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190 Possible Causes for 6 BP, BRCA2,, DEL,, PHE TER

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  • Sunburn

    BP, Montemarano AD, Sugarman K, Kraemer KH.[ncbi.nlm.nih.gov] Del Bino S, Sok J, Bessac E, Bernerd F. Relationship between skin response to ultraviolet exposure and skin color type.[ncbi.nlm.nih.gov] Tumor Growth Inhibition by Olaparib in BRCA2 Germline-Mutated Patient-Derived Ovarian Cancer Tissue Xenografts Clin. Cancer Res., February 15, 2011; 17(4): 783 - 791.[web.archive.org] J Am Acad Dermatol. 2008; 59 :881–6. [ PMC free article : PMC2717011 ] [ PubMed : 19119101 ] Masaki T, Ono R., Tanioka M., Funasaka Y., Nagano T., Moriwaki S., Nishigori C[ncbi.nlm.nih.gov]

    Missing: PHE TER
  • Malignant Neoplasm of the Breast

    TP53 PRO151THR rs28934874 OMIM_Variant C0006142 191170 0026 BREAST CANCER TP53 PRO151SER rs28934874 OMIM_Variant C0006142 600185 0001 BREAST CANCER 2, EARLY-ONSET BRCA2 6-[kobic.kr] Nuestro celular del cáncer puede ser curado girándolo dentro a fuera![giantmicrobes.com] These cancers can be caused by mutations in particular genes, such as BRCA1 or BRCA2. In some cases, genetic syndromes involving other cancers also include ...[hon.ch] Some individuals inherit defects in the DNA and genes like the BRCA1, BRCA2 and P53 among others.[news-medical.net]

  • Fanconi Anemia

    Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003; 101 :822–6. [ PubMed ] [ Google Scholar ] 6.[ncbi.nlm.nih.gov] BM analysis showed non-random clonal chromosomal abnormalities such as del (20) (q11) in 3 cases; add(1)(q12); -7, -8, and 9 in one case each.[ncbi.nlm.nih.gov] Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins.[sciencemag.org] We report on a 5-year-old Caucasian female with multiple anomalies whose deletion, 46,XX,del(21)(q22.11q22.13), was determined by a 105K oligonucleotide-based microarray.[ncbi.nlm.nih.gov]

    Missing: PHE TER
  • Breast Disorder

    TP53 PRO151THR rs28934874 OMIM_Variant C0006142 191170 0026 BREAST CANCER TP53 PRO151SER rs28934874 OMIM_Variant C0006142 600185 0001 BREAST CANCER 2, EARLY-ONSET BRCA2 6-[kobic.kr] A genome-wide association study found significant associations between bipolar disorder and the breast cancer-related genes BRCA2 and PALB2. 5 Antipsychotics and prolactin[mdedge.com] Citere found out that she did indeed carry a BRCA2 mutation and made the tough decision to have a prophylactic double mastectomy.[prevention.com] DEL - OMIM_Variant C0006142 600185 0004 BREAST CANCER 2, EARLY-ONSET BRCA2 2-BP DEL - OMIM_Variant C0006142 600185 0005 BREAST CANCER 2, EARLY-ONSET BRCA2 1-BP DEL - OMIM_Variant[kobic.kr]

  • Familial Pancreatic Carcinoma

    A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat. 2007;102:119–22. 6.[e-crt.org] One particular defect in BRCA2 (a mutation called 6174 del T) is found in about 1% of individuals of Ashkenazi Jewish descent.[pathology.jhu.edu] BRCA2 protein.[ncbi.nlm.nih.gov] PMID: 23989056 Tanaka M, Fernández-del Castillo C, Adsay V, Chari S, Falconi M, Jang J.Y, Kimura W, Levy P, Pitman M.B, Schmidt C.M, Shimizu M, Wolfgang C.L, Yamaguchi K,[pancreapedia.org]

    Missing: PHE TER
  • Familial Congenital Mirror Movements 2

    Nucleation rates range from 0.8 0.1 clusters/min (2.7 10 7 s 1 ·bp 1 ) at 100 nM Rad51 up to 13.6 0.3 clusters/min (4.7 10 6 s 1 ·bp 1 ) at 500 nM Rad51.[pnas.org] Hospital, Madrid. 21 Vall d'Hebron Institute of Oncology, Barcelona. 22 Department of Biochemistry and Molecular Biology, Building M, Campus UAB, Bellaterra (Cerdanyola del[ncbi.nlm.nih.gov] Impairment of BRCA2 function has been associated with breat, ovarian, and other cancers.[weizmann.ac.il] Indicazioni per una metodologia nell’analisi del grado di realtà in arte , in L.[journals.openedition.org]

    Missing: PHE TER
  • Ovariectomy

    Aust N Z J Surg [Internet]. 1999;69(6):438–442. CrossRef Google Scholar 81. Vasilevsky CA, Rothenberger DA, Goldberg SM. The S ileal pouch-anal anastomosis.[doi.org] Wylie Vale and Jean Rivier of the Salk Institute, La Jolla, Calif, for supplying the GnRH agonist used in this study, to Del Crowe for assistance in preparing the manuscript[nejm.org] […] for BRCA2 mutation carriers.[doi.org] There were neither ovarian cancer deaths following salpingo-oophorectomy in BRCA2 mutation carriers, nor were there any breast cancer deaths in BRCA2 mutation carriers who[jama.jamanetwork.com]

    Missing: PHE TER
  • Myelodysplasia

    Panel A shows an RT-PCR study using MtF specific-oligonucleotides (45 cycles); in lanes 2, 5, and 6, a fragment of 204 bp (indicated by the arrow) is clearly observable.[doi.org] Our aim was to characterize cases of isolated del(20q) in bone marrow biopsy specimens from patients with a history of chemotherapy with morphologic findings insufficient[ncbi.nlm.nih.gov] […] high-pitched voice, hypogonadism ATG2B/GSKIP Potentially associated diseases/syndromes – MPNs Clinical phenotypes – myeloproliferative/myelodysplastic overlap features or AML BRCA1/BRCA2[arupconsult.com] Intermediate-2 3-4 4 2.6 High 5-6 1.5 8.6 BP-MF: blast phase to myelofibrosis.[clevelandclinicmeded.com]

    Missing: PHE TER
  • Dursun Syndrome

    Upon informed consent, mutation analysis of the G6PC3 gene was performed and revealed a novel homozygous 5 bp indel mutation (c.680_684delinsT) in exon 6, resulting in Serine[ijponline.biomedcentral.com] […] tratamiento con neurofeedback en trastornos del estado del ánimo, ansiedad y fibromialgia: una revisión de literatura dc.type bachelorThesis dc.publisher Universidad del[repository.urosario.edu.co] […] syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome BLM Bloom syndrome BLOC1S3 Hermansky-Pudlak syndrome BLOC1S6 Hermansky-Pudlak syndrome BRCA2[genda.com.ar] Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP[ojrd.biomedcentral.com]

    Missing: PHE TER
  • Deafness, Autosomal Recessive, Type DFNB1A

    […] of Origin Confirmed by LINE assay Gene GJB2 Chromosomal Location 13q11-q12 Allelic Variant 1 121011.0005 ; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 Identified Mutation 1-BP[catalog.coriell.org] W24X G to A at 71 Trp at 24 into Stop E47X G to T at 139 Glu at 47 into Stop 299–300delAT del of AT at 299 Frameshift 167delT del of T at 167 Frameshift 176–191del16 del[entokey.com] 604131 0 0 HBA1, HBA2 00034 ACH ACHONDROPLASIA 100800 0 0 FGFR3 00032 b-THAL BETA-THALASSEMIA 613985 0 0 HBB 00028 BREAST CANCER BREAST CANCER, FAMILIAL 114480 0 0 ATM, BRCA2[genetik-regensburg.de] 180200 RB1 614041 Breast-ovarian cancer familial susceptibility to, 1 (BROVCA1) 604370 BRCA1 112705 Breast-ovarian cancer familial susceptibility to, 2 (BROVCA2) 612555 BRCA2[ucl.ac.uk]

    Missing: PHE TER