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Select item 111585931.

Aberrant methylation of breast and ovarian cancer susceptibility gene 1 in chemosensitive human ovarian cancer cells does not involve the phosphatidylinositol 3′‐kinase–Akt pathway

Yan‐Qiu Wang, Jia‐Rong Zhang, Shuang‐Di Li, Yin‐Yan He, Yi‐Xia Yang, Xue‐Lian Liu, Xiao‐Ping Wan

Cancer Sci. 2010 Jul; 101(7): 1618–1623. Published online 2010 Mar 17. doi: 10.1111/j.1349-7006.2010.01568.x

PMCID:: PMC11158593

Abstract Article PDF–568K

Select item 109410252.

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers

Brant Gracia, Patricia Montes, Angelica Maria Gutierrez, Banu Arun, Georgios Ioannis Karras

Cell Rep. Author manuscript; available in PMC 2024 Mar 15.

Published in final edited form as: Cell Rep. 2024 Feb 27; 43(2): 113803. Published online 2024 Feb 17. doi: 10.1016/j.celrep.2024.113803

PMCID:: PMC10941025

Abstract Article PDF–2.1M

Select item 107706853.

The Impact of BRCA1 Expression on Survival Status in Ovarian Serous Carcinoma of Egyptian Patients

Nancy H. Amin, Bassant A. Ahmed, Amany A. Abou-Bakr, Saad Sayed Eissa, Hanan R Nassar, Mai Gad, Mohab Eissa

Asian Pac J Cancer Prev. 2023; 24(10): 3613–3620. doi: 10.31557/APJCP.2023.24.10.3613

PMCID:: PMC10770685

Abstract Article PDF–909K

Select item 107618954.

Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

Mathias Schwartz, Sabrina Ibadioune, Sophie Vacher, Marie-Charlotte Villy, Olfa Trabelsi-Grati, Jessica Le Gall, Sandrine M. Caputo, Hélène Delhomelle, Mathilde Warcoin, Virginie Moncoutier, Christine Bourneix, Nadia Boutry-Kryza, Antoine De Pauw, Marc-Henri Stern, Bruno Buecher, Emmanuelle Mouret-Fourme, Chrystelle Colas, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Lisa Golmard, Ivan Bieche

Breast. 2024 Feb; 73: 103620. Published online 2023 Dec 10. doi: 10.1016/j.breast.2023.103620

PMCID:: PMC10761895

Abstract Article PDF–800K

Select item 106989915.

Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development

Oleksii Nikolaienko, Hans P. Eikesdal, Elisabet Ognedal, Bjørnar Gilje, Steinar Lundgren, Egil S. Blix, Helge Espelid, Jürgen Geisler, Stephanie Geisler, Emiel A. M. Janssen, Synnøve Yndestad, Laura Minsaas, Beryl Leirvaag, Reidun Lillestøl, Stian Knappskog, Per E. Lønning

Genome Med. 2023; 15: 104. Published online 2023 Dec 6. doi: 10.1186/s13073-023-01262-8

PMCID:: PMC10698991

Abstract Article PDF–3.4M

Select item 106555526.

Preneoplastic stromal cells promote BRCA1-mediated breast tumorigenesis

Kevin Nee, Dennis Ma, Quy H. Nguyen, Maren Pein, Nicholas Pervolarakis, Jacob Insua-Rodríguez, Yanwen Gong, Grace Hernandez, Hamad Alshetaiwi, Justice Williams, Maha Rauf, Kushal Rajiv Dave, Keerti Boyapati, Aliza Hasnain, Christian Calderon, Anush Markaryan, Robert Edwards, Erin Lin, Ritesh Parajuli, Peijie Zhou, Qing Nie, Sundus Shalabi, Mark A. LaBarge, Kai Kessenbrock

Nat Genet. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Nat Genet. 2023 Apr; 55(4): 595–606. Published online 2023 Mar 13. doi: 10.1038/s41588-023-01298-x

PMCID:: PMC10655552

Abstract Article PDF–3.6M

Select item 105588457.

BRCA1 frameshift variants leading to extended incorrect protein C termini

Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Ranola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutierrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond Kim, Susan Armel, Edwin Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Alvaro N.A. Monteiro

HGG Adv. 2023 Oct 12; 4(4): 100240. Published online 2023 Sep 16. doi: 10.1016/j.xhgg.2023.100240

Correction in:: HGG Adv. 2024 Jul 18; 5(3): 100296.

PMCID:: PMC10558845

Abstract Article PDF–3.2M

Select item 102805558.

BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

Rita Adubeiro Lourenço, Miguel Lança, Octávia Monteiro Gil, Joana Cardoso, Teresa Lourenço, José B. Pereira-Leal, António Sebastião Rodrigues, José Rueff, Susana Nunes Silva

Mol Med Rep. 2023 Jul; 28(1): 136. Published online 2023 May 26. doi: 10.3892/mmr.2023.13023

PMCID:: PMC10280555

Abstract Article PDF–760K

Select item 102433899.

Hybrid-seq deciphers the complex transcriptional profile of the human BRCA1 DNA repair associated gene

Panagiotis G. Adamopoulos, Konstantina Athanasopoulou, Michaela A. Boti, Georgios Dimitroulis, Glykeria N. Daneva, Panagiotis Tsiakanikas, Andreas Scorilas

RNA Biol. 2023; 20(1): 281–295. Published online 2023 Jun 4. doi: 10.1080/15476286.2023.2220210

PMCID:: PMC10243389

Abstract Article PDF–5.1M

Select item 1017233310.

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka

Eur J Hum Genet. 2023 May; 31(5): 588–595. Published online 2023 Mar 16. doi: 10.1038/s41431-023-01297-w

PMCID:: PMC10172333

Abstract Article PDF–1.2M

Select item 1012229811.

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue

BMC Cancer. 2023; 23: 368. Published online 2023 Apr 21. doi: 10.1186/s12885-023-10790-w

PMCID:: PMC10122298

Abstract Article PDF–1.4M

Select item 1003381312.

BRCA, infertility, and fertility preservation: a review for counseling

Ege Baltacı, Ferah Kazancı, Feride İffet Şahin

J Assist Reprod Genet. 2023 Mar; 40(3): 465–472. Published online 2023 Jan 25. doi: 10.1007/s10815-023-02725-y

PMCID:: PMC10033813

Abstract Article PDF–719K

Select item 1002028313.

Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation

Vincent M. T. de Jong, Roelof Pruntel, Tessa G. Steenbruggen, Fonnet E. Bleeker, Petra Nederlof, Frans B. L. Hogervorst, Sabine C. linn

Fam Cancer. 2023; 22(2): 151–154. Published online 2022 Sep 16. doi: 10.1007/s10689-022-00314-z

PMCID:: PMC10020283

Abstract Article PDF–594K

Select item 995700314.

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Marijke Van Ghelue, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal

Genes (Basel) 2023 Feb; 14(2): 262. Published online 2023 Jan 19. doi: 10.3390/genes14020262

PMCID:: PMC9957003

Abstract Article PDF–2.6M

Select item 993920815.

Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer

Anna P. Sokolenko, Luisa V. Sultanova, Ilya A. Stepanov, Alexandr A. Romanko, Aigul R. Venina, Tatiana N. Sokolova, Hedi S. Musayeva, Marina Ya. Tovgereeva, Mareta Kh. Magomedova, Khusein U. Akhmatkhanov, Elisa I. Vagapova, Elkhan A. Suleymanov, Elena V. Vasilyeva, Elvina Kh. Bakaeva, Ilya V. Bizin, Svetlana N. Aleksakhina, Evgeny N. Imyanitov

Cancer Med. 2023 Feb; 12(3): 3167–3171. Published online 2022 Aug 23. doi: 10.1002/cam4.5159

PMCID:: PMC9939208

Abstract Article PDF–169K

Select item 989620616.

BRCA1 deficiency in mature CD8⁺ T lymphocytes impairs antitumor immunity

Bogang Wu, Leilei Qi, Huai-Chin Chiang, Haihui Pan, Xiaowen Zhang, Alexandra Greenbaum, Elizabeth Stark, Li-Ju Wang, Yidong Chen, Bassem R. Haddad, Dionyssia Clagett, Claudine Isaacs, Richard Elledge, Anelia Horvath, Yanfen Hu, Rong Li

J Immunother Cancer. 2023; 11(2): e005852. Published online 2023 Feb 2. doi: 10.1136/jitc-2022-005852

PMCID:: PMC9896206

Abstract Article PDF–1.9M

Select item 988331817.

Clinicopathological features, genetic alterations, and BRCA1 promoter methylation in Japanese male patients with breast cancer

Akihiko Shimomura, Masayuki Yoshida, Takashi Kubo, Satoshi Yamashita, Emi Noguchi, Aiko Nagayama, Toru Hanamura, Miki Okazaki, Toru Mukohara, Asako Tsuruga, Kiyo Tanaka, Yukino Kawamura, Toru Higuchi, Yoko Takahashi, Sasagu Kurozumi, Tetsu Hayashida, Hitoshi Ichikawa, Toshikazu Ushijima, Akihiko Suto

Breast Cancer Res Treat. 2023; 197(3): 593–602. Published online 2022 Dec 9. doi: 10.1007/s10549-022-06822-x

PMCID:: PMC9883318

Abstract Article PDF–1.7M

Select item 965677418.

Partial Reduction in BRCA1 Gene Dose Modulates DNA Replication Stress Level and Thereby Contributes to Sensitivity or Resistance

Sandra Classen, Elena Rahlf, Johannes Jungwirth, Nina Albers, Luca Philipp Hebestreit, Alexandra Zielinski, Lena Poole, Marco Groth, Philipp Koch, Thomas Liehr, Stefanie Kankel, Nils Cordes, Cordula Petersen, Kai Rothkamm, Helmut Pospiech, Kerstin Borgmann

Int J Mol Sci. 2022 Nov; 23(21): 13363. Published online 2022 Nov 1. doi: 10.3390/ijms232113363

PMCID:: PMC9656774

Abstract Article PDF–2.0M

Select item 946120119.

Dissection of transcriptome dysregulation and immune characterization in women with germline BRCA1 mutation at single-cell resolution

Xuexin Yu, Wanrun Lin, Alexandra Spirtos, Yan Wang, Hao Chen, Jianfeng Ye, Jessica Parker, Ci Ci Liu, Yiying Wang, Gabriella Quinn, Feng Zhou, Setsuko K. Chambers, Cheryl Lewis, Jayanthi Lea, Bo Li, Wenxin Zheng

BMC Med. 2022; 20: 283. Published online 2022 Sep 9. doi: 10.1186/s12916-022-02489-9

PMCID:: PMC9461201

Abstract Article PDF–5.5M

Select item 945989520.

Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer

Per E. Lønning, Oleksii Nikolaienko, Kathy Pan, Allison W. Kurian, Hans P. Eikesdal, Mary Pettinger, Garnet L. Anderson, Ross L. Prentice, Rowan T. Chlebowski, Stian Knappskog

JAMA Oncol. 2022 Nov; 8(11): 1579–1587. Published online 2022 Sep 8. doi: 10.1001/jamaoncol.2022.3846

PMCID:: PMC9459895

Abstract Article

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PMC Links for Gene (Select 672) (1480)
PMC
Homo sapiens tubulin folding cofactor B (TBCB), transcript variant 1, mRNA
Homo sapiens tubulin folding cofactor B (TBCB), transcript variant 1, mRNA
gi|1519315134|ref|NM_001281.3|

Nucleotide
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 220, mRNA
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 220, mRNA
gi|2250232373|ref|NM_001407953.1|

Nucleotide
breast cancer type 1 susceptibility protein isoform 111 [Homo sapiens]
breast cancer type 1 susceptibility protein isoform 111 [Homo sapiens]
gi|2255444169|ref|NP_001395369.1|

Protein
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 48, mRNA
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 48, mRNA
gi|2249007034|ref|NM_001407636.1|

Nucleotide

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