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      Health supervision for people with Bloom syndrome

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          Most cited references31

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          The Bloom's syndrome gene product is homologous to RecQ helicases.

          The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by direct selection of a cDNA derived from a 250 kb segment of the genome to which BLM had been assigned by somatic crossover point mapping. In this novel mapping method, cells were used from persons with BS that had undergone intragenic recombination within BLM. cDNA analysis of the candidate gene identified a 4437 bp cDNA that encodes a 1417 amino acid peptide with homology to the RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases. The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
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            Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results.

            : To prospectively compare clinical breast examination, mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (MRI) in a multicenter surveillance of high-risk women. : We enrolled asymptomatic women aged ≥ 25: BRCA mutation carriers; first-degree relatives of BRCA mutation carriers, and women with strong family history of breast/ovarian cancer, including those with previous personal breast cancer. : A total of 18 centers enrolled 501 women and performed 1592 rounds (3.2 rounds/woman). Forty-nine screen-detected and 3 interval cancers were diagnosed: 44 invasive, 8 ductal carcinoma in situ; only 4 pT2 stage; 32 G3 grade. Of 39 patients explored for nodal status, 28 (72%) were negative. Incidence per year-woman resulted 3.3% overall, 2.1% <50, and 5.4% ≥ 50 years (P < 0.001), 4.3% in women with previous personal breast cancer and 2.5% in those without (P = 0.045). MRI was more sensitive (91%) than clinical breast examination (18%), mammography (50%), ultrasonography (52%), or mammography plus ultrasonography (63%) (P < 0.001). Specificity ranged 96% to 99%, positive predictive value 53% to 71%, positive likelihood ratio 24 to 52 (P not significant). MRI showed significantly better negative predictive value (99.6) and negative likelihood ratio (0.09) than those of the other modalities. At receiver operating characteristic analysis, the area under the curve of MRI (0.97) was significantly higher than that of mammography (0.83) or ultrasonography (0.82) and not significantly increased when MRI was combined with mammography and/or ultrasonography. Of 52 cancers, 16 (31%) were diagnosed only by MRI, 8 of 21 (38%) in women <50, and 8 of 31 (26%) in women ≥ 50 years of age. : MRI largely outperformed mammography, ultrasonography, and their combination for screening high-risk women below and over 50.
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              Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

              Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature protein-translation termination and 10 missense mutations. In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS; 19 of the 64 different mutations were recurrent. Ethnic affiliations of the persons who carry recurrent mutations indicate that the majority of such persons inherit their BLM mutation identical-by-descent from a recent common ancestor, a founder. The presence of widespread founder mutations in persons with BS points to population genetic processes that repeatedly and pervasively generate mutations that recur in unrelated persons.
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                Author and article information

                Journal
                American Journal of Medical Genetics Part A
                Am J Med Genet
                Wiley
                1552-4825
                1552-4833
                July 28 2018
                September 2018
                July 28 2018
                September 2018
                : 176
                : 9
                : 1872-1881
                Affiliations
                [1 ]Division of Medical Genetics, Department of PediatricsWeill Cornell Medical College New York New York
                [2 ]Department of PediatricsJohns Hopkins University School of Medicine Baltimore Maryland
                [3 ]Department of Cellular and Molecular MedicineUniversity of Arizona Cancer Center Tucson Arizona
                [4 ]Division of Hematology/Oncology, Department of PediatricsHofstra Northwell School of Medicine Hempstead New York
                [5 ]Division of Endocrinology and DiabetesChildren's Hospital of Philadelphia Philadelphia Pennsylvania
                [6 ]Department of PediatricsMemorial Sloan Kettering Cancer Center New York New York
                [7 ]Department of Epidemiology and BiostatisticsMemorial Sloan Kettering Cancer Center New York New York
                Article
                10.1002/ajmg.a.40374
                30055079
                3f74742f-b72f-41c5-9a84-31b9f23a340e
                © 2018

                http://onlinelibrary.wiley.com/termsAndConditions#vor

                http://doi.wiley.com/10.1002/tdm_license_1.1

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