Search Results - "Chun, Nicolette"
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Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk
Published in Genetics in medicine (01-02-2018)“…Purpose We examined racial/ethnic differences in the usage and results of germ-line multiple-gene sequencing (MGS) panels to evaluate hereditary cancer risk…”
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Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients
Published in Cancer (15-04-2021)“…Background Little is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with…”
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3
Clinical implications of conflicting variant interpretations in the cancer genetics clinic
Published in Genetics in medicine (01-07-2023)“…The aim of this study was to describe the clinical impact of commercial laboratories issuing conflicting classifications of genetic variants. Results from 2000…”
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Parent decision‐making around the genetic testing of children for germline TP53 mutations
Published in Cancer (15-01-2015)“…BACKGROUND Li‐Fraumeni syndrome is a rare genetic cancer predisposition syndrome caused by germline TP53 mutations. Up to 20% of mutation carriers develop…”
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Patient communication of cancer genetic test results in a diverse population
Published in Translational behavioral medicine (29-01-2018)“…Patients with mutations in cancer risk genes from diverse ethnic and social backgrounds mostly all shared their genetic test results with family members…”
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Performance of BRCA1/2 Mutation Prediction Models in Asian Americans
Published in Journal of clinical oncology (10-10-2008)“…There are established differences in breast cancer epidemiology between Asian and white individuals, but little is known about hereditary breast cancer in…”
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Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation
Published in Human pathology (01-08-2010)“…Summary Our patient was a 52-year-old man who was diagnosed with signet ring cell gastric adenocarcinoma. An extensive family history of gastric cancer raised…”
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Ductal Lavage of Fluid-Yielding and Non–Fluid-Yielding Ducts in BRCA1 and BRCA2 Mutation Carriers and Other Women at High Inherited Breast Cancer Risk
Published in Cancer epidemiology, biomarkers & prevention (01-05-2005)“…Objective: Nipple fluid production and atypical breast duct cells in women at high risk of breast cancer have been associated with further increased risk. Most…”
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Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing
Published in Cancer genetics (01-11-2022)“…•Recent guideline changes dramatically increase eligibility for germline testing among patients with somatic mutations in moderate risk breast and ovarian…”
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Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient
Published in Journal of genetic counseling (01-08-2019)“…Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous association with disease risk and lack of clinical actionability…”
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CDC73 c.1155-3A > G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression and hyperparathyroidism-jaw tumor syndrome
Published in JBMR plus (19-11-2024)“…Abstract Germline and somatic pathogenic variants in the CDC73 gene, encoding the nuclear protein parafibromin, increase the risk for parathyroid carcinoma and…”
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Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: "Okay, now what?"
Published in Journal of genetic counseling (19-03-2024)“…The limited literature on Asian family communication of hereditary cancer risk and cascade genetic testing for pathogenic variants (PVs) in BRCA1 and BRCA2 has…”
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Somatic tumor testing implications for Lynch syndrome germline genetic testing
Published in Cancer genetics (01-06-2022)“…Clinicians involved in cancer treatment often utilize somatic tumor sequencing to help tailor chemotherapy and immunotherapy. However, somatic tumor sequencing…”
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Germline Testing for Patients With BRCA1/2 Mutations on Somatic Tumor Testing
Published in JNCI cancer spectrum (01-02-2020)“…The National Comprehensive Cancer Network (NCCN) recommends germline testing for pathogenic mutations identified by somatic tumor sequencing. The aim of this…”
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Preventive surgery after multiplex genetic panel testing (MGPT)
Published in Journal of clinical oncology (20-05-2019)“…Abstract only 1525 Background: Guidelines recommend consideration of prophylactic surgery for patients with a germline pathogenic variant in some cancer…”
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Promoting colorectal cancer (CRC) screening after multiplex genetic testing and genetic counseling
Published in Journal of clinical oncology (20-05-2018)“…Abstract only…”
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Promoting breast cancer screening after multiplex genetic panel testing (MGPT) and genetic counseling
Published in Journal of clinical oncology (20-05-2018)“…Abstract only…”
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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
Published in European journal of human genetics : EJHG (01-05-2014)“…Germline mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2, and deletions affecting the EPCAM gene adjacent to MSH2, underlie Lynch syndrome…”
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Safety of multiplex gene testing for inherited cancer risk in a fully accrued prospective trial
Published in Journal of clinical oncology (20-05-2017)“…Abstract only 1576 Background: Sequencing more genes increases the chance of finding a pathogenic mutation and/or a variant of uncertain significance (VUS)…”
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Expanded yield of multiplex panel testing in fully accrued prospective trial
Published in Journal of clinical oncology (20-05-2017)“…Abstract only 1525 Background: Genetic testing is a powerful tool for stratifying cancer risk. Multiplex gene panel (MGP) testing allows simultaneous analysis…”
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