Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Conclusion: These results provide the actual percentage of family or personal history of cancer that can be attributed to pathogenic or likely pathogenic variants in one or more of the genes on our panel and corroborate the utility of multi-gene panels over sequential testing to identify individuals with an inherited predisposition to cancer. PMID: 29308099 [PubMed]
Source: Clinical Breast Cancer - Category: Cancer & Oncology Authors: Tags: Hered Cancer Clin Pract Source Type: research

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We report the frequency of pathogenic variants identified among individuals with ovarian cancer undergoing clinical genetic testing via a multi-gene hereditary cancer panel. METHODS: Genetic testing of up to 32 genes using a hereditary cancer panel was performed on 4439 ovarian cancer cases, and results were analyzed for frequency of pathogenic variants. Statistical comparisons were made using t-tests and Fisher's exact tests. RESULTS: The positive yield was 13.2%. While BRCA1/2 pathogenic variants were most frequent, one third (33.7%) of positive findings were in other homologous recombination genes, and account...
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
Abstract Choosing the optimal therapy for a patient's cancer has long been based on whether the cancer demonstrates a predictive marker of efficacy. The U.S. Food and Drug Administration (FDA) has now approved use of a targeted therapy based solely on tumor molecular markers (pembrolizumab for tumors with deficient mismatch repair [MMR] and high microsatellite instability [MSI]) and approved another therapy based solely on a germline mutation as the predictive marker of benefit (olaparib for BRCA carriers with ovarian or breast cancer) [New Engl J Med 2017;377:1409-1412, N Engl J Med 2012;366:1382-1392, N Eng J Me...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
Authors: Suh DH, Kim M, Lee KH, Eom KY, Kjeldsen MK, Mirza MR, Kim JW Abstract In 2017, 10 topics were selected as major clinical research advances in gynecologic oncology. For cervical cancer, efficacy and safety analysis results of a 9-valent human papillomavirus (HPV) vaccine and long-term impact of reduced dose of quadrivalent vaccine were updated. Brief introduction of KEYNOTE trials of pembrolizumab, a monoclonal antibody that blocks the interaction between programmed death (PD)-1 and its ligands, PD-L1 and PD-L2, followed. Tailored surveillance programs for gynecologic cancer related with Lynch syndrome and ...
Source: Journal of Gynecologic Oncology - Category: OBGYN Tags: J Gynecol Oncol Source Type: research
• In a large cohort of individuals at risk for a hereditary cancer syndrome, 6.7% were identified with one or more pathogenic variants.• The largest proportion of findings were in BRCA1 and BRCA2 (42.2%), followed by additional breast cancer-risk genes (32.9%), the Lynch syndrome genes (13.2%), and ovarian cancer-risk genes (6.8%).• Depending on the gene group, 1.3%-56.8% of clinically significant findings were “unexpected” in the context of the individual's personal and family cancer history and would likely have been missed by single-syndrome or single-cancer testing.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Conclusions: In this study, we were able to show that the newly designed questionnaire is a useful tool for evaluating cancer family history along with Society of Gynecologic Oncology criteria or Amsterdam criteria II. When considering the risk of Lynch syndrome for a patient with ovarian cancer, it is important to collect a second and third relative's family history. PMID: 28334914 [PubMed - as supplied by publisher]
Source: Clinical Breast Cancer - Category: Cancer & Oncology Authors: Tags: Jpn J Clin Oncol Source Type: research
Conclusions: The present study is the first to investigate PTEN protein loss in a large set of non-familial breast carcinomas based on their DNA MMR status by IHC. Here, we demonstrated that PTEN strong and homogeneous expression by IHC is able to capture the vast majority of MMR-proficient non-familial breast cancers. Our findings broaden the understanding of the biology underpinning these tumors, suggesting that PTEN is likely play a role in the development of MMR alterations. Given that PTEN-defective breast cancers have the propensity to develop additional somatic alterations in the MMR system, our results suggest that...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Poster Session Abstracts Source Type: research
ConclusionChanging indications and increased participation by a genetic consultant in the weekly MDT meeting has led to increasing genetic referrals over the last five years. Follow up of referrals needs to be addressed. With decreasing costs of genetic testing and use of readily transportable DNA collected through saliva or mouth swabs, we propose that distance should not be a barrier to this model being extended to all centres providing care to gynaecological cancer patients.
Source: The Australian and New Zealand Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: Original Article Source Type: research
Conclusions Our finding suggests that testing for MMR genes may be of benefit to BRCA1/2 negative families with overlapping HBOC and LS phenotype in Pakistan. It is clinically significant to identify individuals harboring mutations in genes linked with a particular syndrome so that they can benefit from targeted life-saving cancer surveillance and preventive strategies.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Conclusions Our finding suggests that testing for MMR genes may be of benefit to BRCA1/2 negative families with overlapping HBOC and LS phenotype in Pakistan. It is clinically significant to identify individuals harboring mutations in genes linked with a particular syndrome so that they can benefit from targeted life-saving cancer surveillance and preventive strategies.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Conclusion: In this multicenter prospective cohort study among a diverse group of participants undergoing 25-gene MGP testing, 11.1% of participants tested positive for a DM. Among participants testing negative for BRCA1 and BRCA2, MGP testing identified DMs in 4.3% of participants prompting clinically appropriate risk reduction recommendations and enhanced cancer surveillance. Ongoing recruitment and long-term follow-up are in progress.Citation Format: Idos GE, Kurian AW, Mcdonnell KJ, Ricker CN, Sturgeon DY, Culver JO, Lowstuter K, Hartman A-R, Allen B, Teeter C-R, Kingham KE, Koff R, Lebensohn A, Chun NM, Mills MA, Petr...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Poster Discussion Abstracts Source Type: research
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