Results 71 to 80 of about 60,203 (254)

Investigation of telomere maintenance in BRCA2 defective mammalian cell lines [PDF]

, 2014
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityBRCA2 is a highly penetrant breast cancer predisposing gene.
Gozaly Chianea, Yaghoub
core  

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

PALB2 (partner and localizer of BRCA2) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018
PALB2 (Partner and Localizer of BRCA2) was first identified as a BRCA2-interacting protein. Subsequently, PALB2 has been recognized as a cog in the cellular machinery for DNA repair by homologous recombination (HR). PALB2 also mediates S and G2 DNA damage checkpoints, and has an apparent function in protecting transcriptionally active genes from ...
Hanenberg, Helmut, Andreassen, Paul R
openaire   +3 more sources

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

, 2007
Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical significance.
dos Santos Silva, Isabel, Gibson, Lorna, Webb, Emily, Gabrielle Sellick, Lorna Gibson, Houlston, Richard, Nichola Johnson, Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Claire Palles, Sean V. Tavtigian, Agnes Fraser, Rudd, Matthew, Ashworth, Alan, Isabel Dos Santos Silva, Palles, Claire, McCormack, Valerie, Tavtigian, Sean V, Leonard, Angela, Alan Ashworth, Valerie Mccormack, Gilham, Clare, Emily Webb, Richard Houlston, Sellick, Gabrielle, Olivia Fletcher, Matthew Rudd, Angela Leonard, Clare Gilham, Fraser, Agnes, Julian Peto   +31 more
core   +1 more source

Inherited mutations impair responses to environmental carcinogens: Cancer prevention in mutation carriers [PDF]

, 2011
Some environmental carcinogens may be responsible for a modest increase in the numbers of cancers after years of exposure. Economic or political factors weigh against widespread bans of carcinogens.
Bernard Friedenson, Bernard Friedenson
core   +1 more source

Replication gap suppression depends on the double-strand DNA binding activity of BRCA2 [PDF]

, 2023
Replication stress (RS) is a major source of genomic instability and is intrinsic to cancer cells. RS is also the consequence of chemotherapeutic drugs for treating cancer.
Chaaban, Rady, Carreira, Aura, Lebdy, Rana, Domoulin, Isaac, Gómez Escudero, Jesús, Dumoulin, Isaac, Gómez-Escudero, Jesús, Constantinou, Angelos, Álvaro Aranda, Lucia, Martin, Charlotte, Vugic, Domagoj, Alvaro-Aranda, Lucia, von Nicolai, Catharina, Ribeyre, Cyril, Carreira, Aurora, Boucherit, Virginie, Minello, Anna   +16 more
core   +1 more source

Frequency of BRCA1/2 mutations and the immunological profile of triple-negative breast cancer in young women: a systematic review

Известия высших учебных заведений. Поволжский регион: Медицинские науки
Triple-negative breast cancer (TNBC) in women ≤40 years old is characterized by aggressive behavior, a high frequency of BRCA mutations, and limited therapeutic options. The purpose of this study was to systematically review data on BRCA1/2 mutations and
Marija G. Fedorova, Ekaterina V. Komarova, Seiranat A. Gadzhibaeva, Irina M. Meshcherikova   +3 more
doaj   +1 more source

BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report

Case Reports in Oncology, 2023
A 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone ...
Keisuke Okubo, Shintaro Narita, Atsushi Koizumi, Yoshiko Takahashi, Ryuichiro Sagehashi, Kanami Mori, Ryuta Sobu, Hiromi Sato, Soki Kashima, Mizuki Kobayashi, Ryohei Yamamoto, Taketoshi Nara, Kazuyuki Numakura, Mitsuru Saito, Hiroshi Nanjyo, Tomonori Habuchi   +15 more
doaj   +1 more source

Tumor Infiltrating Lymphocyte Therapy Combined With PD‐1/LAG‐3 Inhibition in Patients With Recurrent Platinum‐Resistant Ovarian Cancer

International Journal of Cancer, EarlyView.
The detection of tumor‐infiltrating lymphocytes (TILs) is a positive prognostic factor in ovarian cancer. Moreover, TILs are significantly boosted by immunotherapy, though ovarian cancer patients have seen limited benefit from immune therapies. This study investigated the safety and feasibility of TIL therapy combined with PD‐1 and LAG‐3 inhibitors in ...
Tine J. Monberg, Cathrine L. Lorentzen, Marie C. W. Westergaard, Trine Z. Iversen, Troels H. Borch, Marco Donia, Sigrid M. Mannering, Stine E. W. Banke, Özcan Met, Inge Marie Svane   +9 more
wiley   +1 more source

Interaction between Arabidopsis Brca2 and its partners Rad51, Dmc1, and Dss1 [PDF]

, 2006
*This article is free to read on the publisher's website*\ud \ud The Arabidopsis (Arabidopsis thaliana) orthologs of Brca2, a protein whose mutations are involved in breast cancer in humans, were previously shown to be essential at meiosis. In an attempt
N. Siaud, M.-P. Doutriaux, Siaud, Nicolas, E. Dubois, Doutriaux, Marie-Pascale, Dubois, Emeline, E. Dray, Dray, Eloise   +7 more
core   +1 more source