نتایج جستجو برای: 6174delt
تعداد نتایج: 65 فیلتر نتایج به سال:
Interstitial lung diseases are diffuse parenchymal lung diseases, and represent a heterogeneous group of disorders including lymphocytic interstitial pneumonitis, interstitial lung diseases of unknown etiology, including sarcoidosis, idiopathic pulmonary fibrosis, and pulmonary fibrosis associated with connective tissue diseases [1]. Most of the interstitial disorders have a restrictive pattern...
Inherited predisposition to cancer is a major contributor to the breast and ovarian cancer burden among people of Ashkenazi ancestry. Approximately 2.5% of all people of Ashkenazi Jewish descent carry one of three ancient (founder) mutations in BRCA1 or BRCA2 (185delAG or 5382insC in BRCA1 and 6174delT in BRCA2). In a recent population based study, 29% of Jewish women with ovarian cancer were s...
E pidemiological data suggest that 7% of breast cancer cases and 10% of ovarian cancer cases in the general population are attributable to one or more autosomal dominant susceptibility alleles. The breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 were isolated in 1994 and 1995, 4 respectively, and since then, a large volume of literature attests to the involvement of these genes i...
A ffected individuals from 431 families gave blood for mutational analysis in BRCA1 and BRCA2 mainly to develop genetic tests for their family. Individuals were eligible if there was at least a 50% chance of a gene predisposing to breast cancer (not necessarily BRCA1/2) in their family. Assessment was made using the Cancer and Steroid Hormone (CASH) dataset and the Claus curves. 2 A minimal req...
A ffected individuals from 431 families gave blood for mutational analysis in BRCA1 and BRCA2 mainly to develop genetic tests for their family. Individuals were eligible if there was at least a 50% chance of a gene predisposing to breast cancer (not necessarily BRCA1/2) in their family. Assessment was made using the Cancer and Steroid Hormone (CASH) dataset and the Claus curves. 2 A minimal req...
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