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  1. Article: Society of Gynecologic Oncology Journal Club: Controversial conversations in gynecologic cancer - Navigating maintenance therapy for homologous recombinant proficient ovarian cancer.

    Goldsberry, Whitney N / Norquist, Barbara S / Rocconi, Rodney P / Modesitt, Susan C / Urban, Renata R

    Gynecologic oncology reports

    2022  Volume 44, Page(s) 101103

    Abstract: The Society of Gynecologic Oncology (SGO) Journal Club is an open forum to review pertinent studies relevant to controversial topics in the management of gynecologic cancers. On August 3rd, 2022, SGO hosted a Journal Club focused on the role of ... ...

    Abstract The Society of Gynecologic Oncology (SGO) Journal Club is an open forum to review pertinent studies relevant to controversial topics in the management of gynecologic cancers. On August 3rd, 2022, SGO hosted a Journal Club focused on the role of maintenance therapy for homologous recombinant proficient (HRP) patients with ovarian cancer. Navigating optimal therapies has become more complex with the emergence of new clinical trial data and the evolving understanding of how to classify ovarian cancers as HRP. Our speakers, Drs. Susan Modesitt, Barbara Norquist and Rodney Rocconi presented Gynecologic Oncology Group (GOG) 218 (Burger et al., 2011), the VITAL Trial (Rocconi et al., 2021), and the PRIMA study (Gonzalez-Martin et al., 2019). We asked our experts to discuss their opinions and interpretations on the application of these data to current clinical practice. Poll questions were presented to the audience for a pre- and post-webinar comparison (Table 1). Results of the poll questions are shown in Table 1.
    Language English
    Publishing date 2022-11-08
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2818505-5
    ISSN 2352-5789
    ISSN 2352-5789
    DOI 10.1016/j.gore.2022.101103
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.

    Bedrosian, Isabelle / Somerfield, Mark R / Achatz, Maria Isabel / Boughey, Judy C / Curigliano, Giuseppe / Friedman, Sue / Kohlmann, Wendy K / Kurian, Allison W / Laronga, Christine / Lynce, Filipa / Norquist, Barbara S / Plichta, Jennifer K / Rodriguez, Patricia / Shah, Payal D / Tischkowitz, Marc / Wood, Marie / Yadav, Siddhartha / Yao, Katherine / Robson, Mark E

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology

    2024  Volume 42, Issue 5, Page(s) 584–604

    Abstract: Purpose: To develop recommendations for germline mutation testing for patients with breast cancer.: Methods: An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus ... ...

    Abstract Purpose: To develop recommendations for germline mutation testing for patients with breast cancer.
    Methods: An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus process.
    Results: Forty-seven articles met eligibility criteria for the germline mutation testing recommendations; 18 for the genetic counseling recommendations.
    Recommendations: BRCA1
    MeSH term(s) Humans ; Female ; Breast Neoplasms/drug therapy ; Breast Neoplasms/genetics ; Breast Neoplasms/surgery ; Genetic Testing ; BRCA1 Protein/genetics ; Surgical Oncology ; BRCA2 Protein/genetics ; Neoplasm Recurrence, Local/genetics ; Germ-Line Mutation ; Risk Assessment ; Germ Cells/pathology ; Genetic Predisposition to Disease
    Chemical Substances BRCA1 protein, human ; BRCA1 Protein ; BRCA2 protein, human ; BRCA2 Protein
    Language English
    Publishing date 2024-01-04
    Publishing country United States
    Document type Systematic Review ; Journal Article
    ZDB-ID 604914-x
    ISSN 1527-7755 ; 0732-183X
    ISSN (online) 1527-7755
    ISSN 0732-183X
    DOI 10.1200/JCO.23.02225
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1847: Show issues Location:
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    Zs.MO 650: Show issues

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  3. Article ; Online: Evaluation of Intraoperative Assessments in the Management of Endometrial Carcinoma: A Retrospective Quality Assurance Review.

    Strickland, Sarah V / Rendi, Mara H / Garcia, Rochelle L / Norquist, Barbara S / Pennington, Kathryn P / Kilgore, Mark R

    International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists

    2018  Volume 37, Issue 5, Page(s) 414–420

    Abstract: Intraoperative assessment (IA) of uteri is often used to help determine whether to perform lymphadenectomy in patients with endometrial carcinoma. We sought to perform a quality assurance review of the practice of IA at our institution. In a 1-yr period, ...

    Abstract Intraoperative assessment (IA) of uteri is often used to help determine whether to perform lymphadenectomy in patients with endometrial carcinoma. We sought to perform a quality assurance review of the practice of IA at our institution. In a 1-yr period, 107 hysterectomies had an IA performed. Grade of neoplasm in preoperative endometrial biopsy, neoplasm size, depth of myometrial invasion at IA, operative management, and final histologic features were recorded. Operative reports were reviewed to assess the surgeon's interpretation of the IA and the effect on surgical management. The sensitivity and specificity for IA of deep myometrial invasion (>50% myometrial thickness) compared with final histology was 76.9% and 91.1%. The positive predictive value was 71.4%, negative predictive value 93.2% and accuracy 88%. Neoplasm size was provided in 47% of cases. In 10% of patients lymphadenectomy was performed despite low-risk features. IA results were included in the operative report in 87% of cases. There were differences in 8.4% of cases between the IA diagnosis and the surgeon's operative report. IA of deep myometrial invasion is reliable at our institution. Several metrics for quality improvement have been identified as a result of this retrospective review. These include but are not limited to more reliable reporting of neoplasm size, documentation, and communication with gynecologic oncologists.
    MeSH term(s) Cohort Studies ; Electronic Health Records ; Endometrial Neoplasms/pathology ; Endometrial Neoplasms/surgery ; Female ; Humans ; Hysterectomy ; Intraoperative Period ; Myometrium/pathology ; Myometrium/surgery ; Neoplasm Invasiveness ; Pathologists ; Quality Assurance, Health Care/standards ; Retrospective Studies ; Sensitivity and Specificity ; Surgeons ; Uterine Cervical Neoplasms/pathology ; Uterine Cervical Neoplasms/surgery ; Uterus/pathology ; Uterus/surgery
    Language English
    Publishing date 2018-08-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604859-6
    ISSN 1538-7151 ; 0277-1691
    ISSN (online) 1538-7151
    ISSN 0277-1691
    DOI 10.1097/PGP.0000000000000445
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1814: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  4. Article ; Online: Characterization of splice-altering mutations in inherited predisposition to cancer.

    Casadei, Silvia / Gulsuner, Suleyman / Shirts, Brian H / Mandell, Jessica B / Kortbawi, Hannah M / Norquist, Barbara S / Swisher, Elizabeth M / Lee, Ming K / Goldberg, Yael / O'Connor, Robert / Tan, Zheng / Pritchard, Colin C / King, Mary-Claire / Walsh, Tom

    Proceedings of the National Academy of Sciences of the United States of America

    2019  Volume 116, Issue 52, Page(s) 26798–26807

    Abstract: Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing. Such mutations can be difficult to detect, and their effects difficult to characterize, because many lie deep within exons or introns where they may alter ... ...

    Abstract Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing. Such mutations can be difficult to detect, and their effects difficult to characterize, because many lie deep within exons or introns where they may alter splice enhancers or silencers or introduce new splice acceptors or donors. Multiple mutation-specific and genome-wide approaches have been developed to evaluate these classes of mutations. We introduce a complementary experimental approach, cBROCA, which yields qualitative and quantitative assessments of the effects of genomic mutations on transcriptional splicing of tumor suppressor genes. cBROCA analysis is undertaken by deriving complementary DNA (cDNA) from puromycin-treated patient lymphoblasts, hybridizing the cDNA to the BROCA panel of tumor suppressor genes, and then multiplex sequencing to very high coverage. At each splice junction suggested by split sequencing reads, read depths of test and control samples are compared. Significant Z scores indicate altered transcripts, over and above naturally occurring minor transcripts, and comparisons of read depths indicate relative abundances of mutant and normal transcripts. BROCA analysis of genomic DNA suggested 120 rare mutations from 150 families with cancers of the breast, ovary, uterus, or colon, in >600 informative genotyped relatives. cBROCA analysis of their transcripts revealed a wide variety of consequences of abnormal splicing in tumor suppressor genes, including whole or partial exon skipping, exonification of intronic sequence, loss or gain of exonic and intronic splicing enhancers and silencers, complete intron retention, hypomorphic alleles, and combinations of these alterations. Combined with pedigree analysis, cBROCA sequencing contributes to understanding the clinical consequences of rare inherited mutations.
    Language English
    Publishing date 2019-12-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.1915608116
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1148: Show issues Location:
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  5. Article ; Online: NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

    Daly, Mary B / Pal, Tuya / Maxwell, Kara N / Churpek, Jane / Kohlmann, Wendy / AlHilli, Zahraa / Arun, Banu / Buys, Saundra S / Cheng, Heather / Domchek, Susan M / Friedman, Susan / Giri, Veda / Goggins, Michael / Hagemann, Andrea / Hendrix, Ashley / Hutton, Mollie L / Karlan, Beth Y / Kassem, Nawal / Khan, Seema /
    Khoury, Katia / Kurian, Allison W / Laronga, Christine / Mak, Julie S / Mansour, John / McDonnell, Kevin / Menendez, Carolyn S / Merajver, Sofia D / Norquist, Barbara S / Offit, Kenneth / Rash, Dominique / Reiser, Gwen / Senter-Jamieson, Leigha / Shannon, Kristen Mahoney / Visvanathan, Kala / Welborn, Jeanna / Wick, Myra J / Wood, Marie / Yurgelun, Matthew B / Dwyer, Mary A / Darlow, Susan D

    Journal of the National Comprehensive Cancer Network : JNCCN

    2023  Volume 21, Issue 10, Page(s) 1000–1010

    Abstract: The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate ... ...

    Abstract The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.
    MeSH term(s) Male ; Female ; Humans ; Germ-Line Mutation ; Genetic Testing ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Genetic Predisposition to Disease ; Risk Factors ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics
    Language English
    Publishing date 2023-10-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2250759-0
    ISSN 1540-1413 ; 1540-1405
    ISSN (online) 1540-1413
    ISSN 1540-1405
    DOI 10.6004/jnccn.2023.0051
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6365: Show issues Location:
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  6. Article ; Online: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

    Daly, Mary B / Pal, Tuya / Berry, Michael P / Buys, Saundra S / Dickson, Patricia / Domchek, Susan M / Elkhanany, Ahmed / Friedman, Susan / Goggins, Michael / Hutton, Mollie L / Karlan, Beth Y / Khan, Seema / Klein, Catherine / Kohlmann, Wendy / Kurian, Allison W / Laronga, Christine / Litton, Jennifer K / Mak, Julie S / Menendez, Carolyn S /
    Merajver, Sofia D / Norquist, Barbara S / Offit, Kenneth / Pederson, Holly J / Reiser, Gwen / Senter-Jamieson, Leigha / Shannon, Kristen Mahoney / Shatsky, Rebecca / Visvanathan, Kala / Weitzel, Jeffrey N / Wick, Myra J / Wisinski, Kari B / Yurgelun, Matthew B / Darlow, Susan D / Dwyer, Mary A

    Journal of the National Comprehensive Cancer Network : JNCCN

    2021  Volume 19, Issue 1, Page(s) 77–102

    Abstract: The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and ... ...

    Abstract The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.
    MeSH term(s) Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Mutation ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics ; Pancreatic Neoplasms/diagnosis ; Pancreatic Neoplasms/genetics
    Language English
    Publishing date 2021-01-06
    Publishing country United States
    Document type Journal Article ; Practice Guideline
    ZDB-ID 2250759-0
    ISSN 1540-1413 ; 1540-1405
    ISSN (online) 1540-1413
    ISSN 1540-1405
    DOI 10.6004/jnccn.2021.0001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.

    Daly, Mary B / Pilarski, Robert / Yurgelun, Matthew B / Berry, Michael P / Buys, Saundra S / Dickson, Patricia / Domchek, Susan M / Elkhanany, Ahmed / Friedman, Susan / Garber, Judy E / Goggins, Michael / Hutton, Mollie L / Khan, Seema / Klein, Catherine / Kohlmann, Wendy / Kurian, Allison W / Laronga, Christine / Litton, Jennifer K / Mak, Julie S /
    Menendez, Carolyn S / Merajver, Sofia D / Norquist, Barbara S / Offit, Kenneth / Pal, Tuya / Pederson, Holly J / Reiser, Gwen / Shannon, Kristen Mahoney / Visvanathan, Kala / Weitzel, Jeffrey N / Wick, Myra J / Wisinski, Kari B / Dwyer, Mary A / Darlow, Susan D

    Journal of the National Comprehensive Cancer Network : JNCCN

    2020  Volume 18, Issue 4, Page(s) 380–391

    Abstract: The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations for genetic testing and counseling for hereditary cancer syndromes, and risk management recommendations for patients who are diagnosed ... ...

    Abstract The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations for genetic testing and counseling for hereditary cancer syndromes, and risk management recommendations for patients who are diagnosed with syndromes associated with an increased risk of these cancers. The NCCN panel meets at least annually to review comments, examine relevant new data, and reevaluate and update recommendations. These NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genes associated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.
    MeSH term(s) Biomarkers, Tumor ; Female ; Genetic Association Studies ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics ; Pancreatic Neoplasms/diagnosis ; Pancreatic Neoplasms/genetics ; Penetrance ; Pancreatic Neoplasms
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2020-04-03
    Publishing country United States
    Document type Journal Article ; Practice Guideline ; Research Support, Non-U.S. Gov't
    ZDB-ID 2250759-0
    ISSN 1540-1413 ; 1540-1405
    ISSN (online) 1540-1413
    ISSN 1540-1405
    DOI 10.6004/jnccn.2020.0017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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