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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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• 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
Conclusion: Constitutional mosaic mutations may be an under-recognized cause of cancer and unique clinical considerations apply to such cases. First, a mosaic patient may not show the same gene-associated phenotypes as patients with inherited heterozygous mutations in the same gene. Second, patients with syndromic presentations who tested negative for the indicated gene(s) by traditional methodologies may warrant reexamination by NGS. Similarly, patients with heterozygous mutations (50-50) may have a mosaic parent, for whom the mutation could be missed by traditional testing. Testing of family members beyond first degree r...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Poster Session Abstracts Source Type: research
In the years since the discovery of BRCA1 and BRCA2, researchers have extended our understanding of the genetic architecture of breast cancer risk. Breast cancer has been described as a component tumor or a number of high penetrance autosomal dominant predisposition syndromes, such as Li-Fraumeni, Cowden Syndrome, Hereditary Diffuse Gastric Cancer, Peutz-Jeghers Syndrome, and possibly Lynch Syndrome. These are rare, but have clear clinical relevance once identified. At the other end of the spectrum, a series of genome-wide association studies (GWAS) identified over 80 common variants (SNPs) associated with breast cancer ri...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Invited Speaker Abstracts Source Type: research
Ovarian cancer is always the bridesmaid, never the bride. At weddings, there’s a reason we focus on the bride. It’s her big event. She’s the center of attention, and rightly so. But sometimes, the bridesmaid’s speech has more to tell us — and we should listen. We hear a lot about breast cancer. It affects a quarter of a million women and is fatal 15 to 20 percent of the time. Breast cancer is a serious and important disease that merits the time, money, and resources we spend on funding and public awareness each year. But what do you know about ovarian cancer, a disease with a fatality rate of ...
Source: Disruptive Women in Health Care - Category: Consumer Health News Authors: Tags: Access Cancer Women Veterans Source Type: blogs
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