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zadetkov: 81
1.
  • Cancer Risks for BRCA1 and ... Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
    MAVADDAT, Nasim; PEOCK, Susan; DAVIDSON, Rosemarie ... JNCI : Journal of the National Cancer Institute, 06/2013, Letnik: 105, Številka: 11
    Journal Article
    Recenzirano
    Odprti dostop

    Reliable estimates of cancer risk are critical for guiding management of BRCA1 and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for breast cancer, ovarian ...
Celotno besedilo
Dostopno za: UL

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2.
  • Prostate Cancer Risks for M... Prostate Cancer Risks for Male BRCA1▪ and BRCA2 Mutation Carriers: A Prospective Cohort Study
    Nyberg, Tommy; Frost, Debra; Barrowdale, Daniel ... European urology, January 2020, 2020-01-00, 20200101, Letnik: 77, Številka: 1
    Journal Article
    Recenzirano
    Odprti dostop

    BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. To estimate relative and ...
Celotno besedilo
Dostopno za: UL

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3.
  • Germline BRCA Mutations Are... Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer
    CASTRO, Elena; GOH, Chee; SAWYER, Emma ... Journal of clinical oncology, 05/2013, Letnik: 31, Številka: 14
    Journal Article
    Recenzirano
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    To analyze the baseline clinicopathologic characteristics of prostate tumors with germline BRCA1 and BRCA2 (BRCA1/2) mutations and the prognostic value of those mutations on prostate cancer (PCa) ...
Celotno besedilo
Dostopno za: UL

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4.
  • Germline mutations in RAD51... Germline mutations in RAD51D confer susceptibility to ovarian cancer
    Rahman, Nazneen; Loveday, Chey; Turnbull, Clare ... Nature genetics, 09/2011, Letnik: 43, Številka: 9
    Journal Article
    Recenzirano
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    Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight ...
Celotno besedilo
Dostopno za: UL

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5.
  • Cantú syndrome: report of nine new cases and expansion of the clinical phenotype
    Scurr, Ingrid; Wilson, Louise; Lees, Melissa ... American journal of medical genetics. Part A, March 2011, Letnik: 155A, Številka: 3
    Journal Article
    Recenzirano

    Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú. Twenty-three cases of ...
Celotno besedilo
Dostopno za: UL

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6.
  • Value of the loss of hetero... Value of the loss of heterozygosity to BRCA1 variant classification
    Santana Dos Santos, Elizabeth; Spurdle, Amanda B; Carraro, Dirce M ... NPJ breast cancer, 01/2022, Letnik: 8, Številka: 1
    Journal Article
    Recenzirano
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    At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. ...
Celotno besedilo
Dostopno za: UL

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7.
  • A Chromosomal Deletion Map ... A Chromosomal Deletion Map of Human Malformations
    Brewer, Carole; Holloway, Susan; Zawalnyski, Paul ... American journal of human genetics, 10/1998, Letnik: 63, Številka: 4
    Journal Article
    Recenzirano
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    Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific ...
Celotno besedilo
Dostopno za: UL

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8.
  • A Chromosomal Duplication M... A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans
    Brewer, Carole; Holloway, Susan; Zawalnyski, Paul ... American journal of human genetics, 06/1999, Letnik: 64, Številka: 6
    Journal Article
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    The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 ...
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Dostopno za: UL

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9.
  • Effect of BRCA Mutations on... Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
    Castro, Elena; Goh, Chee; Leongamornlert, Daniel ... European urology, 08/2015, Letnik: 68, Številka: 2
    Journal Article
    Recenzirano

    Abstract Background Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. ...
Celotno besedilo
Dostopno za: UL
10.
  • Cancer prevention with aspi... Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial
    Burn, John; Sheth, Harsh; Elliott, Faye ... The Lancet, 06/2020, Letnik: 395, Številka: 10240
    Journal Article
    Recenzirano
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    Lynch syndrome is associated with an increased risk of colorectal cancer and with a broader spectrum of cancers, especially endometrial cancer. In 2011, our group reported long-term cancer outcomes ...
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Dostopno za: UL

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zadetkov: 81

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