Home - News ( United States | United Kingdom | Italy | Germany ) - Football scores

Showing content from https://www.ncbi.nlm.nih.gov/pubmed/24733792 below:

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

Affiliations

• ¹ Allison W. Kurian, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, James M. Ford, Stanford University School of Medicine, Stanford; Emily E. Hare, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, InVitae, San Francisco, CA.
• ² Allison W. Kurian, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, James M. Ford, Stanford University School of Medicine, Stanford; Emily E. Hare, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, InVitae, San Francisco, CA. jmf@stanford.edu.

• PMID: 24733792
• PMCID: PMC4067941
• DOI: 10.1200/JCO.2013.53.6607

Item in Clipboard

Allison W Kurian et al. J Clin Oncol. 2014.

• ¹ Allison W. Kurian, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, James M. Ford, Stanford University School of Medicine, Stanford; Emily E. Hare, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, InVitae, San Francisco, CA.
• ² Allison W. Kurian, Meredith A. Mills, Kerry E. Kingham, Lisa McPherson, Alice S. Whittemore, Valerie McGuire, Uri Ladabaum, James M. Ford, Stanford University School of Medicine, Stanford; Emily E. Hare, Yuya Kobayashi, Stephen E. Lincoln, Michele Cargill, InVitae, San Francisco, CA. jmf@stanford.edu.

• PMID: 24733792
• PMCID: PMC4067941
• DOI: 10.1200/JCO.2013.53.6607

Item in Clipboard

Purpose: Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample.

Methods: Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample. Samples were frozen at -80° C, and DNA was extracted from them after 1 to 10 years. The entire coding region, exon-intron boundaries, and all known pathogenic variants in other regions were sequenced for 42 genes that had cancer risk associations. Potentially actionable results were disclosed to participants.

Results: In total, 198 women participated in the study: 174 had breast cancer and 57 carried germline BRCA1/2 mutations. BRCA1/2 analysis was fully concordant with prior testing. Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations. Fourteen participants carried 15 pathogenic variants, warranting a possible change in care; they were invited for targeted screening recommendations, enabling early detection and removal of a tubular adenoma by colonoscopy. Participants carried an average of 2.1 variants of uncertain significance among 42 genes.

Conclusion: Among women testing negative for BRCA1/2 mutations, multiple-gene sequencing identified 16 potentially pathogenic mutations in other genes (11.4%; 95% CI, 7.0% to 17.7%), of which 15 (10.6%; 95% CI, 6.5% to 16.9%) prompted consideration of a change in care, enabling early detection of a precancerous colon polyp. Additional studies are required to quantify the penetrance of identified mutations and determine clinical utility. However, these results suggest that multiple-gene sequencing may benefit appropriately selected patients.

© 2014 by American Society of Clinical Oncology.

PubMed Disclaimer

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

(A) Frequency of variants of…

(A) Frequency of variants of uncertain significance, per participant, across 42 sequenced genes.…

(A) Frequency of variants of uncertain significance, per participant, across 42 sequenced genes. (B) Variants of uncertain significance (VUS) count, per gene, across 198 participants.

(A) Frequency of variants of…

(A) Frequency of variants of uncertain significance, per participant, across 42 sequenced genes.…

(A) Frequency of variants of uncertain significance, per participant, across 42 sequenced genes. (B) Variants of uncertain significance (VUS) count, per gene, across 198 participants.

Pathogenic variant interpretation, participant notification,…

Pathogenic variant interpretation, participant notification, and clinical follow-up.

Pathogenic variant interpretation, participant notification, and clinical follow-up.

• Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

  Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M. Akter H, et al. BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0. BMC Med Genet. 2019. PMID: 31477031 Free PMC article.

• Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

  Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I, Li Y, Hawley ST, Morrow M, Jagsi R, Katz SJ. Kurian AW, et al. JAMA Oncol. 2018 Aug 1;4(8):1066-1072. doi: 10.1001/jamaoncol.2018.0644. JAMA Oncol. 2018. PMID: 29801090 Free PMC article.

• Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

  Catts ZA, Baig MK, Milewski B, Keywan C, Guarino M, Petrelli N. Catts ZA, et al. Ann Surg Oncol. 2016 May;23(5):1729-35. doi: 10.1245/s10434-015-5026-x. Epub 2016 Jan 4. Ann Surg Oncol. 2016. PMID: 26727920

• Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

  Machackova E, Claes K, Mikova M, Házová J, Sťahlová EH, Vasickova P, Trbusek M, Navrátilová M, Svoboda M, Foretová L. Machackova E, et al. Klin Onkol. 2019 Summer;32(Supplementum2):51-71. doi: 10.14735/amko2019S51. Klin Onkol. 2019. PMID: 31409081 Review. English.

• Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

  van Marcke C, De Leener A, Berlière M, Vikkula M, Duhoux FP. van Marcke C, et al. Crit Rev Oncol Hematol. 2016 Dec;108:33-39. doi: 10.1016/j.critrevonc.2016.10.008. Epub 2016 Oct 29. Crit Rev Oncol Hematol. 2016. PMID: 27931838 Review.

• Hereditary variants of unknown significance in African American women with breast cancer.

  McDonald JT, Ricks-Santi LJ. McDonald JT, et al. PLoS One. 2022 Oct 31;17(10):e0273835. doi: 10.1371/journal.pone.0273835. eCollection 2022. PLoS One. 2022. PMID: 36315513 Free PMC article.

• Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

  Ryu JS, Lee HY, Cho EH, Yoon KA, Kim MK, Joo J, Lee ES, Kang HS, Lee S, Lee DO, Lim MC, Kong SY. Ryu JS, et al. Cancer Sci. 2020 Oct;111(10):3912-3925. doi: 10.1111/cas.14600. Epub 2020 Sep 2. Cancer Sci. 2020. PMID: 32761968 Free PMC article.

• Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

  Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS. Foley SB, et al. EBioMedicine. 2015 Jan;2(1):74-81. doi: 10.1016/j.ebiom.2014.12.003. EBioMedicine. 2015. PMID: 26023681 Free PMC article.

• Molecular Diagnostics in Clinical Oncology.

  Sokolenko AP, Imyanitov EN. Sokolenko AP, et al. Front Mol Biosci. 2018 Aug 27;5:76. doi: 10.3389/fmolb.2018.00076. eCollection 2018. Front Mol Biosci. 2018. PMID: 30211169 Free PMC article. Review.

• Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

  Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R. Polla DL, et al. PLoS One. 2015 Sep 18;10(9):e0138314. doi: 10.1371/journal.pone.0138314. eCollection 2015. PLoS One. 2015. PMID: 26380986 Free PMC article.

1. 1. Burt RW, Cannon JA, David DS, et al. Colorectal Cancer Screening, National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology, 2013. http://www.nccn.org.
2. 1. Daly M. Genetic/Familial High-Risk Assessment: Breast and Ovarian, National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology, 2013. http://www.nccn.org. - PubMed
3. 1. Daly MB, Axilbund JE, Buys S, et al. Genetic/familial high-risk assessment: Breast and ovarian. J Natl Compr Canc Netw. 2010;8:562–594. - PubMed
4. 1. Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis. Ann Intern Med. 2011;155:69–79. - PMC - PubMed
5. 1. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967–975. - PMC - PubMed

RetroSearch is an open source project built by @garambo | Open a GitHub Issue

Search and Browse the WWW like it's 1997 | Search results from DuckDuckGo

HTML: 3.2 | Encoding: UTF-8 | Version: 0.7.3