Susceptibility Pathways in Fanconi's Anemia and Breast Cancer

Fanconi's anemia is a rare disorder that arises from defective repair of damaged DNA. Of the 13 Fanconi's anemia genes, 3 are breast-cancer–susceptibility genes. One is identical to BRCA2 . Cells from patients with the D1 subtype of Fanconi's anemia and their family members carry bial...

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Vydané v:	The New England journal of medicine Ročník 362; číslo 20; s. 1909 - 1919
Hlavný autor:	D'Andrea, Alan D
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Waltham, MA Massachusetts Medical Society 20.05.2010
Predmet:	Anemias. Hemoglobinopathies Biological and medical sciences Breast Neoplasms - genetics Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) Diseases of red blood cells DNA Methylation DNA Repair - physiology Epigenesis, Genetic Fanconi Anemia - diagnosis Fanconi Anemia - genetics Fanconi Anemia - therapy Fanconi Anemia Complementation Group Proteins - genetics Fanconi Anemia Complementation Group Proteins - metabolism Fanconi Anemia Complementation Group Proteins - physiology Female General aspects Genes, BRCA2 Genetic Predisposition to Disease Germ-Line Mutation Hematologic and hematopoietic diseases Humans Medical genetics Medical sciences Metabolic Networks and Pathways Mutation Ovarian Neoplasms - genetics Chromosome fragility Breast disease Fanconi anemia Hemopathy Breast cancer Malignant tumor Genetic disease Medicine Mammary gland diseases Sensitivity Predisposition Mammary gland Cancer
ISSN:	0028-4793, 1533-4406, 1533-4406
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Shrnutí:	Fanconi's anemia is a rare disorder that arises from defective repair of damaged DNA. Of the 13 Fanconi's anemia genes, 3 are breast-cancer–susceptibility genes. One is identical to BRCA2 . Cells from patients with the D1 subtype of Fanconi's anemia and their family members carry biallelic mutations in BRCA2 , and heterozygote members of kindreds with the D1 subtype have an increased risk of breast and ovarian cancer. Studies of a rare disorder can thus illuminate a common disorder. Fanconi's anemia is a rare disorder that arises from defective repair of damaged DNA. Of the 13 Fanconi's anemia genes, 3 are breast-cancer̵1;susceptibility genes. One is identical to BRCA2. Studies of a rare disorder can illuminate a common disorder. The study of rare genetic diseases can lead to insights into the cause and treatment of more common diseases. An example is Fanconi's anemia, a rare disorder of chromosomal instability. Studies of this disorder have elucidated the general mechanisms of bone marrow failure, cancer pathogenesis, and resistance to chemotherapy. There are 13 genes involved in Fanconi's anemia, and 1 of them is identical to the well-known breast-cancer–susceptibility gene, BRCA2 (Table 1). The proteins encoded by these Fanconi's anemia genes cooperate in the recognition and repair of damaged DNA. The genes are inactivated not only in Fanconi's anemia but also in . . .
Bibliografia:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Review-3 content type line 23
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMra0809889