Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1 / BRCA2 mutation–negative families but in only 2/2,081 controls ( P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer o...

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Veröffentlicht in:	Nature genetics 2006-11, Vol.38 (11), p.1239-1241
Hauptverfasser:	Seal, Sheila, Thompson, Deborah, Renwick, Anthony, Elliott, Anna, Kelly, Patrick, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, Ahmed, Munaza, Spanova, Katarina, North, Bernard, McGuffog, Lesley, Evans, D Gareth, Eccles, Diana, Easton, Douglas F, Stratton, Michael R, Rahman, Nazneen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine BRCA mutations Breast cancer Breast Neoplasms - genetics brief-communication Cancer Research Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) Codon, Nonsense Complications and side effects Diagnosis DNA-Binding Proteins - genetics Fanconi Anemia Complementation Group Proteins - genetics Fanconi's anemia Fundamental and applied biological sciences. Psychology Gene Frequency Gene Function Genetic aspects Genetic Carrier Screening Genetic Predisposition to Disease Genetics Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Human Genetics Humans Identification and classification Mammary gland diseases Medical genetics Medical sciences Middle Aged Mutation Pedigree Penetrance Risk factors RNA Helicases - genetics Tumors
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