Abstract:
:The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.
journal_name
Semin Oncoljournal_title
Seminars in oncologyauthors
Capoluongo E,Ellison G,López-Guerrero JA,Penault-Llorca F,Ligtenberg MJL,Banerjee S,Singer C,Friedman E,Markiefka B,Schirmacher P,Büttner R,van Asperen CJ,Ray-Coquard I,Endris V,Kamel-Reid S,Percival N,Bryce J,Röthlisbedoi
10.1053/j.seminoncol.2017.08.004subject
Has Abstractpub_date
2017-06-01 00:00:00pages
187-197issue
3eissn
0093-7754issn
1532-8708pii
S0093-7754(17)30052-0journal_volume
44pub_type
杂志文章,评审abstract::Transport of folates and antifolates in most cells is mediated by the reduced folate carrier (RFCI), an anion exchanging concentrative process, which is opposed by independent exit pump(s) that are directly coupled to energy metabolism. The balance of these processes governs the free intracellular folate level that is...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1999-04-01 00:00:00
abstract::The purpose of this pilot study was to determine the safety and feasibility of accelerated fractionation (via concomitant boost) radiotherapy (XRT) with concurrent carboplatin/paclitaxel chemotherapy for locally advanced stage III non-small cell lung carcinoma. Radiotherapy consisted of 3-dimensional conformal techniq...
journal_title:Seminars in oncology
pub_type: 临床试验,杂志文章
doi:10.1053/j.seminoncol.2005.03.004
更新日期:2005-04-01 00:00:00
abstract::Paclitaxel (Taxol; Bristol-Myers Squibb Company, Princeton, NJ) given as a 1-hour infusion potentially offers its recipients reduced toxicity, demonstrated efficacy, and greater ease of administration. To confirm this hypothesis, we undertook a phase I/II study of 1-hour, single-agent paclitaxel in 164 patients' refra...
journal_title:Seminars in oncology
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract::Denileukin diftitox (ONTAK; Seragen Inc, San Diego, CA) is a fusion protein designed to direct the cytocidal action of diphtheria toxin to cells that overexpress the IL-2 receptor. The human IL-2 receptor exists in three isoforms: low (CD25), intermediate (CD122/CD132), and high (CD25/CD122/CD132) affinity. The high-a...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2005.12.017
更新日期:2006-02-01 00:00:00
abstract::Prostate cancer (PC) is the most prevalent malignancy in men, with 604,506 new cases diagnosed yearly worldwide. Maintaining bone health is important during all stages of PC, including patients who experience bone loss from androgen-deprivation therapy and patients who develop bone metastases. Patients with bone metas...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2010.06.007
更新日期:2010-06-01 00:00:00
abstract::The activity of single-agent paclitaxel (Taxol; Bristol-Myers Squibb Company, Princeton, NJ) has been documented in untreated and previously treated metastatic breast cancer, including both patients with anthracycline-resistant disease and those with extensive pretreatment. Such activity has prompted investigations of...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1996-02-01 00:00:00
abstract::The human tumor cloning system is an in vitro assay that has been used to predict response of patients' tumors to conventional antineoplastic agents as well as to biologic agents. In addition, the assay has been used to screen for antitumor activity of newly discovered cytotoxics and biologics. The purpose of the pres...
journal_title:Seminars in oncology
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract::The management of metastatic prostate cancer that has relapsed after initial hormonal manipulation remains a major problem, with the majority of patients dying within 12 months. Their clinical course is frequently characterized by progressive debilitation, pain, and other tumor-related symptoms. A phase II, non-random...
journal_title:Seminars in oncology
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:1996-12-01 00:00:00
abstract::Traditionally, medical oncology has focused on the active period of diagnosis, treatment and follow-up of cancer patients, and palliative medicine, the pre-terminal and end-of-life phases. Palliative medicine physicians have particular expertise in communication and symptom control, especially, for example, with pain ...
journal_title:Seminars in oncology
pub_type: 杂志文章
doi:10.1053/j.seminoncol.2011.03.021
更新日期:2011-06-01 00:00:00
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journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2004.09.018
更新日期:2004-12-01 00:00:00
abstract::Drug resistance is one of the most important problems in the treatment of cancer. Patients become resistant not only to the drugs used initially, but also those to which they have not yet been exposed. A number of factors influence the therapeutic outcome of patients with breast cancer, foremost of which is the tumor ...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1990-08-01 00:00:00
abstract::Acute lymphoblastic leukemia (ALL) 5-year survival rates are approaching 90% in children and 50% in adults who are receiving contemporary risk-directed treatment protocols. Current efforts focus not only on further improving cure rate but also on patient quality of life. Hence, all protocols decrease or limit the use ...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2009.05.002
更新日期:2009-08-01 00:00:00
abstract::Etoposide has proven to be an active agent in the treatment of a variety of neoplasms, particularly germ cell cancers and small cell lung cancer. Yet despite its widespread use, the optimal dose and schedule for etoposide remain unknown. The fact that its efficacy appears to be schedule dependent, along with the recen...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1992-12-01 00:00:00
abstract::Present status of gastric cancer surgery in Japan and several new procedures are reviewed in this article. Japanese treatment results of this disease were significantly better than Western results even when stages were adjusted. Generally speaking, Japanese surgical procedures are more aggressive and meticulous compar...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1996-06-01 00:00:00
abstract::Based on the results of several small clinical studies, the experimental data of J. T. Isaacs, and the theoretical considerations about the heterogeneity of prostatic cancer, we investigated the effect of simultaneous hormone-chemotherapy in previously untreated advanced prostatic cancer. Patients (n = 145; 117 stage ...
journal_title:Seminars in oncology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:1991-10-01 00:00:00
abstract::Testicular germ cell tumor (TGCT) is a highly heritable cancer primarily affecting young white men. Genome-wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk. These loci identified through association studies have implicated mu...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2016.08.004
更新日期:2016-10-01 00:00:00
abstract::Gastrointestinal stromal tumor (GISTs) are the most common connective tissue malignancies of the gastrointestinal (GI) tract, with an incidence on the order of 10-13 per million people per year. Primary therapy is usually surgical, but the recurrence rate of large, so-called high-risk tumors, with a high mitotic rate,...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2009.06.002
更新日期:2009-08-01 00:00:00
abstract::The heat-shock proteins (HSPs) belong to a family of ubiquitous and abundant proteins used successfully in prophylactic and therapeutic vaccination against tumors. The HSPs are natural chaperones of peptides that reflect the immunologic composition of the cell. Immunization with tumor-derived HSP-peptide complexes (HS...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1998-12-01 00:00:00
abstract::Platinum compounds have long played a role in the treatment of gynecologic cancers. Single-agent cisplatin and carboplatin have shown activity in endometrial cancer, and more recent studies have begun to investigate a variety of new platinum-based combinations. In cervical cancer, chemotherapy is used primarily to tre...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2004.11.007
更新日期:2004-12-01 00:00:00
abstract::Among the various deleterious effects of cancer chemotherapy, vascular toxicity is the least well recognized. This lack of recognition may be because the vasculotoxic phenomena are not unique to antineoplastic agents, can occur in patients without exposure to these agents, and the fact cancer itself may produce a hype...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2005.11.006
更新日期:2006-02-01 00:00:00
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journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/sonc.2002.35240
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abstract::The outcomes in young adults aged 20-39 with sarcoma tend to be inferior compared to those in children and adolescents. There are differences in sarcoma histotype distribution with age, such that pediatric-type tumors predominate in the 20- to 25-year-old group while more adult-type sarcomas occur in those aged 35-39 ...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2009.03.006
更新日期:2009-06-01 00:00:00
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journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2013.09.012
更新日期:2013-12-01 00:00:00
abstract::Over 50% of patients with gastroenteropancreatic neuroendocrine tumors (GEP-NETs) have stage IV disease at presentation and the most likely organ to be affected by metastases is the liver. Hepatic involvement and hepatic tumor burden is a key prognostic factor affecting survival of these patients and 80% eventually di...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2018.07.002
更新日期:2018-08-01 00:00:00
abstract::Maintenance therapy using rituximab is currently under consideration as a means of prolonging remission in patients with indolent non-Hodgkin's lymphoma. A phase II trial using rituximab as first-line therapy followed by maintenance treatment was carried out in patients with previously untreated indolent non-Hodgkin's...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:2004-02-01 00:00:00
abstract::Evidence published during several decades has shown that there is a group of epithelial ovarian tumors having histological and biological features between those of clearly benign and frankly malignant tumors. In 1963, FIGO accepted an intermediate group of ovarian carcinomas of low malignant potential. In 1973, WHO ad...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1998-06-01 00:00:00
abstract::Immune checkpoint molecules cytotoxic T-lymphocyte antigen-4 (CTLA-4) and programmed death-1 (PD-1), but also LAG-3 and TIM-3, are involved in regulation of peripheral tolerance in order to prevent autoimmunity. Blocking of these cell surface proteins by antibodies has resulted in remarkable anti-tumor immunity; howev...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/j.seminoncol.2015.02.011
更新日期:2015-06-01 00:00:00
abstract::Squamous cell carcinoma of the head and neck remains a clinical challenge because of the high rate of locoregional disease recurrence. The importance of the epidermal growth factor receptor (EGFR) in the development and progression of many solid tumors, including squamous cell carcinoma of the head and neck, is well u...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/sonc.2002.35644
更新日期:2002-10-01 00:00:00
abstract::The American Joint Committee on Cancer (AJCC) recently launched a new staging system for cutaneous melanoma that was based on clinical experience with a large number of patients treated in major centers worldwide. As this system includes various histopathologic parameters of the primary melanoma and of melanoma metast...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:10.1053/sonc.2002.34116
更新日期:2002-08-01 00:00:00
abstract::In a phase II Eastern Cooperative Oncology Group trial, single-agent paclitaxel (Taxol; Bristol-Myers Squibb Company, Princeton, NJ) was administered to 26 patients with advanced urothelial cancer who had not received prior systemic chemotherapy. Paclitaxel was given at a dose of 250 mg/m2 by 24-hour continuous infusi...
journal_title:Seminars in oncology
pub_type: 杂志文章,评审
doi:
更新日期:1995-06-01 00:00:00