Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
about
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility geneFanconi anemia and the cell cycle: new perspectives on aneuploidySquamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelinesMitotic homologous recombination maintains genomic stability and suppresses tumorigenesisSuppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions.An abnormal bone marrow microenvironment contributes to hematopoietic dysfunction in Fanconi anemia.Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumourDevelopment of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneElevated breast cancer risk among mothers of a population-based series of 2668 children with cancer.Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroupRecurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancerAgenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practiceFanconi anaemia genes and susceptibility to cancer.A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and functionPhenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screeningClinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumorBRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.The Fanconi anemia protein interaction network: casting a wide net.Update on genetic predisposition to breast cancer.Bilateral Triple-Negative Invasive Breast Cancer with a BRCA2 Mutation, and Glioblastoma: A Case Report and Literature Review.Current clinical management of Fanconi anemia.Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.Associations between LMO1 gene polymorphisms and Wilms' tumor susceptibility.Synchronous occurrence of acute lymphoblastic leukemia and wilms tumor in two patients: underlying etiology and combined treatment plan.Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.Fanconi anemia and solid malignancies in childhood: a national retrospective study.Familial breast cancer.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.Scaling up to study brca2: the zeppelin zebrafish mutant reveals a role for brca2 in embryonic development of kidney mesoderm.Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
P2860
Q24615080-31566F9D-0ECF-49C0-AD71-7E9E5BB6888DQ27014905-CFEFCEE5-6246-4E99-BCE0-1347D4818DA1Q27686904-08E9C3B9-E850-4712-9EE8-5DA73A835BD5Q28274000-49661055-1D89-4D19-8695-224EA17018C8Q33244989-A2C75CBA-04A8-4670-9873-515711B436C3Q33746712-273913D3-7CB3-46BD-BC6A-BA8032BC3497Q33772549-C65A44B9-2F4F-4E83-8C62-1AA231785564Q35150486-4757567F-6521-4CDC-B33C-40F023BAE3B1Q35602214-1DDA78F1-A076-4A33-96A1-5F429C893EDCQ35710253-944BD217-B6F0-47D6-AF99-ACF21D851956Q35830539-6D34C8D5-487E-474C-8493-AA01039D6D0BQ36466476-D58CD0A8-20E3-469A-B04F-7A15B6F4CED1Q36475859-401E939B-3410-4D82-A1BC-8024AE0BF67EQ36542374-9C78B9B7-0F9B-4094-94E6-E2122F3D12D6Q36602573-034A3D48-8DCA-491E-B46D-62E07CBC4DC6Q36922848-FE5440FD-A641-432C-9655-8A951DB68159Q37004478-8632E77D-1371-44D6-AE42-63B3292294B9Q37004481-7E8BE9D7-9FC0-43E6-825F-4A21DE5DAB41Q37195130-1C267A99-16B6-4B2B-A76D-78FC3B2CD3FCQ37336126-4C1D492F-9E16-498B-BF64-1F50F508CDE1Q37356265-D234CB4B-9B16-4071-A8FC-F1C4923394C7Q37577923-FB4BDAAB-BF6D-488C-B164-01AB500EBF75Q37735950-E78333FE-EF7F-4A56-B3B8-50B273428983Q38059251-4EEA1583-5CDB-445D-A5AF-883CF7FB5B9FQ38164646-1A26192F-41FD-4695-9CEE-78D5F9343B2CQ38745817-F9AE6A31-97F0-4D20-8FE8-67DED595181FQ39199102-DA8F1342-43A1-4F66-890C-9A83199E5532Q39385071-E36E00D8-65E0-46B9-A1E0-FD8BFC20B748Q40053313-7DA6EE4B-0F69-4294-B7DD-7893455CB592Q40079552-184FB46C-76FC-4FD7-877A-F35A93819464Q48254300-E3140A28-0BC7-4FA9-9D1A-E8C490C4ACE7Q48461365-08E0DA59-C535-4EAA-B306-38F1DA14297AQ51627211-1C115110-B5A9-4D1D-BCD7-73233D2F9DDAQ52793910-AF804A65-24CE-4315-A56F-9BD05B9B1784Q55073551-2A96C17D-FD6E-4954-8762-1D28882654D2Q55262812-95E6A03D-F253-4051-A8D2-10F08E15253EQ56625730-279E61A6-5726-4A47-83E4-1AF150BB2C6C
P2860
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@en
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@nl
type
label
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@en
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@nl
prefLabel
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@en
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@nl
P2093
P356
P1476
Biallelic BRCA2 mutations are ...... cluding familial Wilms tumour.
@en
P2093
A Ridolfi-Lüthy
Breast Cancer Susceptibility Collaboration (UK)
Familial Wilms Tumour Collaboration
H Jayatilake
K Pritchard-Jones
L Baskcomb
P304
P356
10.1136/JMG.2004.022673
P407
P577
2005-02-01T00:00:00Z