Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
نویسندگان
چکیده
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, The Breast Cancer Susceptibility Collaboration (UK), K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman, for the Familial Wilms Tumour Collaboration . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
LETTER TO JMG Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, The Breast Cancer Susceptibility Collaboration (UK), K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman, for the Familial Wilms Tumour Collaboration . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملFanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
Fanconi anaemia (FA) is an inherited condition characterised by congenital and developmental abnormalities and a strong cancer predisposition. In around 3-5% of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and the s...
متن کاملAssociation of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.
The clinical, cytogenetic, and molecular findings of 2 Fanconi anemia (FA) subtype D1 kindreds, initially identified through a young child with a solid tumor (medullobastoma, Wilms tumor), are described. Each kindred subsequently had a second affected child; one developed Wilms tumor followed by a medulloblastoma, and the other developed T-lineage acute lymphoblastic leukemia. Cytogenetic studi...
متن کاملClinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1. We analysed the severity of the mutations in 27 cases, classified according to their association with breast cancer in heterozygotes, and their predicted functional effect. Twenty mutations were frameshifts or truncations, three involved splice sites, five were missense variants of unknown severity and two were benign p...
متن کاملCancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.
Autosomal dominant cancer predisposition genes for common cancers such as breast cancer and colorectal cancer have been well recognized for over a decade. Monoallelic mutations in these genes are associated with high risks of adult-onset cancer. In recent years, it has become apparent that biallelic mutations in some of these genes, such as BRCA2, MSH2 and MLH1, result in distinctive phenotypes...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 42 2 شماره
صفحات -
تاریخ انتشار 2005