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  • BRCA Gene Changes: Cancer Risk and Genetic Testing
    BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA Everyone has two copies of each of these genes—one copy inherited from each parent People who inherit a harmful change (also called a mutation or pathogenic variant) in one of these genes have increased risks of several cancers—most notably breast and ovarian cancer
  • BRCA1 and BRCA2 (PDQ®) - NCI - National Cancer Institute
    BRCA1 2 pathogenic variants are not currently associated with genetic anticipation, despite suggestive findings from a few studies [13-15] BRCA1 2 founder pathogenic variants The same pathogenic variant can be found in multiple unrelated families due to the founder effect (a pathogenic variant identified in a contemporary population that can be traced to a small group of founders isolated by
  • Oral Contraceptives (Birth Control Pills) and Cancer Risk
    A reduction in ovarian cancer risk with use of oral contraceptives is also seen among women who carry a harmful mutation in the BRCA1 or BRCA2 gene (19–21) Colorectal cancer: Oral contraceptive use is associated with 15% to 20% lower risks of colorectal cancer (12, 14, 22, 23)
  • Cancer Risk for Women Carrying BRCA Mutations - NCI
    An international team of researchers has published results from the first large prospective study of breast and ovarian cancer risk in women who carry inherited BRCA mutations The BRCA1 and BRCA2 genes code for proteins that are critical for cells to repair damaged DNA Specific inherited mutations in these genes increase the risk of several cancer types, particularly breast and ovarian cancer
  • Surgery to Reduce the Risk of Breast Cancer Fact Sheet
    Yes Risk-reducing (also called preventive or prophylactic) surgery can lower the risk of breast cancer in people who are at very high risk, such as women who carry a harmful mutation in a breast cancer susceptibility gene such as BRCA1, BRCA2, TP53, or PTEN The main type of surgery to reduce breast cancer risk is the removal of both breasts, called bilateral risk-reducing mastectomy (or
  • Genetic Testing Fact Sheet - NCI - National Cancer Institute
    Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, or variant of uncertain significance (VUS) Positive result A positive test result means that the laboratory found a genetic change that is associated with an increased cancer risk Such harmful genetic changes are called pathogenic or likely pathogenic variants
  • PALB2 and Associated Cancer Risks (PDQ®) - NCI
    The PALB2 (Partner And Localizer of BRCA2) gene is located on chromosome 16p12 2 This gene interacts with both BRCA2 and BRCA1 to restore and maintain genomic stability via homologous recombination repair of DNA double-stranded breaks Several studies have reported a high penetrance of breast cancer in women who carry PALB2 pathogenic variants PALB2 is now included on all breast cancer
  • Breast Cancer Risk Assessment Tool: Online Calculator - NCI
    The Breast Cancer Risk Assessment Tool (BCRAT), also known as The Gail Model, allows health professionals to estimate a woman's risk of developing invasive breast cancer over the next five years and up to age 90 (lifetime risk) The tool uses a woman's personal medical and reproductive history and the history of breast cancer among her first-degree relatives (mother, sisters, daughters) to
  • Researchers categorize thousands of BRCA2 mutations as cancerous or . . .
    A team of researchers led by Shyam K Sharan, Ph D , Senior Investigator in the Mouse Cancer Genetics Program, has categorized over 6,500 possible single nucleotide variants (SNVs) in the BRCA2 protein as either benign or potentially cancerous The study was published in Nature on February 13, 2025 BRCA2 is a protein that is involved in repairing DNA and maintaining the integrity of the





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