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Screening (medicine)

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Bowel Cancer UK Campaign: People at high risk of bowel cancer


Bowel Cancer UKFrom Bowel Cancer UK: Read more here

Our briefing highlights the lack of surveillance screening for younger people at higher risk of bowel cancer.

Genetic factors contribute up to 30% of bowel cancer cases, an estimated 8,000-12,000 cases each year.

Genetic factors mean a strong family history of bowel cancer, or genetic conditions such as familial adenomatous polyposis (FAP) or Lynch syndrome. People with long-term inflammatory bowel disease are also at higher risk.

Research findings

People in higher risk groups are likely to develop bowel cancer much younger than the general population. Clinical guidance recommends that people in high-risk groups should be in a surveillance screening programme, which is proven to reduce deaths in these groups.

Recent evidence shows that:

  • People diagnosed are not routinely tested for genetic conditions, and only a third of centres identify and manage high-risk patients through a registry.
  • Even when they are in a surveillance programme, patients may have to wait a long time for their screening colonoscopy. Thirty-five hospitals offering a surveillance programme have a waiting time of over 26 weeks (6 months) for people at higher risk.
  • More than half of centres do not have a programme for managing high-risk groups.
  • 64% of clinicians believed that someone else should be carrying out the surveillance work.

Recommendations

Our briefing, “Never too young: Supporting people at higher risk of bowel cancer”, has five recommendations to improve services for people in high risk groups:

  1. Better surveillance screening for those at high risk of developing bowel cancer.
  2. Clear information should be made available for GPs and the public on who may be at higher risk of bowel cancer.
  3. As people with a genetic condition such as Lynch syndrome typically develop bowel cancer at a young age, anyone diagnosed with bowel cancer under the age of 50 should have a genetic test for these conditions, so they and their families can be included in a surveillance programme.
  4. Adequate endoscopy service capacity to ensure that people at high risk do not have a long wait for their colonoscopy.
  5. Designation of a single named lead person in each hospital trust with responsibility for a registry of people at higher risk.

Full details of our findings and recommendations are in our full report available here.

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Lynch Syndrome Awareness Day: March 22, 2014


Imageby Georgia Hurst, MA (Founder of Ihavelynchsyndrome.com)

Does your family have a history of early onset colon cancer? If so, your family may have Lynch syndrome.  Lynch syndrome may also increase one’s chances of developing cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, kidneys, bladder, pancreas, brain, skin, and if you are a male, the prostate. Women with this syndrome also are at higher risk for developing cancer of the endometrium, ovaries, and breasts. Approximately up to 1,000,000 people in the U.S. have Lynch syndrome and yet only 5% know it. Genetic testing, along with preventative measures, and annual medical screening may help one take steps to minimize risk of illness and death.

Please visit ihavelynchsyndrome.com or Lynchcancers.com for more information.

 

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The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome genetic variants.


Familial CancerThis article provides a historical overview of the online database (www.insight-group.org/mutations) maintained by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT). The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of the database, but are not covered here. Over time, as the understanding of the genetics of Lynch Syndrome increased, databases were created to centralise and share the variants which were being detected in ever greater numbers. These databases were eventually merged into the InSiGHT database, a comprehensive repository of gene variant and disease phenotype information, serving as a starting point for important endeavours including variant interpretation, research, diagnostics and enhanced global collection. Pivotal to its success has been the collaborative spirit in which it has been developed, its association with the Human Variome Project, the appointment of a full time curator and its governance stemming from the well established organizational structure of InSiGHT.

The InSiGHT colorectal cancer hereditary mutation database can be found here

 

Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network


Centers for Disease Control and Prevention CDC 24/7: Saving Lives. Protecting People.™

Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network

March 22nd, 2012 11:35 am ET – From CDC

Deb Duquette, MS, CGC, Sarah Mange, MPH- Michigan Department of Community Health, Cecelia Bellcross, PhD, MS- Emory University, Heather Hampel, MS, CGC- The Ohio State University, Kory Jasperson, MS, CGC- Huntsman Cancer Institute

Authors are all from the Lynch Syndrome Screening Network (LSSN) Founding Board of Directors

flow chart individualEvery day, about 400 people in the United States are diagnosed with colorectal cancerExternal Web Site Icon. Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers. Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communitiesExternal Web Site Icon.

Lynch syndrome is the most common hereditary cause of colorectal and endometrial cancer; it also leads to increased risks of ovarian, pancreatic, and several other cancers, which often occur at a younger than average age. Lynch syndrome occurs among men and women in all ethnic groups in the United States. A diagnosis of Lynch syndrome offers an opportunity to 1) enhance cancer prevention and screening measures for patients and families, 2) prevent cancer or detect it earlier, and 3) save lives and is cost-effectiveExternal Web Site Icon.

In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendationExternal Web Site Icon that every person newly diagnosed colorectal cancer should be offered screening for Lynch syndrome to identify opportunities to reduce morbidity and mortality in their relatives.

Lynch syndrome screening is performed by analyzing tissue from the person with colorectal cancer for specific pathologic features. If the results suggest the possibility of Lynch syndrome, the affected person is offered genetic counseling and additional testing. Offering screening to all newly diagnosed colorectal cancer patients—regardless of age, ethnicity or family history—is termed “universal screening.” This approach supports an objective of Healthy People 2020, which is to:

‘Increase the number of newly diagnosed colorectal cancer patients who are screened for Lynch syndromeExternal Web Site Icon’

In September 2011, a group of 37 dedicated people from leading cancer institutions created the Lynch Syndrome Screening Network (LSSN)External Web Site Icon, with the goal of reducing the cancer burden associated with Lynch syndrome. LSSN has already received more than 80 institutional applications for membership. More than half of the applicant institutions have already implemented universal Lynch syndrome screening and the others are either interested or in the process. The LSSN will facilitate implementation of universal Lynch syndrome screening by promoting sharing of resources, protocols, and data. LSSN Founding members have already gathered existing educational resources and created a new database to monitor progress toward achieving the Healthy People 2020 objective for Lynch syndrome.

Each first-degree relative (parent, sibling, or child) of a person with Lynch syndrome has a 50% risk of carrying the gene mutation and should be offered genetic counseling and testing. Relatives of a person with Lynch syndrome who are not found to have the gene mutation for Lynch syndrome will typically have the same risk for colorectal cancer as the general population, and their children will not be at risk for Lynch syndrome. Family members who are found to have the gene mutation for Lynch syndrome can be offered earlier and more frequent screening for colorectal and other cancers. Because these people can pass the gene mutation on to their children, the children should also be offered testing after reaching adulthood.

Genetic testing in family members of persons with a Lynch syndrome gene mutation is called “cascade testing.” Cascade testing will allow the Healthy People 2020 objective to achieve population health impact by preventing additional cancers in family members.

March is National Colorectal Cancer Awareness month. This month, increasing awareness of Lynch syndrome is especially timely, as the importance of collecting and sharing information regarding family history of colorectal cancer is being promoted throughout the United States (Colon Cancer AllianceExternal Web Site Icon ; Family PLZExternal Web Site Icon). People with an immediate family member diagnosed with colorectal cancer should share this information with their health care providers, so that screening for Lynch syndrome can be considered.

Lynch Syndrome International is promoting March 22, 2012, as LYNCH SYNDROME PUBLIC AWARENESS DAY. To learn more, please visit Lynch Syndrome International Home pageExternal Web Site Icon ( or the Lynch Syndrome Hereditary Cancers Public Awareness pageExternal Web Site Icon or LSI on FacebookExternal Web Site Icon)

via CDC – Blogs – Genomics and Health Impact Blog – Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network.

Lynch Syndrome: Screening or Surgery to Prevent Gynaecological Cancers?


How effective is surveillance for endometrial and ovarian cancer in Lynch Syndrome patients?

In Lynch Syndrome, the risk of developing endometrial cancer (EC) is very high and equals or even exceeds the risk of colorectal cancer (CRC) in female gene carriers.49 The overall prognosis of patients diagnosed with EC is relatively good, with a 10-year survival of approximately 80%. However, 20% of the patients will ultimately die from the disease. Moreover, a substantial proportion of patients need treatment with radiation and/or chemotherapy.

The main goal of surveillance for EC is detection and treatment of premalignant lesions (ie, endometrial hyperplasia) or EC at an early stage and thereby improving the prognosis for the patients. The World Health Organization classifies endometrial hyperplasia as simple or complex determined by the degree of architectural abnormality, and as having or not having atypia. Nieminen et al50 studied serial specimens of normal endometrium, simple hyperplasia and complex hyperplasia with and without atypia during 10 years of surveillance. MMR deficiency was observed in 7% of normal endometrium, 40% of simple hyperplasia, 100% of complex hyperplasia without atypia and 92% of complex hyperplasia with atypia, suggesting that in LS, contrary to the traditional view, complex hyperplasia with and without atypia was equally important as precursor lesions of EC.

In 2011, Auranen and Joutsiniemi51 performed a systematic review of all studies that addressed gynaecological cancer surveillance in women who belonged to LS families. The authors identified five studies in the literature that included a total of 647 women.52–56 The screening methods applied in the studies varied from only transvaginal (or transabdominal) ultrasound (two studies) to a combination of transvaginal ultrasound and endometrial biopsy (two studies) and hysteroscopic endometrial biopsy (one study). The intervals between examinations varied between 1 year in three studies, 1–2 years in one study and 2–3 years in another study. In the studies that used only ultrasound as the screening tool, no EC were detected and only interval cancers occurred. However, in the studies with a protocol that also included endometrial biopsies, the detection of premalignant lesions and EC was improved.

Renkonen-Sinisalo et al54 compared the Federation of Gynecology and Obstetrics (FIGO) stages of the screen-detected cancers with those of EC diagnosed after presentation of signs or symptoms. Although less advanced cancers were observed in the screen-detected group, the difference was not statistically significant. The main advantage of the surveillance programme seems to be the identification of precursor lesions. No benefit was shown for ovarian cancer surveillance. Auranen and Joutsiniemi51 concluded that the available studies do not adequately allow for evidence-based clinical decisions.

Since that review, another retrospective study was published on the impact of gynaecological screening in MSH2 carriers (n=54).57 Nine women were diagnosed with EC, five of which were within 1 year of the previous negative screening test (transvaginal ultrasound and/or endometrial biopsy) and two were at initial screening. Of the nine EC, seven were localised cancers (stage I), and one was at an advanced stage (stage III). There were no deaths due to EC. Six women had ovarian cancer, three of which were within 1 year of a previous normal screening. Two died from ovarian cancer. The authors concluded that gynaecological screening did not result in earlier detection of gynaecological cancer.

In view of the uncertain effect of the surveillance programme, it is important to consider possible disadvantages of the programme. Elmasry et al58 assessed the patient acceptability of the available screening modalities. Transvaginal ultrasound was associated with less discomfort than hysteroscopy or Pipelle biopsy. There was no significant difference between the pain scores for hysteroscopy and Pipelle biopsy. Huang et al59 compared a new patient-centered approach by combining endometrial biopsies and colonoscopy under sedation. This approach was much more acceptable than an endometrial biopsy as a single procedure without sedation.

Wood et al60 evaluated the effect of gynaecological screening in LS families on psychological morbidity. The authors did not demonstrate any adverse psychological effect in the screened population, even in those with false positive screening results.

Conclusion

The value of surveillance for EC is still unknown. Surveillance of the endometrium by gynaecogical examination, transvaginal ultrasound and aspiration biopsy starting from the age of 35–40 years may lead to the detection of premalignant disease and early cancers (category of evidence III) and should be offered to mutation carriers (grade of recommendation C). The pros and cons should be discussed (table 5). Given the lack of evidence of any benefit, gynaecological surveillance should preferably be performed as part of a clinical trial.

Table 5

Pros and cons of surveillance for gynaecological cancer

Pros Cons
Identification of precursor lesions of endometrial cancer Small risk of death
Identification of early stage endometrial cancer (not proved) Physical burden of surveillance examination especially Pipelle biopsy
No evidence of efficacy for early stage ovarian cancer detection
Psychological burden

What is the role of prophylactic hysterectomy with or without oophorectomy?

Relevant literature

Schmeler et al61 have shown in a retrospective study that prophylactic hysterectomy and oophorectomy is very effective in LS: none of the patients who underwent prophylactic surgery (61 out of 315) developed endometrial or ovarian cancer, whereas 33% of patients who did not have surgery developed EC and 5.5% developed ovarian cancer.

A recent study documented two cases of LS patients who developed primary peritoneal cancers after prophylactic surgery.62 A cost-effectiveness analysis of prophylactic surgery versus gynaecological screening showed that risk-reducing surgery was associated with both the lowest costs and highest number of quality-adjusted life years.63 ,64

In view of the very high risk of EC, the substantial proportion of women who will die from the disease, the morbidity associated with treatment and the effectiveness of prophylactic surgery, there is agreement that the option of prophylactic hysterectomy should be discussed with mutation carriers who have completed their family. However, there are still some important questions that should be addressed.

First, should prophylactic surgery include salpingo-oophorectomy? The risk of developing ovarian cancer in mutation carriers is approximately 9% with the highest risks in MLH1 and MSH2 mutation carriers and the lowest risk in MSH6 mutation carriers. Although the prognosis of unselected patients with ovarian cancer (and also of patients with ovarian cancer associated with BRCA1 and BRCA2 mutations) is very poor, recent studies suggested that the biology of ovarian cancer associated with LS may be different. Three studies showed that the majority of symptomatic ovarian cancers (77–81%) in LS are diagnosed at an early stage (FIGO stages I and II).65–67 In a multicentre study, Grindedal et al66 collected a large number (n=144) of prospectively diagnosed cases of ovarian cancer and demonstrated a very good prognosis with a 10-year survival of 81%.

Prophylactic surgery in postmenopausal women should include salpingo-oophorectomy. However, salpingo-oophorectomy in premenopausal women is associated with various adverse effects such as an immediate onset of menopause as a result of oestrogen deprivation potentially resulting in vasomotor symptoms and possible sexual dysfunction. Oestrogen deprivation may also lead to a higher risk of osteoporosis. A large study by Madalinska et al68 in 846 carriers of a BRCA1 and BRCA2 mutations reported significantly more endocrine symptoms in the patients who underwent prophylactic oophorectomy compared to women who underwent surveillance of the ovaries. No significant differences were observed in the level of sexual activities between the two groups, but women in the prophylactic surgery group reported significantly more discomfort (vaginal dryness and dyspareunia), less pleasure and less satisfaction during sexual activities. Despite this, the study did not reveal any other differences in quality of life. Usually, hormone replacement therapy is prescribed in premenopausal women after salpingo-oophorectomy, which may partly reduce the vasomotor symptoms but has no effect on sexual discomfort.

In view of the recent study that suggests a relatively good prognosis of ovarian cancer in LS, it is questionable whether the possible small gain in life expectancy outweighs the adverse effects of prophylactic salpingo-oophorectomy at a young age.

The second question is how these issues should be discussed with the patient and how the patient can be supported in their decision-making? The best approach is to inform the patient fully about all pros and cons of prophylactic surgery. As a basis for this discussion, the pros and cons are summarised in table 6. Depending on the type of information, a gynaecologist, geneticist, clinical psychologist or other specialists should be involved. Ideally, this information should also be available in written form.

Table 6

Pros and cons of prophylactic hysterectomy with and without salpingo-oophorectomy

Pros Cons
Prevention of endometrial and ovarian cancer Small risk of death
Prevention of morbidity related to treatment Mortality surgery (0.1%)
Morbidity surgery (5–9%)
Pelvic surgery makes colonoscopy more difficult and painful and may reduce chance of full colonoscopy
Psychosocial problems (10–20%)
Early menopause depending of age at surgery
Sexual problems related to hysterectomy and early menopause
Probably very small risk of developing primary peritoneal carcinoma after oophorectomy
Unnecessary removal

The third question is from which age surgery should be recommended. The risk of endometrial and ovarian cancer increases from the age of 40 years. The optimal timing of prophylactic surgery, therefore, would be around the age of 40 years.

Conclusion

Hysterectomy and bilateral oophorectomy largely prevents the development of endometrial and ovarian cancer (category of evidence III) and is an option to be discussed with mutation carriers who have completed their families especially after the age of 40 years (grade of recommendation C). Also, if CRC surgery is scheduled, the option of prophylactic surgery at the same time should be considered. All pros and cons of prophylactic surgery should be discussed.

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