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1,386 Possible Causes for 1, BRCA2,, G A,, IVS19

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  • Fanconi Anemia

    Record 1, English Record 1, Subject field(s) Human Diseases - Various Genetics Record 1, Abbreviations, English Record 1, Textual support, English Record number: 1, Textual[btb.termiumplus.gc.ca] FA-G patients.[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.[doi.org] […] four FA-G patients.[doi.org]

    Missing: IVS19
  • Endocrine Dysfunction

    Endocrine dysfunction at 1 year did not correlate with the severity of injury.[ncbi.nlm.nih.gov] Canaris, G. J. , Tape, T. G. & Wigton, R. S.[nature.com] Women who have inherited mutations in the BRCA1 or BRCA2 gene face a much higher risk of developing breast cancer and ovarian cancer compared with the general population.[hormone.org] RESULTS: Compared to PANC-1, MPs from CFPAC-1 significantly reduced insulin secretion and lysosomal activity in RIN-m5F.[ncbi.nlm.nih.gov]

    Missing: IVS19
  • Hereditary Breast Cancer

    Since the identification of the breast cancer susceptibility genes BRCA 1/2, genetic assessments of individuals and their families has greatly increased.[ncbi.nlm.nih.gov] .-1060A G; HBC GG 15, Control TT 8; OR 5.67, CI95% 2.26-14.20; p 0.0001).[ncbi.nlm.nih.gov] METHODS: The entire PALB2 coding region was sequenced in 409 breast/ovarian cancer patients negative for BRCA1 and BRCA2 mutations.[ncbi.nlm.nih.gov] SUSAN G.[ww5.komen.org]

    Missing: IVS19
  • Malignant Ovarian Neoplasm

    "My name is Cheryl and I am one of the few women that are diagnosed with Stage 1 ovarian cancer .[sharecancersupport.org] Pignata S, Scambia G, Ferrandina G, et al.[emedicine.medscape.com] - and BRCA2 -associated disease.[clincancerres.aacrjournals.org] Critical Essential Core Tested Community Questions (5) (M1.ON.1) A 52-year-old patient undergoes a biopsy of the ovary, with the results shown in Figure A.[medbullets.com]

    Missing: IVS19
  • Gaucher Disease Type 1

    According to similar studies, the incidence of Gaucher disease is about 1 in 50,000 live births in the general population, and 1 in 800 among Ashkenazi Jews.[symptoma.com] […] non-pseudogene-derived complex allele [c.1379G A;c.1469A G] encoding [p.G460D;p.H490R].[ncbi.nlm.nih.gov] […] tip 4 - mutatii PMS2 Diagenom 5300.00 BM72 Cancer colorectal non-polipozic ereditar tip 5 - mutatii MSH6 Diagenom 5900.00 BM87 Cancer de prostata - mutatii ELAC2, RNASEL, BRCA2[mediscamp.ro] Statistically significant improvements occurred in mean hemoglobin level (1.62 g/dL; 95% CI 1.05-2.18 g/dL), platelet count (40.3%; 95% CI 23.7-57.0 g/dL), spleen volume ([ncbi.nlm.nih.gov]

    Missing: IVS19
  • Familial Pancreatic Carcinoma

    No tissue samples were available from Subject I-1, I-2, or III-1. Subject II-1 chose not to participate in the study.[nejm.org] Hans G. Beger MD, FACS, Emeritus Professor of Surgery, Universitätsklinikum Ulm, Universität Ulm, Ulm, Germany.[books.google.com] BRCA2 protein.[ncbi.nlm.nih.gov] Ann Oncol 1999, 10 (Suppl 4):4–8. 10.1023/A:1008307913019 View Article PubMed Google Scholar Moore PS, Beghelli S, Zamboni G, Scarpa A: Genetic abnormalities in pancreatic[hccpjournal.biomedcentral.com]

    Missing: IVS19
  • Spinocerebellar Ataxia Type 1

    […] type 1.[symptoma.com] Filla A, DeMichele G, Caruso G, Marconi R, Campanella G (1990) Genetic data and natural history of Friedreich’s disease: a study of 80 Italian patients.[doi.org] B. für die Gene BRCA1 und BRCA2 entsprechend dem Breast Cancer Information Core, BIC).[medizinische-genetik-dresden.de] Intriguingly, this process is suppressed by RAD51 and BRCA2, which are required for homologous recombination at DSBs 50 .[doi.org]

    Missing: IVS19
  • Papillary Serous Cystadenocarcinoma of the Ovary

    Phase 3,Phase 2,Phase 1 20 Antifungal Agents Phase 2, Phase 3,Phase 1 21 Anti-Infective Agents Phase 2, Phase 3,Phase 1 22 Hormone Antagonists Phase 2, Phase 3,Phase 3 23[malacards.org] Scambia G, Catozzi L, Panici PB, Ferrandina G, Coronetta F, Barozzi R, Baiocchi G, Uccelli L, Piffanelli A, Mancuso S American journal of obstetrics and gynecology. 1993 ;[atlasgeneticsoncology.org] For example, the search term "brca" will find genes "BRCA1" and "BRCA2", mutations that occur in genes BRCA1 and BRCA2, samples with names like "BrCa8", and PubMed entries[cancer.sanger.ac.uk] May be associated with a BRCA1 gene or BRCA2 gene mutation. [1] Approximately 20% of high-grade serous carcinoma are associated with BRCA1 or BRCA2. [2] Precursors lesions[librepathology.org]

    Missing: IVS19
  • Familial Prostate Cancer

    Hum Genet. 2008 Feb;123(1):65-75. Epub 2007 Dec 8.[ncbi.nlm.nih.gov] G.[clinicaltrials.gov] We have evaluated immunohistochemical expression of BRCA2 protein and allelic loss of markers at the BRCA2 locus in tissue derived both from sporadic and from familial cases[ncbi.nlm.nih.gov] Urology. 2001 Apr;57(4 Suppl 1):178-81.[ncbi.nlm.nih.gov]

    Missing: IVS19
  • Oculocutaneous Albinism, Type 2

    Oculocutaneous albinism type 1, 2, 3 and 4 (Oculocutaneous albinism types 1, 2, 3 and 4) - Genes TYR, OCA2, TYRP1, SLC45A2 and MC1R Oculocutaneous albinism (OCA: Cutaneous[ivami.com] A, IVS24-1 G C).[ncbi.nlm.nih.gov] ., 2000 2080-42delG c.2080-42delG None IVS19 Oetting et al., 2005 2139 7insA_ 8 c.2139 7_2139 8insA None IVS20 Oetting et al., 2005 2139 22A/T c.2139 22A/T None IVS19 Lee[ifpcs.org] B. für die Gene BRCA1 und BRCA2 entsprechend dem Breast Cancer Information Core, BIC).[medizinische-genetik-dresden.de]