Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele

Suspitsin, Evgeny; Yanus, Grigory; Sokolenko, Anna; Yatsuk, Olga; Zaitseva, Olga; Bessonov, Alexandr; Ivantsov, Alexandr; Heinstein, Valeria; Klimashevskiy, Valery; Togo, Alexandr; Imyanitov, Evgeny
February 2014
Medical Oncology;Feb2014, Vol. 31 Issue 2, p1
Academic Journal
No abstract available.


Related Articles

  • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations. Sokolenko, Anna; Bogdanova, Natalia; Kluzniak, Wojciech; Preobrazhenskaya, Elena; Kuligina, Ekatherina; Iyevleva, Aglaya; Aleksakhina, Svetlana; Mitiushkina, Natalia; Gorodnova, Tatiana; Bessonov, Alexandr; Togo, Alexandr; Lubiński, Jan; Cybulski, Cezary; Jakubowska, Anna; Dörk, Thilo; Imyanitov, Evgeny // Breast Cancer Research & Treatment;Jun2014, Vol. 145 Issue 2, p553 

    17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 affected women for recurrent Slavic mutations in BRCA1, CHEK2, NBN/NBS1, ATM, and BLM genes. Double heterozygosity was found for BRCA1 and BLM (4 patients), BRCA1 and CHEK2 (4 patients), CHEK2 and...

  • Effect of the R406H Substitution on the Normal Function of CHEK2. Yilmaz, Ahmet; Davis, Michael E.; Zhao, Weiqiang // Advances in Bioscience & Biotechnology;Mar2014, Vol. 5 Issue 4, p386 

    CHEK2 (Checkpoint kinase homolog 2) encodes a protein involved in pathways that arrest the cell cycle in response to genomic stress such as DNA damage or replication blocks. Carriers of some of the CHEK2 mutations are at an increased risk of breast cancer. A mutation in the kinase domain of the...

  • Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. Manoukian, Siranoush; Peissel, Bernard; Frigerio, Simona; Lecis, Daniele; Bartkova, Jirina; Roversi, Gaia; Radice, Paolo; Bartek, Jiri; Delia, Domenico // Breast Cancer Research & Treatment;Nov2011, Vol. 130 Issue 1, p207 

    CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles. Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple...

  • Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Guilford, Parry; Humar, Bostjan; Blair, Vanessa // Gastric Cancer;Mar2010, Vol. 13 Issue 1, p1 

    Hereditary diffuse gastric cancer (HDGC) is the only known cancer syndrome that is dominated by gastric adenocarcinoma. HDGC is caused by germline mutation of the CDH1 gene that encodes the cell adhesion protein E-cadherin. Mutation carriers have a more than 70% lifetime risk of developing DGC...

  • A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk. Wang, N; Ding, H; Liu, C; Li, X; Wei, L; Yu, J; Liu, M; Ying, M; Gao, W; Jiang, H; Wang, Y // Oncogene;10/1/2015, Vol. 34 Issue 40, p5198 

    Certain predisposition factors such as BRCA1/2 and CHEK2 mutations cause familial breast cancers that occur early. In China, breast cancers are diagnosed at relatively younger age, and higher percentage of patients are diagnosed before 40 years, than that in Caucasians. However, the prevalence...

  • A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors. Yeh, I-Tien; Lenci, Romina; Qin, Yuejuan; Buddavarapu, Kalyan; Ligon, Azra; Leteurtre, Emmanuelle; Cao, Christine; Cardot-Bauters, Catherine; Pigny, Pascal; Dahia, Patricia // Human Genetics;Oct2008, Vol. 124 Issue 3, p279 

    Recently, the KIF1Bβ gene on 1p36, a region commonly deleted in neural crest cancers, was found to be a proapoptotic factor for sympathetic precursors. KIF1Bβ mutations were detected in pheochromocytomas and neuroblastomas, two sympathetic lineage tumors, suggesting a role for this gene in...

  • Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation. Tuu, Andrew N. J.; van Oostrom, Conny Th. M.; Ross, Gillian M.; van Steeg, Harry; Ashworth, Alan // EMBO Reports;Mar2002, Vol. 3 Issue 3, p255 

    The breast cancer predisposition gene BRCA2 encodes a protein involved in the repair of DNA double-strand breaks, which arise spontaneously and following exposure to ionizing radiation (IR). To develop a mouse model that examines the effect of BRCA2 mutation and IR exposure on in vivo somatic...

  • First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report. Ripamonti, Carla B; Colombo, Mara; Mondini, Patrizia; Siranoush, Manoukian; Peissel, Bernard; Bernard, Loris; Radice, Paolo; Carcangiu, Maria Luisa // BMC Cancer;2013, Vol. 13 Issue 1, p1 

    Background: Acinic cell carcinoma (ACC) is a rare malignant epithelial neoplasm characterized by the presence of malignant tubular acinar exocrine gland structures. Diagnosis is generally made in salivary glands and in the pancreas. ACC of the breast has been reported in few cases only. Carriers...

  • CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. Sodha, N; Bullock, S; Taylor, R; Mitchell, G; Guertl-Lackner, B; Williams, R D; Bevan, S; Bishop, K; McGuire, S; Houlston, R S; Eeles, R A // British Journal of Cancer;12/2/2002, Vol. 87 Issue 12, p1445 

    We have recently shown that the CHEK2[sup *]1100delC mutation acts as a low penetrance breast cancer susceptibility allele. To investigate if other CHEK2 variants confer an increased risk of breast cancer, we have screened an affected individual with breast cancer from 68 breast cancer families....

  • Genomic profiling of CHEK2*1100delC-mutated breast carcinomas. Massink, Maarten P. G.; Kooi, Irsan E.; Martens, John W. M.; Waisfisz, Quinten; Meijers-Heijboer, Hanne // BMC Cancer;11/9/2015, Vol. 15, p1 

    Background: CHEK2*1100delC is a moderate-risk breast cancer susceptibility allele with a high prevalence in the Netherlands. We performed copy number and gene expression profiling to investigate whether CHEK2*1100delC breast cancers harbor characteristic genomic aberrations, as seen...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics