A Man On A Mission: How One Patient Journey Can Change The Course Of A Hereditary Cancer

Lynch syndrome is a hereditary cancer estimated to affect 1 in every 279 Americans – meaning it isn’t rare. But the staggering number of those who may be carriers and not know it is what sets Lynch syndrome apart. Carriers are often diagnosed at younger ages, and develop multiple cancers over time.
Source: Forbes.com Healthcare News - Category: Pharmaceuticals Authors: Source Type: news

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ConclusionsSporadic dMMR breast cancers are extremely rare (Davies et al. in Cancer Res 77:4755 –4762, 2017). It seems reasonable to conclude that identifying a dMMR breast cancer in a patient with known LS strongly suggests that her LS is breast cancer-predisposing. LS patients with dMMR breast cancers might therefore be considered for above-average breast cancer screening for the developme nt of additional breast cancers. Also, the FDA recently granted approval of checkpoint inhibitor therapy for all metastatic dMMR solid malignancies (Lemery et al. in N Engl J Med 377:1409–1412, 2017). MMR expression assays ...
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
The province of Ontario, Canada, is considering immunohistochemical followed by cascade analyses of all patients who received a diagnosis of colorectal cancer (CRC) at an age younger than 70 years to identify individuals with Lynch syndrome. We evaluated the costs and benefits of testing for Lynch syndrome and determined the optimal surveillance interval for first-degree relatives (FDRs) found to have Lynch syndrome.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
ConclusionTo optimize targeting and visualization of the surgical field in right pelvic sidewall/paracolic gutter, robotic arms can be placed in a straight line from above the pubic symphysis extending to the left subcostal line and between the midline vertical and midclavicular lines. Robotic tumor debulking should be considered in selected patients with recurrent ovarian cancer who present with oligo-metastatic disease, in the absence of carcinomatosis.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Tougeron Tumor DNA mismatch repair (MMR) deficiency testing is important to the identification of Lynch syndrome and decision making regarding adjuvant chemotherapy in stage II colorectal cancer (CRC) and has become an indispensable test in metastatic tumors due to the high efficacy of immune checkpoint inhibitor (ICI) in deficient MMR (dMMR) tumors. CRCs greatly benefit from this testing as approximately 15% of them are dMMR but only 3% to 5% are at a metastatic stage. MMR status can be determined by two different methods, microsatellite instability (MSI) testing on tumor DNA, and immunohistochemistry of the MMR pro...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
Conditions:   Hereditary Breast Carcinoma;   Hereditary Ovarian Carcinoma;   Lynch Syndrome;   Mutation Carrier Interventions:   Behavioral: Behavioral Dietary Intervention;   Other: E-mail;   Behavioral: Exercise Intervention;   Other: Internet-Based Intervention;   Other: Questionnaire Administration;   Behavioral: Telephone-Based Intervention;   Other: Text Message Sponsors:   M.D. Anderson Cancer Center;   National Cancer Institute&...
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
AbstractBackgroundWe previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.MethodsThe Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Onlypath_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
ConclusionsRobotic resection of the tumor nodule off the external iliac vessels was successfully performed with adequate range of motion provided by the arms and without any complications.Trocar placement should be tailored to the site of surgical interest. Robotic-assisted laparoscopy should be considered as a valid alternative to the traditional open approach, when managing solitary masses in recurrent ovarian cancer patients.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Pancreatic cancer is a rare cancer that carries a poor 5 year survival rate of approximately 5% [1]. Approximately 5% to 10% of individuals with pancreatic cancer report having a closely related family member also being diagnosed with pancreatic cancer [2]. Several known genetic syndromes, such as hereditary breast-ovarian cancer syndrome (HBOC) [3], Lynch syndrome [4], familial adenomatous polyposis [5], familial atypical multiple mole melanoma syndrome [6], hereditary pancreatitis [7], Peutz-Jeghers syndrome [8], and Li-Fraumeni syndrome [9] are associated with increased risk of pancreatic cancer.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
CONCLUSIONS: Universal tumour testing strategies for guiding germline genetic testing of people with incident CRC for LS in Australia are likely to be cost-effective compared with no testing. Universal germline gene panel testing would not currently be cost-effective. PMID: 31595523 [PubMed - as supplied by publisher]
Source: Medical Journal of Australia - Category: General Medicine Tags: Med J Aust Source Type: research
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Tags: Editorial Source Type: research
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