Results 11 to 20 of about 49,034 (223)

BRCA Share: A Collection of Clinical BRCA Gene Variants. [PDF]

Human mutation, 2016
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer.
Béroud, Christophe, Letovsky, Stanley I, Braastad, Corey D, Caputo, Sandrine M, Beaudoux, Olivia, Bignon, Yves Jean, Bressac-de Paillerets, Brigitte, Bronner, Myriam, Buell, Crystal M, Collod-Beroud, Gwenaelle, Coulet, Florence, Derive, Nicolas, Divincenzo, Christina, Elzinga, Christopher D, Garrec, Céline, Houdayer, Claude, Karbassi, Izabela, Lizard, Sarab, Love, Angela, Muller, Danièle, Nagan, Narasimhan, Nery, Camille R, Rai, Ghadi, Révillion, Françoise, Salgado, David, Sevenet, Nicolas, Sinilnikova, Olga, Sobol, Hagay, Stoppa-Lyonnet, Dominique, Toulas, Christine, Trautman, Edwin, Vaur, Dominique, Vilquin, Paul, Weymouth, Katelyn S, Willis, Alecia, Eisenberg, Marcia, Strom, Charles M   +36 more
openaire   +5 more sources

BRCA mutations and reproduction [PDF]

Fertility and Sterility, 2018
Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis.
Hagit, Daum, Tamar, Peretz, Neri, Laufer
openaire   +2 more sources

DNA-Damage-Induced Type I Interferon Promotes Senescence and Inhibits Stem Cell Function

Cell Reports, 2015
Expression of type I interferons (IFNs) can be induced by DNA-damaging agents, but the mechanisms and significance of this regulation are not completely understood. We found that the transcription factor IRF3, activated in an ATM-IKKα/β-dependent manner,
Qiujing Yu, Yuliya V. Katlinskaya, Christopher J. Carbone, Bin Zhao, Kanstantsin V. Katlinski, Hui Zheng, Manti Guha, Ning Li, Qijun Chen, Ting Yang, Christopher J. Lengner, Roger A. Greenberg, F. Brad Johnson, Serge Y. Fuchs   +13 more
doaj   +1 more source

Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers

The Application of Clinical Genetics, 2021
Lindsey McAlarnen, Kristen Stearns, Denise Uyar Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USACorrespondence: Denise UyarDivision of Gynecologic Oncology, Department of ...
McAlarnen L, Stearns K, Uyar D
doaj  

Efficacy and safety of PARP inhibitors for maintenance treatment of ovarian cancer, regardless of BRCA or HRD status: a comprehensive updated meta-analysis

Journal of Obstetrics and Gynaecology, 2023
Without taking into account existing biomarkers like genetic mutations (BRCA mutation, Homologous recombination deficiency) with advanced ovarian cancer (OC), the overall survival (OS), progress-free survival (PFS) of the aggregate all groups that have ...
Yanhui Li
doaj   +1 more source

İnvaziv Duktal Meme Kanserli Genç Olgularda MR Bulgularının, BRCA Mutasyon ve İmmünohistokimyasal Sonuçları ile Korelasyonu.

Sakarya Tıp Dergisi, 2019
Amaçİnvaziv duktal karsinomalı 40 yaş altı hastalarda; prognozla ilişkisi belirlenen ve tedavi seçiminde rol oynayan immünohistokimyasal değerlendirme ve BRCA mutasyonları ile manyetik rezonans görüntülemede IDEAL ve DISCO sekanslarda elde edilen sinyal ...
Kıyasettin Asil, Havva Belma Koçer, Yasemin Anıl Eyüboğlu Tanrıverdi, Mine Urfalı, Furkan Ertürk Urfalı   +4 more
doaj   +1 more source

Molecular genetic markers of breast cancer: current advances in understanding the etiology, prognostic value, and therapeutic opportunities

Акушерство, гинекология и репродукция, 2020
Introduction. Breast cancer (BC) is the most common oncology pathology that holds a leading place among the causes of cancer death. Early diagnosis is critically important for successful treatment.
M. M. Omarov, V. V. Trusova, L. M. Agabekyan, I. R. Gaziev, Z. M. Alibekova, L. A. Aivazyan, E. A. Safarova, A. M. Adzhigulova, A. A. Darmilova, E. K. Khanmukhometova, I. R. Vanova, V. I. Pigareva   +11 more
doaj   +1 more source

Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study

European Journal of Breast Health, 2021
Objective:This study aimed to determine the differences in clinicopathological features of Turkish patients with high-risk breast cancer based on the mutation status of two breast cancer susceptibility genes (BRCA1/2) .Materials and Methods:This study ...
Muhammed Mustafa Atcı, Çağlayan Geredeli, Seval Ay, Abdullah Sakin, Biray Ertürk, Şaban Seçmeler, Serdar Arıcı, Ruhper Çekin, Nurgül Yaşar, Orçun Can, Şener Cihan, Mahmut Gümüş   +11 more
doaj   +1 more source

Olaparib maintenance therapy after frontline chemotherapy in patients with BRCA-mutated ovarian cancer: real-world results in expanded access program

Медицинский совет, 2022
Introduction. Olaparib is the only PARP inhibitor approved in Russia for the maintenance therapy for BRCA-positive ovarian cancer after frontline chemotherapy. We conducted a real-world analysis of olaparib efficacy and safety for this indication.Aim. To
A. A. Rumyantsev, A. S. Tyulyandina, I. A. Pokataev, E. R. Israelyan, M. Е. Abramov, H. N. Lud, S. A. Tyulyandin   +6 more
doaj   +1 more source

A Clinical Trial to Increase the Identification, Genetic Counseling Referral and Genetic Testing of Women at risk for Hereditary Breast and/or Ovarian Cancer

Journal of the Georgia Public Health Association, 2017
Background: Approximately 1/300 individuals in the general population are at risk for hereditary breast and ovarian cancer due to an inherited mutation in the BRCA1/BRCA2 genes.
Ceceilia Bellcross, Christine Stanislaw, April Hermstad, Christine Tallo, Chelsea Leonard   +4 more
doaj   +1 more source