Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

Guerrini-Rousseau Lea; Dufour Christelle; Varlet Pascale; Masliah-Planchon Julien; Bourdeaut Franck; Guillaud-Bataille Marine; Abbas Rachid; Bertozzi Anne-Isabelle; Fouyssac Fanny; Huybrechts Sophie; Puget Stephanie; Bressac-De Paillerets Brigitte; Caron Olivier; Sevenet Nicolas; Dimaria Marina; Villebasse Sophie; Delattre Olivier; Valteau-Couanet Dominique; Grill Jacques; Brugieres Laurence

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Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

机译：生殖SUFU突变携带者和髓母细胞瘤：临床特征，癌症风险和预后

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Background. Germline mutations of suppressor of fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.

机译：背景。融合同源物抑制剂（SUFU）的种系突变易患声波刺猬（SHH）髓母细胞瘤。生殖器SUFU突变已在无基底细胞癌综合征（NBCCS）中报道，但对癌症风险和临床范围知之甚少。

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来源
《Neuro-Oncology》 |2018年第8期|1122-1132|共11页
作者
Guerrini-Rousseau Lea; Dufour Christelle; Varlet Pascale; Masliah-Planchon Julien; Bourdeaut Franck; Guillaud-Bataille Marine; Abbas Rachid; Bertozzi Anne-Isabelle; Fouyssac Fanny; Huybrechts Sophie; Puget Stephanie; Bressac-De Paillerets Brigitte; Caron Olivier; Sevenet Nicolas; Dimaria Marina; Villebasse Sophie; Delattre Olivier; Valteau-Couanet Dominique; Grill Jacques; Brugieres Laurence;
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作者单位

Univ Paris Saclay, Dept Cancerol Enfant & Adolescent, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Dept Cancerol Enfant & Adolescent, Gustave Roussy, Villejuif, France;

Univ Paris 05, Serv Neuropathol, Hop St Anne, Paris, France;

PSL Res Univ, INSERM, U830, Genet & Biol Canc Inst Curie, Paris, France;

PSL Res Univ, INSERM, U830, Genet & Biol Canc Inst Curie, Paris, France;

Univ Paris Saclay, Dept Biol & Pathol Med, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Univ Paris Sud, INSERM, U1018,CESF, Villejuif, France;

CHU Toulouse, Unite Hematoimmunooncol Pediat, Toulouse, France;

CHU Nancy, Hop Enfants, Oncohematol Pediat, Nancy, France;

Univ Libre Bruxelles, Hematol Oncol Unit, Hop Univ Enfants Reine Fabiola, Brussels, Belgium;

Univ Paris 05, Serv Neurochirurg Pediat, Sorbonne Paris Cite, Hop Necker Enfants Malad, Paris, France;

Univ Paris Saclay, Dept Biol & Pathol Med, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Dept Med Oncol, Gustave Roussy, Villejuif, France;

Inst Bergonie, Dept Biopathol, Lab Genet Mol, Bordeaux, France;

Univ Paris Saclay, Dept Med Oncol, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Dept Med Oncol, Gustave Roussy, Villejuif, France;

PSL Res Univ, INSERM, U830, Genet & Biol Canc Inst Curie, Paris, France;

Univ Paris Saclay, Dept Cancerol Enfant & Adolescent, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Dept Cancerol Enfant & Adolescent, Gustave Roussy, Villejuif, France;

Univ Paris Saclay, Dept Cancerol Enfant & Adolescent, Gustave Roussy, Villejuif, France;

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正文语种 eng
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关键词
germline SUFU mutations; infant; medulloblastoma; predisposition;

机译：种系SUFU突变婴儿髓母细胞瘤易感性;

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专利

1. Germline Mutations in SUFU Cause Gorlin Syndrome-Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations [J] . Smith Miriam J., Beetz Christian, Williams Simon G., Journal of Clinical Oncology . 2014,第36期

机译：SUFU中的种系突变导致戈兰综合征相关儿童Medulloblastoma，并重新定义与PTCH1突变相关的风险
2. Clinical Characteristics of Patients with Germline SUFU Mutations [J] . Guerrini-Rousseau L., Guillaud-Bataille M., Bourdeaut F., Pediatric blood & cancer . 2016,第Suppla3期

机译：生殖系SUFU突变患者的临床特征
3. Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers [J] . Lee Young-Jae, Lee Shin-Wha, Kim Kyu-Rae, Journal of Gynecologic Oncology . 2017,第1期

机译：乳腺癌种系BRCA突变携带者降低风险的输卵管卵巢切除术（RRSO）的病理发现：种系BRCA突变携带者在最佳年龄时双侧RRSO的意义
4. GERMLINE AND SOMATIC MUTATIONS OF APC GENE AND THE GENOTYPE-PHENOTYPE ANALYSIS IN FAP AND SPORADIC COLORECTAL CANCERS [C] . Xiaorong Liu, Department of Genetics, Xiangnian Shan, 第四届国际后基因组生命科学技术学术论坛 . 2006

机译：FAP和散发性大肠癌中APC基因的种系和体细胞突变以及基因型-表型分析
5. Characterization of germline CHEK2 mutations in African-American women at high risk for hereditary breast cancer. [D] . Hill, Janell Glennette. 2009

机译：遗传性乳腺癌高风险的非裔美国女性生殖系CHEK2突变的表征。
6. Germline SUFU mutation carriers and medulloblastoma: clinical characteristics cancer risk and prognosis [O] . Léa Guerrini-Rousseau, Christelle Dufour, Pascale Varlet, 2018

机译：生殖SUFU突变携带者和髓母细胞瘤：临床特征癌症风险和预后
7. Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers [O] . Young-Jae Lee, Shin-Wha Lee, Kyu-Rae Kim, 2017

机译：患有乳腺癌的Germline BRCA突变携带者的风险降低的Salpingo-Oophorectomy（RRSO）的病理发现：双侧RRSO在种系BRCA突变载体的最佳年龄的重要性

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis

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