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Fast Five Quiz: Cancer Diagnostics and Precision Medicine
Fast Five Quiz: Cancer Diagnostics and Precision Medicine

Medscape

time2 hours ago

  • Health
  • Medscape

Fast Five Quiz: Cancer Diagnostics and Precision Medicine

Over the past decade, precision medicine has transformed cancer diagnostics and treatment by tailoring therapy to a patient's tumor biology based on molecular alterations rather than histologic subtypes or origins. Precision oncology often relies on molecular profiling through next-generation sequencing (NGS) to identify genomic events that can guide management. Techniques like targeted panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS) provide different analysis levels, chosen based on tumor type, tissue, and therapy relevance. How much do you know about cancer diagnostics and precision medicine? Test your knowledge with this quick quiz. WGS is an NGS method that analyzes the entire DNA sequence of an organism, including both coding and noncoding regions. WGS offers broad genomic coverage, detecting structural variants, intergenic mutations, and copy number changes often missed by targeted methods. Clinically, it has been useful in identifying ERBB2 ( HER2 ) amplifications in breast cancer or complex epidermal growth factor receptor ( EGFR ) alterations in lung cancer that might not be captured by smaller panels, helping guide targeted therapy. However, its lower sequencing depth (30-60×) typically limits the detection of low-frequency variants in heterogeneous tumors, such as a subclonal TP53 mutation affecting a small subset of cells and potentially impacting treatment response, which WGS may miss due to its lower depth. WES focuses only on the protein-coding regions, offering greater depth than WGS but limited breadth; however, it misses important regulatory and noncoding mutations. For example, TERT promoter mutations in glioblastoma are clinically relevant but lie outside the exome and would be missed by WES. Targeted panels are NGS tests that focus on specific disease-related genes and, until recently, were the predominant method used for comprehensive genomic profiling in clinical settings. They offer high depth for detecting low-frequency, actionable mutations but have limited coverage and might miss rare alterations outside the selected genes. Sanger sequencing is a method that reads DNA by generating fragments of varying lengths using chain-terminating nucleotides. It is accurate for small regions but has low throughput and cannot detect low-frequency mutations, making it unsuitable for large-scale cancer genomics. Unlike WGS, which surveys the entire genome, Sanger covers only targeted regions, so it does not offer broad genomic coverage and is therefore not the correct answer. Learn more about molecular profiling in oncology diagnostics. TS panels analyze specific genes relevant to oncology, and by focusing on a smaller subset of the genome (a few dozen to a few hundred genes), these panels require fewer sequencing data, resulting in faster turnaround times and simplified data interpretation compared with WGS or WES. This targeted approach enhances sensitivity for detecting clinically actionable somatic mutations, especially in small or heterogeneous tumor samples. For example, targeted NGS panels in non-small cell lung cancer (NSCLC) can rapidly detect EGFR mutations, ALK rearrangements, and other actionable alterations, allowing oncologists to initiate targeted therapies based on the mutation profile promptly. TS also demands less data storage and computational processing compared with WGS or WES, resulting in faster turnaround times and lower costs. These attributes make TS especially well-suited for clinical settings where accuracy, speed, and cost-effectiveness are paramount Learn more about clinical practice guidelines in the use of precision medicine in oncology. Tissue is generally preferred for initial genomic profiling because it contains a higher concentration of tumor DNA, allowing for more accurate detection of somatic mutations. This is especially important in early-stage cancers or tumors that do not shed much DNA into the bloodstream to be detectable by liquid biopsy. The tissue also allows for additional analyses like immunohistochemistry for PD-L1 or assessment of tumor histology to guide therapy. Further, immunohistochemistry plays an important role in precision medicine by identifying protein biomarkers to help determine the use of immune checkpoint inhibitors in NSCLC, triple-negative breast cancer, and urothelial carcinoma. Blood-based tests (ie, liquid biopsies) generally yield lower tumor DNA and do not inherently offer deeper sequencing but are generally more cost-effective than tissue biopsies. Regulatory agencies currently accept blood-based tests (eg, FDA-approved liquid biopsies), but they are typically used when tissue is unavailable or there is insufficient tissue. Learn more about tissue-based profiling Liquid biopsy, particularly through the analysis of circulating tumor DNA (ctDNA), has emerged as a valuable tool for monitoring MRD after treatment. By detecting small amounts of tumor-derived genetic material in the blood, liquid biopsy enables early identification of molecular relapse, often before clinical or radiographic evidence of recurrence is apparent. This makes it particularly useful in post-treatment surveillance of cancers such as colorectal, breast, and NSCLC. Diagnosing lymphomas typically requires tissue biopsy to assess architectural patterns and immunophenotyping; it is also commonly regarded as the standard for diagnosis. PD-L1 expression is a protein-based biomarker typically measured by immunohistochemistry on tissue samples, not usually through ctDNA. However, researchers have stated, 'ctDNA response is a potential biomarker for predicting the efficacy and prognosis of first-line PD-1 inhibitor therapy combined with chemotherapy' in patients with advanced gastric cancer. ctDNA also has been shown to predict responses in patients using PD-1/PD-L1 immune checkpoint inhibitors. Tumor staging usually relies on imaging modalities and pathologic evaluation rather than ctDNA analysis alone. Learn more about clinical practice guidelines in the use of precision medicine in oncology. A high TMB is considered useful because it is associated with abnormal proteins that make the tumor more recognizable to the immune system. TMB is measured using NGS by counting the number of somatic, nonsynonymous mutations per megabase of DNA; it is typically assessed using WES or large targeted panels. A TMB of 10 or more mutations per megabase is considered 'high,' based on data from the KEYNOTE-158 trial. This led to the FDA approval of an immune checkpoint inhibitor for TMB-high solid tumors, for example. High TMB is not usually linked to fewer side effects; side effect profiles tend to depend on the therapy, not mutation count. Low TMB has been shown to lead to fewer neoantigens and typically less immune visibility. Typically, TMB directly measures the number of mutations, not PD-L1 protein expression. Learn more about immunotherapy diagnostics.

Park Ridge, Illinois survivor set to climb Mount Kilimanjaro to raise funds for breast cancer research
Park Ridge, Illinois survivor set to climb Mount Kilimanjaro to raise funds for breast cancer research

CBS News

time18 hours ago

  • Health
  • CBS News

Park Ridge, Illinois survivor set to climb Mount Kilimanjaro to raise funds for breast cancer research

Peggy Brosnan fought breast cancer and won the battle — and she said she has never forgotten the kindness of those who helped her along the way. Now, the Park Ridge, Illinois, registered nurse is giving back in a really big way. She is preparing for the climb of her life — surrounded by her family and friends. "When I came up with the idea to combine climbing Mount Kilimanjaro with fundraising for breast cancer research, they all jumped on board," Brosnan said. Brosnan was diagnosed with stage 1 breast cancer 13 years ago. She has been in remission for three years. The onetime oncology nurse is also the founder of Climbing for a Cure. She is training to climb Mount Kilimanjaro with friends and family. The group leaves Chicago for Tanzania on Thursday, June 26. The goal of Climbing for a Cure is to raise $100,000 for breast cancer research at UChicago Medicine. Brosnan said research from that hospital gave her lifesaving care. Her friend Julie Smith Penn will be climbing to honor her sister, Maureen, also a breast cancer survivor. "I'm just happy to help and support in any way — and make sure for the future, if there's more research done, then less women will have to suffer from it," Penn said. Brosnan said the climb is also her way of giving back. "I get emotional just talking about this piece," she said. Brosnan saw the kindness of others firsthand, after enduring 18 chemo treatments and six surgeries. "It was a community that carried us — and I say 'us' because they carried my family," she said. "They carried me emotionally, mentally, physically." Brosnan is the mother of five children. Her husband John and son Justin will be joining her on the climb, along with two other sons. "This all seems very doable experience," said John Brosnan, "and I think we've all been made more resilient by her optimism, by her progress, and her attitude and the way she approached her whole treatment." Justin was 9 years old when his mother was diagnosed with cancer. "Being 22 years old, and understanding more of what that means, and being able to support her on this journey and be along her side on this lifelong goal of hers, and do some fundraising along the way, is pretty cool," said Justin Brosnan. The group has been training for about two months now, with weightlifting, some aerobics, and also climbing the hill at Centennial Park in Park Ridge a part of their regimen. But how that little hill going to compare to Mount Kilimanjaro? "Because we think, jokingly, this is the highest spot in Park Ridge," said Penn. "We're all very excited, but there's definitely some trepidation and some nervousness for the unknown," added Peggy Brosnan. Brosnan said in her blue backpack while on the Kilimanjaro climb, she will be carrying a list of names of breast cancer survivors who are still battling the disease, as well as women who didn't win the fight. She said those names are her inspiration to make her way up the mountain, one step at a time, in their honor. Brosnan said so far, about $10,000 has been raised toward the organization's $100,000 goal. All of the money raised is going to UChicago Medicine for breast cancer research.

Assisted dying: supporters and opponents of bill on hopes and fears ahead of crucial vote
Assisted dying: supporters and opponents of bill on hopes and fears ahead of crucial vote

The Guardian

timea day ago

  • Health
  • The Guardian

Assisted dying: supporters and opponents of bill on hopes and fears ahead of crucial vote

Ever since Pamela Fisher was diagnosed with terminal breast cancer, the fear of dying in pain and discomfort has been keeping her awake at night. 'I don't want to die, not now. I love life and I want to live. But that said, I live in terror at the prospect of how my final weeks of life could turn out,' the 64-year-old said. 'I know that even with the best palliative care available, there are limits to what can be done. It's a dead weight of fear I carry around with me.' Fisher, a former academic and authorised Church of England preacher, is a strong supporter of the assisted dying bill which MPs will debate in a crucial vote on Friday – she hopes it will pass, and come into force in enough time to give her the option of an assisted death when the time comes. Although cancer has now spread to her bones, which makes walking difficult, she has travelled from her home in Huddersfield to join the planned demonstration outside parliament for the bill's third reading. 'Despite all my disabilities and pain, I'll be there until the end, until the vote comes through,' she said. 'I'm hanging all my hopes on it. It would be quite devastating if it is defeated.' Her views have led to some tense exchanges with other members of the church, whose leaders have spoken out against the legislation – the Bishop of London said it may mean vulnerable people are compelled to hasten their death. 'I can't reconcile Christian compassion with the status quo that obliges people to a drawn out process of dying in pain when this is against their will and they have the capacity to choose,' Fisher said. 'People use this concept of the sanctity of life which is completely central to Christian teaching. But I reject the assumption that the sanctity of life requires telling terminally ill people to undergo a painful death when they don't want to.' Most debates in her congregation about the subject have been civilised, she said, although she sometimes feel as if she's marginalised as a terminal cancer patient. 'It's like you're not taken as seriously – people think 'well she would say that, wouldn't she?',' she said. On the other side of the debate, there are people alarmed the legislation could lead to abuse, coercion or people dying earlier than needed, particularly in cases of misdiagnosis and inaccurate prognosis. Peter Sefton-Williams, 72, was diagnosed with suspected motor neurone disease by two neurologists in January 2024, and joined Dignitas after deciding he wanted to opt for an assisted death. 'I was so completely shocked. I did very much think about ending my life because I live on my own and I'm not married, and motor neurone disease is terrible, you can't swallow, you can't speak,' he said. His condition didn't deteriorate and then, nine months later, his diagnosis was changed to a rare, non-terminal condition called multifocal motor neuropathy. 'If assisted dying had been available to me, it's quite possible I would have opted for that. I mean, I had two of the country's senior specialists confirm I had motor neurone disease. I was in a state of great despair,' he said. 'People would have said, well, he died with dignity and so on. Except it would have been an error. It would have been a mistake. I would have died needlessly.' Along with misdiagnoses, the All-Party Parliamentary Group for Terminal Illness reported that the accuracy of predictions of how long someone has left to live can range from 78% to 23%, and in cases involving less understood conditions, such as motor neurone disease, it can be impossible. 'There are lots and lots of cases where people have lived very fruitful, happy lives for much longer than they were expected to,' Sefton-Williams said. 'I was completely traumatised by the whole experience, the misdiagnosis and the implications of that. People have to accept that there will be cases where doctors get it wrong. And that needs to be discussed.' Shafaq Sikandar, 39, has stage four breast cancer and is a keen supporter of the bill. 'It is not because I'm thinking about assisted dying,' she said. 'I might not need it, but what I would like to know is that if and when that happens, that I have a choice. It's a choice not to suffer, to be able to die at home with my loved ones.' She is a professor of sensory neurophysiology, specialising in people's experiences of chronic pain, so knows more than most how pain works, and the scientific limitations of measuring it. 'We don't currently have the appropriate tools to really assess someone's comfort when they're past the point of being able to articulate how they're feeling,' she said. 'I am particularly worried about experiencing pain at any point in my life, including at the end of it. Pain is often described as an erosion of dignity and it really does strip away everything that makes life worth living.' She said she understands the complexity of the bill, and the need to get the safeguarding right. 'But it's still a case of listening to the voice of patients and understanding they want to have a choice in their treatment,' she said. 'When we think about death we also need to think about the meaning of life and I think a lot of that boils down to living as well as you can until that very last breath.'

Postmenopausal breast cancer: Risk, symptoms, and more
Postmenopausal breast cancer: Risk, symptoms, and more

Medical News Today

time2 days ago

  • Health
  • Medical News Today

Postmenopausal breast cancer: Risk, symptoms, and more

Link MHT and breast cancer Other risk factors Contacting a doctor FAQ Postmenopausal breast cancer occurs at higher rates due to cumulative hormone exposure and age-related cellular changes that increase cancer risk. Breast cancer develops when cells in breast tissue begin to grow and divide uncontrollably, forming tumors that can spread to other parts of the body. The risk of breast cancer increases significantly with age, particularly after menopause, when hormonal and cellular changes create an environment more conducive to cancer development. This article explores postmenopausal breast cancer risk, symptoms to watch for, and risk reduction strategies following menopause. Curly_photo/Getty Images Yes, the risk of breast cancer can increase after menopause. Statistics show that the likelihood of developing breast cancer rises with age, with about 1 in 8 women developing the disease during their lifetime, and the majority of these cases occurring after menopause. In those ages 20 to 24, there are 1.5 breast cancer cases per 100,000. This figure jumps to more than 421 cases in those ages 75 to 79. More than 9 in 10 new female breast cancer cases occur in those ages 40 or over. This age-related increase means that postmenopausal people may benefit from regular screening. The relationship between breast cancer and menopause centers on the length of hormone exposure. During reproductive years, the body produces estrogen and progesterone every month as part of the menstrual cycle. These hormones signal breast cells to grow and divide, a process that is entirely natural. However, each time cells divide, there is a slight chance for mistakes to occur in the DNA. Over many years, these mistakes can accumulate and potentially lead to cancer development. While menopause itself does not directly cause cancer, breast cancer risk naturally increases with age. Those who experience menopause later in life, after age 55, have a higher risk of breast cancer because their bodies were exposed to reproductive hormones for longer periods. Menopausal hormone therapy (MHT) is another consideration. Many people use MHT during perimenopause to manage symptoms such as hot flashes, but some types of MHT increase breast cancer risk. The risk appears to be higher with combined estrogen and progesterone treatment compared to estrogen alone. MHT can increase breast cancer risk, but the level of risk depends on the specific type of HRT used. Combination MHT, which contains both estrogen and progesterone, poses a higher risk than estrogen-only therapy. Estrogen-only MHT is typically used by those who have had hysterectomies. It does not appear to be linked to an increased breast cancer risk, making it a safer option for appropriate candidates. MHT may increase the initial risk of developing breast cancer and make it more likely that cancer will be detected at advanced stages. According to this occurs partly because combination MHT increases breast density, making mammograms less effective at spotting early cancers. The risk appears greater with daily progesterone use compared to less frequent dosing schedules. The dose and duration of MHT also play a significant role in breast cancer risk. Higher doses carry a greater risk than lower doses, and this increased risk can persist for more than 10 years after treatment stops. These findings apply to both synthetic hormones and bioidentical products, despite marketing claims that natural hormones are safer. Anyone considering MHT should discuss their risk factors with healthcare professionals to weigh the benefits of symptom relief against potential cancer risks. Reproductive history : Never having children or having a first child after age 30 increases the risk. Pregnancy lowers breast cell exposure to circulating estrogen. The more children a person has, the greater the protection against breast cancer. : Never having children or having a first child after age 30 increases the risk. Pregnancy lowers breast cell exposure to circulating estrogen. The more children a person has, the greater the protection against breast cancer. Lifestyle factors : A lack of physical activity and excessive alcohol consumption can contribute to increased risk. Smoking, particularly if started at a young age, also elevates breast cancer risk. : A lack of physical activity and excessive alcohol consumption can contribute to increased risk. Smoking, particularly if started at a young age, also elevates breast cancer risk. Medical factors : Previous breast biopsies showing atypical cells, family history of breast or ovarian cancer, and genetic mutations such as BRCA1 or BRCA2 significantly increase risk. Radiation exposure to the chest area, particularly during adolescence, also contributes to elevated risk. : Previous breast biopsies showing atypical cells, family history of breast or ovarian cancer, and genetic mutations such as BRCA1 or BRCA2 significantly increase risk. Radiation exposure to the chest area, particularly during adolescence, also contributes to elevated risk. Dense breast tissue: Dense breast tissue has a higher risk of developing breast cancer and may require additional screening methods beyond standard mammography. Maintain a moderate weight : Working toward and maintaining a moderate weight through balanced nutrition and regular physical activity significantly reduces risk. : Working toward and maintaining a moderate weight through balanced nutrition and regular physical activity significantly reduces risk. Exercise regularly : Aim for at least 150 minutes of moderate-intensity aerobic activity per week, plus two sessions of strength training exercises each week. : Aim for at least 150 minutes of moderate-intensity aerobic activity per week, plus two sessions of strength training exercises each week. Limit alcohol consumption : Restrict alcohol intake to no more than one drink per day, as alcohol consumption is linked to increased breast cancer risk at any level of intake. : Restrict alcohol intake to no more than one drink per day, as alcohol consumption is linked to increased breast cancer risk at any level of intake. Follow screening guidelines : Adhere to the recommended mammography schedules, typically once or twice a year, depending on age and risk factors. People with a higher risk may need additional screening methods. : Adhere to the recommended mammography schedules, typically once or twice a year, depending on age and risk factors. People with a higher risk may need additional screening methods. Consider preventive medications: For high risk individuals, medications like tamoxifen or raloxifene may reduce breast cancer risk by around 40% . These decisions require careful discussion with oncologists or breast specialists. A person should contact a doctor if they notice any symptoms of breast cancer. Postmenopausal individuals should be particularly vigilant because they no longer experience monthly breast changes related to menstrual cycles, making new abnormalities more significant. Any persistent change lasting more than 2 weeks warrants medical evaluation. Although regular self-examinations are not a replacement for professional screening, they can help people become familiar with their normal breast tissue and detect changes early. Invasive ductal carcinoma (IDC) accounts for about 80% of breast cancer cases and breast cancer mainly develops in those around the age of 62. Generally, yes. After menopause, the body produces much less estrogen and progesterone, the hormones that many breast cancers depend on to grow and spread. With lower hormone levels after menopause, these cancers receive weaker growth signals and tend to develop more slowly. This hormonal change creates a less favorable environment for cancer growth compared to the higher hormone levels present during reproductive years. Yes, postmenopausal breast cancer is typically less aggressive. Many breast cancers in older individuals are 'hormone-receptor-positive,' meaning they have receptors that allow hormones to fuel their growth. These hormone-positive cancers respond well to treatments that block hormones or prevent the body from making them, essentially cutting off the cancer's fuel supply. Postmenopausal breast cancer risk increases significantly with age. The relationship between menopause and breast cancer stems from cumulative hormonal exposure and age-related cellular changes. Risk factors include MHT, excess weight, family history, and lifestyle factors. People can reduce their risk by maintaining a moderate weight, engaging in regular exercise, limiting alcohol consumption, and following screening guidelines. While postmenopausal breast cancers are often hormone receptor-positive and slower-growing, early detection remains crucial for optimal outcomes. Symptoms may be subtle but include new lumps, breast changes, and nipple abnormalities. Breast Cancer Menopause Cancer / Oncology

Walk-in breast cancer screening underway in northeastern Ontario
Walk-in breast cancer screening underway in northeastern Ontario

CTV News

time2 days ago

  • Health
  • CTV News

Walk-in breast cancer screening underway in northeastern Ontario

Mammothon – a huge effort to encourage woman who are eligible for breast cancer screening – is back after a pause forced by the pandemic. The 'Mammothon' breast screening event is back on in northern Ontario after a five-year hiatus with a goal of screening hundreds of women for cancer. Nine locations in the region are offering drop-in mammogram screening for people aged 40–74. 'Essentially, what Mammothon aims to do is screen people who are eligible for breast cancer screening or who have never been screened or who are overdue for screening,' said Steven Blakely, a cancer screening manager with the Lung Diagnostic Assessment Program. 'In the northeast region of Ontario, we have 13 Ontario breast screening program sites. Nine out of these 13 sites are in fact, participating.' Breast cancer is the third leading cause of cancer deaths in Canadian women. 'Oh, it's not so bad' Early screening can help improve chances of recovery, but many people put off testing, according to Sherrie Palys, the ultrasound supervisor at Sudbury's Well Health Diagnostics Centers. Health care professional looks at mammogram scan Health care professional looks at mammogram scan (File) 'We see the stigma that comes with mammograms, women hear stories and, you know, they seem to get like, fearful of it,' Palys said. 'And I just want to let everybody know out there, it really is worth the four pictures, the 15 minutes of your time. I see it work every day. And women who have come to us went, 'oh, it's not so bad. It's not what I thought.'' While Ontario residents become eligible for screening at age 40, it is recommended that women between the ages of 50 and 74 get a mammogram every two years. Health care professional looks at mammogram scan Health care professional helps patient during mammogram scan (File) If not, you may be behind on tests. 'It's recommended that if you are between the ages of 40 to 49, you consult with your primary care provider to determine if screening is right for you,' Blakley said. 'But if you are between the ages of 50 and 74, no referral is required. You can walk right into the center and they should be able to accommodate you.' Details for each northeastern Ontario site included in the Mammothon, where walk-ins are welcome: Kapuskasing June 18 from 8 a.m. to 4:30 p.m. at Sensenbrenner Hospital at 101 Progress Cr., 705-337-4011. Kirkland Lake June 25 from 8:30 a.m. to 4 p.m. at Blanche River Hospital at 145 Government Rd. East, 1-866-567-5251. Moose Factory June 14-20 from 8 a.m. to 4 p.m. at Weeneebayko General Hospital at 19 Hospital Dr., 705-658-4544 ext. 2305. Parry Sound June 19 and 20 from 8 a.m. to 4 p.m. at West Parry Sound Health Centre at 6 Albert St., 705-746-4540 ext. 3602. Sault Ste. Marie June 18 from 8 a.m. to 8 p.m. at Sault Area Hospital at 750 Great Northern Rd., 1-833-255-6277, and Group Health Centre at 240 McNabb St. until 4 p.m. Sturgeon Falls June 18 from a.m. to 7 p.m. at West Nipissing General Hospital, 725 Coursol Rd., 705-753-3110 ext. 257. Sudbury June 16-20 from 8 a.m. to 4 p.m. at WELL Health Sudbury at 40 Elm St., Suite 255, 1-833-904-4840. Timmins June 18 from 7:30 a.m. to 7:30 p.m. at Timmins and District Hospital at 700 Ross Ave. East, 705-360-6012. Health care experts said they hope to see 445 patients throughout the Mammothon at the various locations around the region.

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