Results 21 to 30 of about 1,715,615 (239)

Clinicopathological characteristics of -associated breast cancer in Asian patients [PDF]

Journal of Pathology and Translational Medicine, 2020
BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison
Eun-Kyu Kim, So Yeon Park, Sung-Won Kim
doaj   +1 more source

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry

Scientific Reports, 2022
Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified.
Dewald Eygelaar, Elizabeth J. van Rensburg, Fourie Joubert   +2 more
doaj   +1 more source

Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey

Balkan Journal of Medical Genetics, 2021
Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2.
Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin İ   +7 more
doaj   +1 more source

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

Hereditary Cancer in Clinical Practice, 2022
Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland ...
Andrzej Jasiewicz, Helena Rudnicka, Wojciech Kluźniak, Wojciech Gronwald, Tomasz Kluz, Cezary Cybulski, Anna Jakubowska, Jan Lubiński, Jacek Gronwald   +8 more
doaj   +1 more source

A misquoted mutation in exon16 of the BRCA2 gene [PDF]

Journal of Human Genetics, 2006
A pathogenic mutation in the BRCA2 gene, nt7602del16, has been misquoted as a mutation, possibly due to the incorrect inclusion of the last 16 nucleotides of exon15 of the BRCA2 gene as part of the intron15-exon16 BRCA2 gene sequence in publicly available databases.
Kataki, A., Derventzi, A., Gomatos, I., Konstadoulakis, M.M.   +3 more
openaire   +3 more sources

Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes

Biomédica: revista del Instituto Nacional de Salud, 2021
Introduction: Next Generation Sequencing (NGS) is cost-effective and a faster method to study genes, but its protocol is challenging. Objective: To analyze different adjustments to the protocol for screening the BRCA genes using Ion Torrent PGM ...
Tiago César Gouvêa Moreira, Pricila da Silva Spínola, Micheline Campos Rezende, Carla Simone Moreira de Freitas, Fábio Borges Mury, Cibele Rodrigues Bonvicino, Luciana de Andrade Agostinho   +6 more
doaj   +1 more source

Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA

Frontiers in Oncology, 2022
BRCA1-mutated prostate cancer has been shown to be less responsive to poly (ADP-ribose) polymerase (PARP) inhibitors as compared to BRCA2-mutated prostate cancer. The reason for this differential response is not clear.
Umang Swami, Raquel Mae Zimmerman, Roberto H. Nussenzveig, Edgar Javier Hernandez, Yeonjung Jo, Nicolas Sayegh, Sergiusz Wesolowski, Lesli A. Kiedrowski, Pedro C. Barata, Gordon Howard Lemmon, Mehmet A. Bilen, Elisabeth I. Heath, Lakshminarayan Nandagopal, Hani M. Babiker, Sumanta K. Pal, Michael Lilly, Benjamin L. Maughan, Benjamin Haaland, Mark Yandell, Oliver Sartor, Neeraj Agarwal   +20 more
doaj   +1 more source

Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in Cypriot population. [PDF]

, 2010
Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk
Daniel, M, Hadjisavvas, A, Loizidou, MA, Newbold, RF, Neuhausen, SL, Marcou, Y, Michael, T, Bashiardes, E, Cariolou, MA, Kakouri, E   +9 more
core   +6 more sources

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. [PDF]

, 2002
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist.
P D P Pharoah, D F Easton, Peto, J, J Peto, Stratton, MR, Day, NE, McMullan, G, Antoniou, AC, Easton, DF, N E Day, M R Stratton, A C Antoniou, Pharoah, PDP, B J Ponder, Ponder, BJ, G McMullan   +15 more
core   +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, Alvaro Galli   +8 more
doaj   +2 more sources