两个患有李-弗劳梅尼癌症家族综合征的家族。
Two families with the Li-Fraumeni cancer family syndrome.
作者信息
Pearson A D, Craft A W, Ratcliffe J M, Birch J M, Morris-Jones P, Roberts D F
出版信息
J Med Genet. 1982 Oct;19(5):362-5. doi: 10.1136/jmg.19.5.362.
Abstract
The first two families to be identified in the United Kingdom with the Li-Fraumeni syndrome of familial cancer are reported. The first family comprises breast carcinoma in the mother and adrenocortical carcinoma, medulloblastoma, and rhabdomyosarcoma in three of her four children, and the second family comprises breast carcinoma in the mother and adrenocortical carcinoma and rhabdomyosacrcoma in two of her three children. All three of the surviving children with malignancy, and one other who has recently died, possess the tissue type antigen B12.
摘要
据报道，在英国首次发现两个患有李-弗劳梅尼家族性癌症综合征的家庭。第一个家庭中，母亲患乳腺癌，她的四个孩子中有三个分别患肾上腺皮质癌、髓母细胞瘤和横纹肌肉瘤；第二个家庭中，母亲患乳腺癌，她的三个孩子中有两个分别患肾上腺皮质癌和横纹肌肉瘤。所有三名患有恶性肿瘤的幸存儿童以及另一名最近去世的儿童都具有组织类型抗原B12。
相似文献
1
Two families with the Li-Fraumeni cancer family syndrome.两个患有李-弗劳梅尼癌症家族综合征的家族。
J Med Genet. 1982 Oct;19(5):362-5. doi: 10.1136/jmg.19.5.362.
2
Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome.儿童横纹肌肉瘤：流行病学研究及一种家族性癌症综合征的鉴定
J Natl Cancer Inst. 1969 Dec;43(6):1365-73.
3
BRCA2: a cause of Li-Fraumeni-like syndrome.BRCA2：一种李-佛美尼样综合征的病因。
J Med Genet. 2008 Jan;45(1):62-3. doi: 10.1136/jmg.2007.054494.
4
Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey.儿童肾上腺皮质肿瘤、脉络丛肿瘤和横纹肌肉瘤家系中胚系 TP53 突变的流行情况和 Li-Fraumeni 综合征的发病史：一项基于人群的调查。
Pediatr Blood Cancer. 2012 Nov;59(5):846-53. doi: 10.1002/pbc.24223. Epub 2012 May 31.
5
Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer.一名患有髓母细胞瘤且有乳腺癌家族史的儿童的BRCA2基因变异。
J Neurosurg Pediatr. 2011 Nov;8(5):476-8. doi: 10.3171/2011.8.PEDS11210.
6
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.在李-佛美尼综合征家族中，癌症表型与先天性TP53基因型相关。
Oncogene. 1998 Sep 3;17(9):1061-8. doi: 10.1038/sj.onc.1202033.
7
Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature.一名患有鲁宾斯坦-泰比综合征儿童的髓母细胞瘤：病例报告及文献综述
Pediatr Neurosurg. 2001 Nov;35(5):235-8. doi: 10.1159/000050428.
8
Adrenal cortical carcinoma.肾上腺皮质癌
Am J Dis Child. 1978 Sep;132(9):936. doi: 10.1001/archpedi.1978.02120340112027.
9
Another family with the Li-Fraumeni cancer syndrome.
JAMA. 1983 Jan 14;249(2):195. doi: 10.1001/jama.249.2.195.
10
The Strang National High Risk Registry. A program for delivery of cancer risk information and a resource for research.斯特朗国家高风险登记处。一个提供癌症风险信息的项目和一项研究资源。
Ann N Y Acad Sci. 1995 Sep 30;768:317-22. doi: 10.1111/j.1749-6632.1995.tb12150.x.
引用本文的文献
1
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.分子时代的癌症易感性综合征与髓母细胞瘤
Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020.
2
What 20 years of research has taught us about the TP53 p.R337H mutation.20 年研究揭示 TP53 p.R337H 突变的奥秘。
Cancer. 2020 Nov 1;126(21):4678-4686. doi: 10.1002/cncr.33143. Epub 2020 Aug 17.
3
A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.儿科肿瘤及相关癌症易感性综合征综合综述
J Genet Couns. 2017 Jun;26(3):387-434. doi: 10.1007/s10897-017-0077-8. Epub 2017 Mar 29.
4
5
Childhood predictive genetic testing for Li-Fraumeni syndrome.儿童期李弗劳梅尼综合征预测性基因检测。
Fam Cancer. 2010 Mar;9(1):65-9. doi: 10.1007/s10689-009-9245-9. Epub 2009 Apr 30.
6
Li-Fraumeni syndrome--a molecular and clinical review.李-弗劳梅尼综合征——分子与临床综述
Br J Cancer. 1997;76(1):1-14. doi: 10.1038/bjc.1997.328.
7
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.一个患有胃癌且TP53基因第175密码子发生突变的Li-Fraumeni综合征家系扩展成员。
J Med Genet. 1995 Dec;32(12):942-5. doi: 10.1136/jmg.32.12.942.
8
p53 expression in three separate tumours from a patient with Li-Fraumeni's syndrome.一名患有李-佛美尼综合征患者的三个独立肿瘤中的p53表达。
J Clin Pathol. 1993 Jul;46(7):676-7. doi: 10.1136/jcp.46.7.676.
9
Excess risk of breast cancer in the mothers of children with soft tissue sarcomas.软组织肉瘤患儿母亲患乳腺癌的额外风险。
Br J Cancer. 1984 Mar;49(3):325-31. doi: 10.1038/bjc.1984.51.
10
Adrenal cortical tumours: epidemiological and familial aspects.肾上腺皮质肿瘤：流行病学及家族性因素
Arch Dis Child. 1987 Jul;62(7):683-9. doi: 10.1136/adc.62.7.683.
本文引用的文献
1
HLA-A and HLA-B antigens in acute leukemia: A2--B12 phenotypes correlate with longer survival in acute myelogenous leukemia.
Acta Haematol. 1981;65(2):73-8. doi: 10.1159/000207154.
2
Incidence of malignant disease in childhood: a 24-year review of the Manchester Children's Tumour Registry data.儿童期恶性疾病的发病率：对曼彻斯特儿童肿瘤登记处数据的24年回顾。
Br J Cancer. 1980 Aug;42(2):215-23. doi: 10.1038/bjc.1980.221.
3
Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?软组织肉瘤、乳腺癌及其他肿瘤。一种家族性综合征？
Ann Intern Med. 1969 Oct;71(4):747-52. doi: 10.7326/0003-4819-71-4-747.
4
Chromosome studies in a "cancer family".一个“癌症家族”的染色体研究
Cancer. 1971 Aug;28(2):519-28. doi: 10.1002/1097-0142(197108)28:2<519::aid-cncr2820280234>3.0.co;2-g.
5
Breast cancer genetics and cancer control. Tumor association.乳腺癌遗传学与癌症控制。肿瘤关联。
Arch Surg. 1975 Oct;110(10):1227-9. doi: 10.1001/archsurg.1975.01360160065010.
6
HLA in breast cancer-prone families and the cancer family syndrome.乳腺癌高发家族中的人类白细胞抗原与癌症家族综合征。
Prog Clin Biol Res. 1977;16:149-62.
7
Occurrence of childhood cancers among sibs and estimation of familial risks.同胞中儿童癌症的发生情况及家族风险评估。
J Med Genet. 1977 Apr;14(2):81-90. doi: 10.1136/jmg.14.2.81.
8
Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma.
Cancer. 1978 May;41(5):2055-64. doi: 10.1002/1097-0142(197805)41:5<2055::aid-cncr2820410554>3.0.co;2-x.
9
Peculiarities in the occurrence of adrenal cortical carcinoma.肾上腺皮质癌发生的特点。
Am J Dis Child. 1978 Mar;132(3):235-6. doi: 10.1001/archpedi.1978.02120280019001.
10
Childhood cancer and the SBLA syndrome.
Med Hypotheses. 1979 Jan;5(1):15-22. doi: 10.1016/0306-9877(79)90059-8.
Zotero 插件