Search Results - "Levin, Brooke"
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WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
Published in Nature communications (07-06-2017)“…Human WNT10A mutations are associated with developmental tooth abnormalities and adolescent onset of a broad range of ectodermal defects. Here we show that…”
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A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes
Published in Cancer medicine (Malden, MA) (01-02-2023)“…Background Clinical interpretation of genetic test results is complicated by variants of uncertain significance (VUS) that have an unknown impact on health but…”
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A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome
Published in Gynecologic oncology reports (01-02-2019)“…Ovarian endometrioid adenocarcinoma with yolk sac component has been reported in fewer than twenty cases in the literature. A majority of the diagnoses are…”
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MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature
Published in Journal of genetic counseling (01-10-2016)“…The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the…”
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Single-center comparison of cancer genetics referral rates for patients with pancreatic cancer following implementation of a best practice advisory: A quality improvement project
Published in Journal of clinical oncology (01-10-2022)“…311 Background: Despite guidelines recommending germline genetic testing (GT) and genetic counseling for individuals with pancreatic ductal adenocarcinoma…”
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Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes
Published in Cancer (01-10-2022)“…Background Use of surveillance mammography and magnetic resonance imaging (MRI) has been understudied among women with variant of uncertain significance (VUS)…”
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Uptake of cancer risk management strategies among women who undergo cascade genetic testing for breast cancer susceptibility genes
Published in Cancer (01-10-2021)“…Background Uptake of cancer risk management based on inherited predispositions, which encompasses bilateral mastectomy (BLM), bilateral salpingo‐oophorectomy…”
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A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian, and colorectal cancer susceptibility genes
Published in Journal of clinical oncology (01-06-2022)“…10512 Background: Up to 10% of all cancers are attributable to germline mutations and identifying mutation carriers is critical for cancer prevention. Clinical…”
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A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Published in Cancer research (Chicago, Ill.) (01-09-2020)“…Germline mutations in cause a rare high penetrance cancer syndrome, Li-Fraumeni syndrome (LFS). Here, we identified a rare tetramerization domain missense…”
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Abstract P6-02-04: Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes
Published in Cancer research (Chicago, Ill.) (01-03-2023)“…Abstract Background: Surveillance is a fundamental tool in the early detection and secondary prevention of many cancers. For women at increased genetic risk of…”
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Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems
Published in Gynecologic oncology (01-05-2023)“…A quality improvement initiative (QII) was conducted with five community-based health systems' oncology care centers (sites A–E). The QII aimed to increase…”
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Implementation and outcome evaluations of a multi‐site improvement program in cancer genetics
Published in Journal of genetic counseling (01-02-2023)“…Program evaluation can identify the successes and challenges of implementing clinical programs, which can inform future dissemination efforts. A cancer…”
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eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Success of referral to genetic counseling after positive lynch syndrome screening test
Published in International journal of colorectal disease (01-09-2017)“…Purpose Lynch syndrome (LS) is a hereditary condition that increases one’s risk of developing colorectal, endometrial, and other extracolonic cancers. MD…”
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A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome
Published in Gynecologic oncology reports (01-02-2019)Get full text
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