsen, Emmet McCormack, Katrin Kleinmanns   +10 more
wiley   +1 more source

Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of double-germline mutant gastric cancer

Journal of International Medical Research, 2020
Breast cancer gene 1 and 2 ( BRCA1 and BRCA2 ) are human tumor suppressor genes. BRCA mutations increase the risk for breast, ovarian, and gastric cancer.
Lu Wen, Xiuxiu Li, Junping Shi, Shuo Zhang, Rui Wang, Ming Yao, Jun Guo   +6 more
doaj   +1 more source

The PARP-1 inhibitor Olaparib causes retention of γ-H2AX foci in BRCA1 heterozygote cells following exposure to gamma radiation [PDF]

, 2013
This article is made available through the Brunel Open Access Publishing Fund. Copyright © 2013 Emma C. Bourton et al. This is an open access article distributed under the Creative Commons Attribution Li-cense, which permits unrestricted use ...
Adam Zahir, S, Bourton, EC, Harvey, AJ, Parris, CN, Plowman, PN   +4 more
core   +1 more source