22-year longitudinal study of repetitive colonoscopy in patients with a family history of colorectal cancer

Introduction We report the outcomes of a long-term surveillance programme for individuals with a family history of colorectal cancer. Methods The details of patients undergoing a colonoscopy having been referred on the basis of family history of colorectal cancer were entered prospectively into a database. Further colonoscopy was arranged on the basis of the findings. The outcomes assessed included incidence of cancer and adenoma identification at initial and subsequent colonoscopy. Results The records of 2,293 patients (917 men; median patient age: 51 years) were entered over 22 years, giving data on 3,982 colonoscopies. Eight adverse events (0.2%) were recorded. Twenty-seven cancers were found at first colonoscopy and thirteen developed during the follow-up period. There were significantly more cancers identified in those with more than one first-degree relative with cancer than in other groups (p=0.01). The number of adenomas identified at subsequent surveillance colonoscopies remained constant with between 9.3% and 12.0% of patients having adenomas that were removed. Two-thirds (68%) of patients with cancer and three-quarters (77%) with adenomas fell outside the British Society of Gastroenterology (BSG) 2006 guidelines. Conclusions Repeated colonoscopy continues to yield significant pathology including new cancers. These continue to occur despite removal of adenomas at prior colonoscopies. The majority of patients with cancers and adenomas fell outside the BSG 2006 guidelines; more would have fallen outside the 2010 guidelines.

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Familial colorectal cancer risk in half siblings and siblings: nationwide cohort study

BMJ ◽

10.1136/bmj.l803 ◽

2019 ◽

pp. l803 ◽

Cited By ~ 6

Author(s):

Yu Tian ◽

Elham Kharazmi ◽

Kristina Sundquist ◽

Jan Sundquist ◽

Hermann Brenner ◽

...

Keyword(s):

Colorectal Cancer ◽

Cohort Study ◽

Family History ◽

Cancer Risk ◽

Confidence Interval ◽

Cumulative Risk ◽

Degree Relative ◽

History Of ◽

Half Sibling ◽

Second Degree

AbstractObjectiveTo explore the risk of colorectal cancer in family members of patients with colorectal cancer, with an emphasis on subtypes of second degree relatives, especially half siblings, which were lacking in the literature.DesignAmbidirectional cohort study.SettingNationwide Swedish Family Cancer Data (record linkage).ParticipantsAll people residing in Sweden and born after 1931, with their biological parents, totalling >16 million individuals (follow-up: 1958-2015); of those with clear genealogy, 173 796 developed colorectal cancer.Main outcome measuresLifetime (0-79 years) cumulative risk and standardised incidence ratio of colorectal cancer among first degree relatives and second degree relatives.ResultsThe overall lifetime cumulative risk of colorectal cancer in siblings of patients was 7%, which represents a 1.7-fold (95% confidence interval 1.6 to 1.7; n=2089) increase over the risk in those without any family history of colorectal cancer. A similarly increased lifetime cumulative risk (6%) was found among half siblings (standardised incidence ratio 1.5, 95% confidence interval 1.3 to 1.8; n=140). The risk in people with colorectal cancer in both a parent and a half sibling (standardised incidence ratio 3.6, 2.4 to 5.0; n=32) was close to the risk in those with both an affected parent and an affected sibling (2.7, 2.4 to 3.0; n=396). Family history of colorectal cancer in only one second degree relative other than a half sibling (without any affected first degree relatives), such as a grandparent, uncle, or aunt, showed minor association with the risk of colorectal cancer.ConclusionFamily history of colorectal cancer in half siblings is similarly associated with colorectal cancer risk to that in siblings. The increase in risk of colorectal cancer among people with one affected second degree relative was negligible, except for half siblings, but the risk was substantially increased for a combination of family history in one affected second degree relative and an affected first degree relative (or even another second degree relative). These evidence based findings provide novel information to help to identify people at high risk with a family history of colorectal cancer that can potentially be used for risk adapted screening.

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Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Gut ◽

10.1136/gutjnl-2019-319915 ◽

2019 ◽

Vol 69 (3) ◽

pp. 411-444 ◽

Cited By ~ 24

Author(s):

Kevin J Monahan ◽

Nicola Bradshaw ◽

Sunil Dolwani ◽

Bianca Desouza ◽

Malcolm G Dunlop ◽

...

Keyword(s):

Colorectal Cancer ◽

Great Britain ◽

Family History ◽

Cancer Genetics ◽

Genetic Diagnosis ◽

Lifetime Risk ◽

British Society ◽

Screening And Surveillance ◽

History Of ◽

The Uk

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

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Frequency of replication errors in colorectal cancer and their association with family history

Gut ◽

10.1136/gut.43.4.553 ◽

1998 ◽

Vol 43 (4) ◽

pp. 553-557 ◽

Cited By ~ 6

Author(s):

S R Brown ◽

P J Finan ◽

L Cawkwell ◽

P Quirke ◽

D T Bishop

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Mutation Status ◽

Replication Errors ◽

Cancer Group ◽

Amsterdam Criteria ◽

History Of ◽

Regional Population ◽

Colorectal Cancer Patients

Background—Replication errors (RERs) characterise tumours of hereditary non-polyposis colorectal cancer (HNPCC). RER status may therefore improve identification of such families previously diagnosed by family history alone.Aims—To assess RER and HNPCC frequency within a population of colorectal cancer patients and a regional population of family history defined (Amsterdam criteria) HNPCC families.Methods—Family history was assessed by personal interview in a population of 479 patients with colorectal cancer attending one follow up clinic. Seven fluorescently labelled microsatellites were used to investigate RER frequency in colorectal cancers from 89 patients of this population with varying degrees of family history and 20 Amsterdam criteria positive families (four with a known germline mutation, 16 with unknown mutation status) from the regional population.Results—Only four of the follow up population (0.8%) came from families meeting the Amsterdam criteria with only one showing RERs. The frequency of RERs was similar in the early onset cancer group (less than 50 years of age), those with a family history, and those with no family history of colorectal cancer. From the regional population, RERs were identified in 4/4 families with a mutation but only 8/16 families with unknown mutation status.Conclusions—No correlation was seen between RER status and strength of family history except in HNPCC families. Results also indicate that half of the Amsterdam criteria defined families do not exhibit RERs, perhaps suggesting a different mechanism of tumorigenesis.

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Long-Term Prognosis of Febrile Individuals with Right Precordial Coved-Type ST-Segment Elevation Brugada Pattern: A 10-Year Prospective Follow-Up Study

Journal of Clinical Medicine ◽

10.3390/jcm10214997 ◽

2021 ◽

Vol 10 (21) ◽

pp. 4997

Author(s):

Chin-Feng Tsai ◽

Yao-Tsung Chuang ◽

Jing-Yang Huang ◽

Kwo-Chang Ueng

Keyword(s):

Family History ◽

Sudden Death ◽

Previous History ◽

Asymptomatic Patients ◽

Arrhythmic Event ◽

History Of ◽

Asymptomatic Individuals

A febrile state may provoke a Brugada electrocardiogram (ECG) pattern and trigger ventricular tachyarrhythmias in susceptible individuals. However, the prognostic value of fever-induced Brugada ECG pattern remains unclear. We analyzed the clinical and extended long-term follow-up data of consecutive febrile patients with a type 1 Brugada ECG presented to the emergency department. A total of 21 individuals (18 males; mean age, 43.7 ± 18.6 years at diagnosis) were divided into symptomatic (resuscitated cardiac arrest in one, syncope in two) and asymptomatic (18, 86%) groups. Sustained polymorphic ventricular tachycardias were inducible in two patients with previous syncope. All 18 asymptomatic patients had no spontaneous type 1 Brugada ECG recorded at second intercostal space and no family history of sudden death. Among asymptomatic individuals, 4 had a total 12 of repeated non-arrhythmogenic febrile episodes all with recurrent type 1 Brugada ECGs, and none had a ventricular arrhythmic event during 116 ± 19 months of follow-up. In the symptomatic group, two had defibrillator shocks for a new arrhythmic event at 31- and 49 months follow-up, respectively, and one without defibrillator therapy died suddenly at 8 months follow-up. A previous history of aborted sudden death or syncope was significantly associated with adverse outcomes in symptomatic compared with asymptomatic individuals (log-rank p < 0.0001). In conclusion, clinical presentation or history of syncope is the most important parameter in the risk stratification of febrile patients with type 1 Brugada ECG. Asymptomatic individuals with a negative family history of sudden death and without spontaneous type 1 Brugada ECG, have an exceptionally low future risk of arrhythmic events. Careful follow-up with timely and aggressive control of fever is an appropriate management option.

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P5029Inducibility of ventricular tachyarrhythmias by up to two extrastimuli does not predict future cardiac events in asymptomatic Brugada patients: results from long-term follow-up

European Heart Journal ◽

10.1093/eurheartj/ehz746.0207 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

M Takagi ◽

T Kamakura ◽

T Shinohara ◽

Y Sekiguchi ◽

Y Yokoyama ◽

...

Keyword(s):

Family History ◽

Right Ventricular ◽

Right Ventricular Outflow Tract ◽

Ventricular Tachyarrhythmias ◽

Cardiac Events ◽

Long Term Follow Up ◽

History Of ◽

J Wave

Abstract Background Most recent consensus conference report recommends Implantable Cardioverter Defibrillator (ICD) implantation for asymptomatic Brugada patients with spontaneous or fever-induced type-1 ECG (A-BrS) and inducible ventricular tachyarrhythmias (VTs) by up to two extrastimuli as class IIb indication. However, the validity of the inducible VTs by up to two extrastimuli in A-BrS is still unknown. Purpose To evaluate the validity of the inducibility by up to two extrastimuli in A-BrS in a large Japanese cohort of BrS (The Japan Idiopathic Ventricular Fibrillation Study [J-IVFS]). Methods A total of 193 consecutive A-BrS patients performed programmed electrical stimulation (PES) with non-aggressive uniform protocol (mean age 50±13 years, 180 males) were enrolled. PES protocol was using 2 basic pacing cycles and the order of introduction of up to 2 ventricular extra-stimuli from right ventricular apex [RVA] first, then right ventricular outflow tract [RVOT], 3 ventricular extra-stimuli from RVA then RVOT down to the minimum of 200ms. Clinical outcomes during the follow-up period were compared between A-BrS patients with and without inducible VTs by up to two extrastimuli. Results Thirty-five A-BrS (18%) had inducible VTs by up to two extrastimuli. During a mean follow-up period of 101±48 months, 7 A-BrS experienced cardiac events (sudden cardiac death [SCD] or VTs, 0.4%/yr). None of the 7 A-BrS had inducible VTs by up to two extrastimuli. The incidences of cardiac events tended to be higher in A-BrS without inducible VTs by up to two extrastimuli than in those with inducible VTs (p=0.10), as determined by the Kaplan-Meier method. In the A-BrS, the annual incidences of cardiac events in A-BrS with family history of SCD, inferolateral J wave, wide QRS duration >90msec in lead V2, or inducible VT/VF by 3 extrastimuli were 0.7, 0.7, 0.6, and 0.3%/yr, respectively. Conclusions Our large-scaled multicentre study with long-term follow-up revealed the inducibility of ventricular tachyarrhythmias by up to two extrastimuli does not predict future cardiac events in A-BrS, even using non-aggressive uniform protocol. Rather, other parameters such as family history of SCD or inferolateral J wave might be helpful for risk assessment in A-BrS.

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Short-term skin problems in infants aged 0–3 months affect food allergies or atopic dermatitis until 2 years of age, among infants of the general population

Allergy Asthma & Clinical Immunology ◽

10.1186/s13223-019-0385-7 ◽

2019 ◽

Vol 15 (1) ◽

Cited By ~ 1

Author(s):

Kaori Yonezawa ◽

Megumi Haruna

Keyword(s):

Atopic Dermatitis ◽

Family History ◽

Food Allergies ◽

Control Group ◽

Short Term ◽

Skin Problem ◽

Significant Difference ◽

History Of

Abstract Background This study examined whether infants aged 0–3 months exhibited long-term effects of using a moisturizer skincare intervention and whether a short-term skin problem resulted in the subsequent development of food allergies or atopic dermatitis (AD) until the age of 2 years. Methods This study was a follow-up of a completed randomized control trial (RCT) of moisturizer skincare for infants aged 0–3 months. A self-reported questionnaire was mailed to the parents of children aged 1–2 years who had participated in the RCT. Data were analyzed using a Chi square test, by intention to treat analysis, and by multiple logistic regression. Results Of 155 infants, 22 (14.2%) and 28 (18.1%) had food allergies and AD/eczema until 2 years of age, respectively. No significant difference was seen in food allergies or AD between the group that received moisturizer skincare intervention and the control group. On the contrary, food allergies until 2 years of age were significantly associated with short-term (4–7 days) and long-term (more than 7 days) body skin problems occurring in the first 3 months of life, a family history of AD, and the time of starting complementary food. High value of face transepidermal water loss at 3 months of age was also associated with food allergies. Moreover, a short duration of severe diaper dermatitis during the first 3 months, a family history of AD, and being male were significantly associated with AD/eczema until the age of 2 years. Conclusions After adjusting for family history of AD, a short-term skin problem in the first 3 months of life was significantly associated with the development of food allergies or AD/eczema until the age of 2 years. Prevention or prompt treatment of skin problems in newborns is essential for preventing future allergic diseases. Trial registration This was a follow-up study conducted 2 years after the completed RCT of a moisturizer skincare intervention for early infants, which was registered in the University Hospital Medical Information Network Clinical Trials Registry (UMIN000013260)

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