Results 141 to 150 of about 143,588 (347)

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

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Journal of the National Cancer Institute, 2017
Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of
Karoline B. Kuchenbaecker, L. McGuffog, Daniel Barrowdale, Andrew Lee, P. Soucy, S. Healey, J. Dennis, M. Lush, M. Robson, A. Spurdle, S. Ramus, N. Mavaddat, M. Terry, S. Neuhausen, U. Hamann, M. Southey, E. John, W. Chung, M. Daly, S. Buys, D. Goldgar, C. M. Dorfling, E. J. van Rensburg, Y. Ding, B. Ejlertsen, A. Gerdes, T. Hansen, S. Slager, Emily J. Hallberg, J. Benítez, A. Osorio, N. Cohen, W. Lawler, J. Weitzel, P. Peterlongo, V. Pensotti, R. Dolcetti, M. Barile, B. Bonanni, J. Azzollini, S. Manoukian, B. Peissel, P. Radice, A. Savarese, L. Papi, G. Giannini, F. Fostira, I. Konstantopoulou, J. Adlard, C. Brewer, J. Cook, R. Davidson, D. Eccles, R. Eeles, Steve Ellis, D. Frost, S. Hodgson, L. Izatt, F. Lalloo, K. Ong, A. Godwin, N. Arnold, B. Dworniczak, C. Engel, A. Gehrig, E. Hahnen, J. Hauke, K. Kast, A. Meindl, D. Niederacher, R. Schmutzler, R. Varon‐Mateeva, S. Wang-gohrke, B. Wappenschmidt, L. Barjhoux, M. Collonge-Rame, Camille Elan, L. Golmard, E. Barouk-Simonet, F. Lesueur, S. Mazoyer, Johanna Sokolowska, D. Stoppa-Lyonnet, C. Isaacs, K. Claes, B. Poppe, M. de la Hoya, V. García-Barberán, K. Aittomäki, H. Nevanlinna, M. Ausems, J. D. de Lange, E. G. Gómez Garcia, F. Hogervorst, C. Kets, H. Meijers-Heijboer, J. Oosterwijk, M. Rookus, C. V. van Asperen, A. V. D. van den Ouweland, H. V. van Doorn, T. V. van Os, A. Kwong, E. Oláh, O. Díez, J. Brunet, C. Lázaro, A. Teule, J. Gronwald, A. Jakubowska, Katarzyna Kaczmarek, J. Lubiński, G. Sukiennicki, R. Barkardottir, J. Chiquette, S. Agata, M. Montagna, M. Teixeira, Sue-Kyung Park, Curtis L. Olswold, M. Tischkowitz, L. Foretova, Pragna Gaddam, J. Vijai, G. Pfeiler, C. Rappaport-Fuerhauser, C. Singer, M. Tea, M. Greene, J. Loud, G. Rennert, E. Imyanitov, P. Hulick, J. Hays, M. Piedmonte, G. Rodriguez, J. Martyn, G. Glendon, A. Mulligan, I. Andrulis, A. Toland, U. Jensen, T. Kruse, I. Pedersen, M. Thomassen, M. Caligo, S. Teo, R. Berger, E. Friedman, Y. Laitman, B. Arver, Å. Borg, H. Ehrencrona, Johanna Rantala, O. Olopade, P. Ganz, R. Nussbaum, A. Bradbury, S. Domchek, K. Nathanson, B. Arun, P. James, B. Karlan, J. Lester, J. Simard, P. Pharoah, K. Offit, F. Couch, G. Chenevix-Trench, D. Easton, A. Antoniou   +170 more
semanticscholar   +1 more source

Association Between Germline BRCA1/2 Gene Variants and Clinicopathological Features of Ovarian Cancer

International Journal of General Medicine
Yu Luo,1,2 Ru Pan,1,2 Hui Rao,2,3 Xing Chen,4 Haikun Yang1,2 1Department of Gynaecology, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republic of China; 2Meizhou Municipal Engineering and Technology Research Center ...
Luo Y, Pan R, Rao H, Chen X, Yang H
doaj  

BRCA1 and BRCA2 mutations in Scotland and Northern Ireland [PDF]

, 2003
BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast
The Scottish/Northern Irish BRCA1/BRCA2 Consortium
core  

MUC1 as a Survival Effector of Radiotherapy‐Induced Epithelial Hybrid States in Basal‐Like Breast Cancer

International Journal of Cancer, EarlyView.
Basal‐like breast cancer (BLBC) is aggressive and often exhibits inherent or acquired resistance to radiotherapy (RT), a primary treatment option. RT resistance is underpinned by molecular alterations, many of which are poorly understood. Here, RT‐induced transcriptomic changes were analyzed using bulk and spatial sequencing in a BLBC mouse model and ...
Garyfallia Pantelaiou‐Prokaki, Husam Bamahmoud, Nadine S. Georges, Shaishavi Jansari, Annika Jung, Daniela Grimm, Evangelos Prokakis, Fabian Alexander Gayer, Maryam Deldar, Christian Dullin, Julia Gallwas, Florian Wegwitz, Frauke Alves   +12 more
wiley   +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

Preventing hereditary cancers caused by opportunistic carcinogens

, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +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

Genetic screening of FFPE breast cancer biopsies for the BRCA1-185delAG mutation in Trinidad and Tobago

Revista Panamericana de Salud Pública
Objective. To investigate whether the quality and quantity of genomic DNA harnessed from existing formalin-fixed paraffin-embedded (FFPE) breast cancer biopsy tissue samples in the public health system of Trinidad and Tobago (T&T) were sufficient for ...
Sheherazade Crystal Abrahim, Dulari Bansraj, Royanne Edwards, Reinand Thompson, Roma Rambaran, Allana Roach, Wayne A. Warner, A. V. Chalapathi Rao, Chandrashekar Unakal, Rajini Rani Haraksingh   +9 more
doaj   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core