Gary Chong - Academia.edu (original) (raw)

Papers by Gary Chong

Research paper thumbnail of Chronic pain and self-efficacy: The effects of gender, chronicity, and age

... indicating satisfactory reliability for the instrument's items (Gottlieb, 1984). A test ... more ... indicating satisfactory reliability for the instrument's items (Gottlieb, 1984). A test of reliability for the PBQ's factor II (positive self-efficacy) yielded Cronbach's alpha ratings of 0.70 for non-chronic pain patients and 0.73 for ... 15 Page 23. outcomes in 78% of the chronic pain cases. ...

Research paper thumbnail of Analysis of risks in critical infrastructure networks

Research paper thumbnail of Big Data Analytics Using Python Based Machine Learning: A Challenging Opportunity in Hospital Pharmacy

Background: In this study, we introduce the use of Python 3 as an effective tool to hold and anal... more Background: In this study, we introduce the use of Python 3 as an effective tool to hold and analyse Big Data in Healthcare. The aim of this study is to explore how big data may be utilized to support a better hospital pharmacy service, provide potential benefits, and describe the potential future use. Furthermore, population description and pattern are to be explored. Methods: We open Jupyter Notebook and then choose Python 3 to run the code. We used the Hospital Pharmacy Management System (PMS) Query Template System to extract data from 01 April 2019 to 31 March 2020. We used Python 3 to hold and analyse all the .CSV dataset. Results: The total number of dispensing records retrieved was 1,765,910. 127,337 patients paid 358,802 visits to our pharmacy with 381,060 prescriptions handled. For the 127,337 individual patients, 57% fall into 60-100 while 21% are from 80-100. 43% of the prescriptions had 1 or 2 items. 48,000 patients visited our medical clinic, 47,000 patients visited the...

Research paper thumbnail of A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Journal of medical genetics, Jan 17, 2015

Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes dependi... more Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2 displaying an attenuated phenotype identified by clinical genetic testing in seven Inuit families from Northern Quebec. Pathogenic characteristics of the PMS2 mutation NM_000535.5:c.2002A>G were studied using genotype-phenotype correlation, single-molecule expression detection and single genome microsatellite instability analysis. This PMS2 mutation generates a de novo splice site that competes with the authentic site. In homozygotes, expression of the full-length protein is reduced to a level barely detectable by conventional diagnostics. Median age at primary cancer diagnosis is 22 years am...

Research paper thumbnail of Reply: Capecitabine and mitomycin C in patients with metastatic colorectal cancer resistant to fluorouracil and irinotecan

British Journal of Cancer, 2006

Research paper thumbnail of The prognostic role of WHO classification, urinary 5-hydroxyindoleacetic acid and liver function tests in metastatic neuroendocrine carcinomas of the gastroenteropancreatic tract

British Journal of Cancer, 2007

The World Health Organisation (WHO) classification (2000) is widely used to classify neuroendocri... more The World Health Organisation (WHO) classification (2000) is widely used to classify neuroendocrine carcinomas (NECs), yet its prognostic value needs to be confirmed. In this study, patients with metastatic NECs (n=119) were classified according to WHO guidelines into well differentiated and poorly differentiated (WDNECs and PDNECs). Histological differentiation based on WHO criteria had the highest impact on overall survival (OS)

Research paper thumbnail of Interstitial lung disease in a patient treated with 5-fluorouracil and mitomycin C

Research paper thumbnail of Capecitabine and mitomycin C as third-line therapy for patients with metastatic colorectal cancer resistant to fluorouracil and irinotecan

British journal of …, 2005

Protracted venous infusion 5-fluorouracil (5FU) combined with mitomycin C (MMC) has demonstrated ... more Protracted venous infusion 5-fluorouracil (5FU) combined with mitomycin C (MMC) has demonstrated significant activity against metastatic colorectal cancer. Owing to potential synergy based upon upregulation of thymidine phosphorylase by MMC, the combination of capecitabine and ...

Research paper thumbnail of Comparison of PCR and Culture for Screening of Vancomycin-Resistant Enterococci (VRE): Highly Disparate Results for vanA and vanB

Journal of clinical …, 2009

We compared PCR to conventional culture for the detection of vancomycin-resistant enterococci (VR... more We compared PCR to conventional culture for the detection of vancomycin-resistant enterococci (VRE) in 30,835 rectal samples over a 3-year period. The positive and negative predictive values of vanB PCR were 1.42% and 99.9%, respectively. A positive vanB result by PCR is poorly predictive and necessitates culture for differentiation of VRE-positive and -negative individuals.

Research paper thumbnail of Extramedullary relapse after allogeneic bone marrow transplantation plus buffy-coat in two high risk patients

In order to obtain an additional graft versus leukemia effect (GVL) and rapid engraftment, donor ... more In order to obtain an additional graft versus leukemia effect (GVL) and rapid engraftment, donor leukocyte infusion (DLI) was added to unseparated, sex-mismatched allogeneic bone marrow transplantation in two male patients (age 21, 26) affected by high risk hematological malignancies (refractory T-ALL, refractory B-LBL in leukemic phase). Graft versus host disease (GVHD) prophylaxis consisted of methotrexate (MTX) alone. DLI were obtained after G-CSF 16 ug/kg/day sc. A total of 2.36 and 5.8 x 10(6)/kg MNC, 5.4 and 11 x 10(6)/kg CD34+ cells, 1.3 and 1.3 x 10(6)/kg CD3+ lymphocytes, respectively, were infused. Hemopoietic recovery occurred promptly. Complete chimerism was detected by cytogenetic examination. One patient developed an extramedullary relapse that first involved the cranial nerves, and then the testes, soft tissue and skin; the other patient developed central nervous system disease and then bilateral paravertebral masses with progressive paraplegia. Despite complete medullary remission with normal female karyotype, both patients died from extramedullary progression of their disease. Our observation shows that, at least in high risk patients, no additional GVHD or GVL effect was evident after donor leukocyte infusion. Extramedullary relapse was not prevented despite good control of medullary disease.

Research paper thumbnail of Visualization techniques for analyzing non-dominant pareto optimality

Research paper thumbnail of Preliminary statement on the current progress of multi-objective evolutionary algorithm performance measurement

Research paper thumbnail of A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers

Annals of Oncology, 2009

Background: MMRpro, prediction of mutations in MLH1 and MLH2 (PREMM 1,2) and MMRpredict are model... more Background: MMRpro, prediction of mutations in MLH1 and MLH2 (PREMM 1,2) and MMRpredict are models which were developed to predict the probability that an individual carries a Lynch syndrome-causing mutation. Each model utilizes data from personal and family histories of cancer. To date, no studies have compared these models in a cancer genetics clinic. The purpose of this study was to determine each model's ability to predict the probability of carrying a Lynch syndrome-causing mutation in individuals with a family history of colorectal cancer and to determine their clinical applicability. Methods: We obtained family pedigrees from 81 individuals who presented for Lynch syndrome testing due to a personal and/or family history of cancer. Data from each pedigree were entered into the models and analyzed using SPSS. Results: We found that MMRpredict, PREMM 1,2 and MMRpro showed similar performances with areas under the receiver-operating characteristic curve of 0.731, 0.765 and 0.732, respectively. MMRpro showed the least dispersion of mutation probability estimates with a P value of 0.205, compared with 0.034 for PREMM 1,2 and 0.001 for MMRpredict. Conclusion: We found all three carried out well in a cancer genetics setting, with PREMM 1,2 giving slightly better estimates. There were some significant discrepancies between the models in cases where the proband had endometrial cancer.

Research paper thumbnail of Seismic reflection image revealing offset of Andean subduction-zone earthquake locations into oceanic mantle

... Bolivia); Edgar Ricaldi (Uni-versidad Mayor de San Andres, Casilla 4836, La Paz, Bolivia); He... more ... Bolivia); Edgar Ricaldi (Uni-versidad Mayor de San Andres, Casilla 4836, La Paz, Bolivia); HernaÂn ... One shotpoint was offshore, and one was at the Quebrada Blanca mine using normal ... Comte, D., Roecker, SW & SuaÂrez, G. Velocity structure in northern Chile: evidence of ...

Research paper thumbnail of Seismic images of accretive and erosive subduction zones from the Chilean margin

The Andes, 2006

Abstract. Modern seismic imaging methods were used to study the subduction processes of the South... more Abstract. Modern seismic imaging methods were used to study the subduction processes of the South American convergent margin. The data came from reflection and from wide-angle/refraction experi-ments acquired within the framework of the Collaborative Research Center ...

Research paper thumbnail of Antilymphocyte globulins versus OKT3 as prophylactic treatment in highly sensitized renal transplant recipients

Transplant International, 1994

Monoclonal antibodies were proposed as an effective prophylactic immunosuppressive treatment in h... more Monoclonal antibodies were proposed as an effective prophylactic immunosuppressive treatment in highly sensitized patients (HSP). In this study we compared the results obtained in HSP treated with OKT3 or antilymphocyte globulins (ALG). From January 1989 to January 1993, 38 transplantations were performed in patients with high panel reactive antibodies (PRA>50%). The group comprised 22 women and 16 men, mean age 45 ± 2 (23–67) years; ten were second grafts and two were third grafts. Peak PR A was ≥ 80% in 24 sensitized patients and 50–80% in 14 sensitized patients. Patients were randomly assigned to either prophylactic OKT3 (n= 15) or ALG (n= 23). Oral cyclosporin A (10 mg/kg) was started at day 8 in the OKT3 group and when the serum creatinine level decreased to 200 μymol/l in the ALG group. OKT3 was systematically withdrawn on day 10 but ALG was stopped only when total blood cyclosporin A concentration reached 150–200 ng/ml. In both groups, azathioprine (150 mg/day) and prednis...

Research paper thumbnail of Evolving trajectory controller networks from linear approximation model networks

Pump Industry Analyst, 2000

Simple, linear classical controllers are highly popular in industrial applications. However, most... more Simple, linear classical controllers are highly popular in industrial applications. However, most controllers have to be tuned and manually re-tuned on a trial and error basis at every operating level. This is particularly difficult when the plant to be controlled is significantly nonlinear. The deficiency in localised linearised models associated with `local model networks' has been overcome by the introduction

Research paper thumbnail of Evidence-based architectural design: case studies of applied evidence (hardback)

Recherche, 2010

... Chapter 4: The Natural And Physical Sciences. more context: background. interviews + case stu... more ... Chapter 4: The Natural And Physical Sciences. more context: background. interviews + case studies. Sheila Kennedy, Kennedy and Violich. James Timberlake, Kieran Timberlake. Vivian Loftness, Carnegie Mellon University. Edward Arens, University of California. ...

Research paper thumbnail of Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

Clinical …

Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in spec... more Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder mutations in MSH6 were analyzed in 2685 colorectal cancer (CRC) cases, 337 endometrial cancer (EnCa) cases and 3310 healthy controls of Ashkenazi Jewish (AJ) descent from population-based and hospital-based case-control studies in Israel, Canada and the United States. The carriers were haplotyped and the age of the mutations was estimated. MSH6 *c.3984_3987dupGTCA was found in 8/2685 CRC cases, 2/337 EnCa cases, and 1/3310 controls, consistent with a high risk of CRC (odds ratio (OR) = 9.9, 95% confidence interval (CI) = 1.2-78.9, p = 0.0079) and a very high risk of EnCa (OR = 19.6, 95% CI = 1.8-217.2, p = 0.0006). MSH6 *c.3959_3962delCAAG was identified in 3/2685 CRC cases, 2/337 EnCa cases and no controls. Each mutation was observed on separate conserved haplotypes. MSH6 *c.3984_3987dupGTCA and MSH6 *c.3959_3962delCAAG probably arose around 585 CE and 685 CE, respectively. No carriers were identified in Sephardi Jews (450 cases and 490 controls). Truncating mutations MSH6 *c.3984_3987dupGTCA and MSH6 *c.3959_3962delCAAG cause Lynch syndrome and are founder mutations in Ashkenazi Jews. Together with other AJ founder mutations, they contribute substantially to the incidence of CRC and EnCa and are important tools for the early diagnosis and appropriate management of AJ Lynch syndrome patients.

Research paper thumbnail of Active tectonics and kinematics of the Chomache fault (Salar Grande, Northern Chile)

Research paper thumbnail of Chronic pain and self-efficacy: The effects of gender, chronicity, and age

... indicating satisfactory reliability for the instrument's items (Gottlieb, 1984). A test ... more ... indicating satisfactory reliability for the instrument's items (Gottlieb, 1984). A test of reliability for the PBQ's factor II (positive self-efficacy) yielded Cronbach's alpha ratings of 0.70 for non-chronic pain patients and 0.73 for ... 15 Page 23. outcomes in 78% of the chronic pain cases. ...

Research paper thumbnail of Analysis of risks in critical infrastructure networks

Research paper thumbnail of Big Data Analytics Using Python Based Machine Learning: A Challenging Opportunity in Hospital Pharmacy

Background: In this study, we introduce the use of Python 3 as an effective tool to hold and anal... more Background: In this study, we introduce the use of Python 3 as an effective tool to hold and analyse Big Data in Healthcare. The aim of this study is to explore how big data may be utilized to support a better hospital pharmacy service, provide potential benefits, and describe the potential future use. Furthermore, population description and pattern are to be explored. Methods: We open Jupyter Notebook and then choose Python 3 to run the code. We used the Hospital Pharmacy Management System (PMS) Query Template System to extract data from 01 April 2019 to 31 March 2020. We used Python 3 to hold and analyse all the .CSV dataset. Results: The total number of dispensing records retrieved was 1,765,910. 127,337 patients paid 358,802 visits to our pharmacy with 381,060 prescriptions handled. For the 127,337 individual patients, 57% fall into 60-100 while 21% are from 80-100. 43% of the prescriptions had 1 or 2 items. 48,000 patients visited our medical clinic, 47,000 patients visited the...

Research paper thumbnail of A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Journal of medical genetics, Jan 17, 2015

Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes dependi... more Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2 displaying an attenuated phenotype identified by clinical genetic testing in seven Inuit families from Northern Quebec. Pathogenic characteristics of the PMS2 mutation NM_000535.5:c.2002A>G were studied using genotype-phenotype correlation, single-molecule expression detection and single genome microsatellite instability analysis. This PMS2 mutation generates a de novo splice site that competes with the authentic site. In homozygotes, expression of the full-length protein is reduced to a level barely detectable by conventional diagnostics. Median age at primary cancer diagnosis is 22 years am...

Research paper thumbnail of Reply: Capecitabine and mitomycin C in patients with metastatic colorectal cancer resistant to fluorouracil and irinotecan

British Journal of Cancer, 2006

Research paper thumbnail of The prognostic role of WHO classification, urinary 5-hydroxyindoleacetic acid and liver function tests in metastatic neuroendocrine carcinomas of the gastroenteropancreatic tract

British Journal of Cancer, 2007

The World Health Organisation (WHO) classification (2000) is widely used to classify neuroendocri... more The World Health Organisation (WHO) classification (2000) is widely used to classify neuroendocrine carcinomas (NECs), yet its prognostic value needs to be confirmed. In this study, patients with metastatic NECs (n=119) were classified according to WHO guidelines into well differentiated and poorly differentiated (WDNECs and PDNECs). Histological differentiation based on WHO criteria had the highest impact on overall survival (OS)

Research paper thumbnail of Interstitial lung disease in a patient treated with 5-fluorouracil and mitomycin C

Research paper thumbnail of Capecitabine and mitomycin C as third-line therapy for patients with metastatic colorectal cancer resistant to fluorouracil and irinotecan

British journal of …, 2005

Protracted venous infusion 5-fluorouracil (5FU) combined with mitomycin C (MMC) has demonstrated ... more Protracted venous infusion 5-fluorouracil (5FU) combined with mitomycin C (MMC) has demonstrated significant activity against metastatic colorectal cancer. Owing to potential synergy based upon upregulation of thymidine phosphorylase by MMC, the combination of capecitabine and ...

Research paper thumbnail of Comparison of PCR and Culture for Screening of Vancomycin-Resistant Enterococci (VRE): Highly Disparate Results for vanA and vanB

Journal of clinical …, 2009

We compared PCR to conventional culture for the detection of vancomycin-resistant enterococci (VR... more We compared PCR to conventional culture for the detection of vancomycin-resistant enterococci (VRE) in 30,835 rectal samples over a 3-year period. The positive and negative predictive values of vanB PCR were 1.42% and 99.9%, respectively. A positive vanB result by PCR is poorly predictive and necessitates culture for differentiation of VRE-positive and -negative individuals.

Research paper thumbnail of Extramedullary relapse after allogeneic bone marrow transplantation plus buffy-coat in two high risk patients

In order to obtain an additional graft versus leukemia effect (GVL) and rapid engraftment, donor ... more In order to obtain an additional graft versus leukemia effect (GVL) and rapid engraftment, donor leukocyte infusion (DLI) was added to unseparated, sex-mismatched allogeneic bone marrow transplantation in two male patients (age 21, 26) affected by high risk hematological malignancies (refractory T-ALL, refractory B-LBL in leukemic phase). Graft versus host disease (GVHD) prophylaxis consisted of methotrexate (MTX) alone. DLI were obtained after G-CSF 16 ug/kg/day sc. A total of 2.36 and 5.8 x 10(6)/kg MNC, 5.4 and 11 x 10(6)/kg CD34+ cells, 1.3 and 1.3 x 10(6)/kg CD3+ lymphocytes, respectively, were infused. Hemopoietic recovery occurred promptly. Complete chimerism was detected by cytogenetic examination. One patient developed an extramedullary relapse that first involved the cranial nerves, and then the testes, soft tissue and skin; the other patient developed central nervous system disease and then bilateral paravertebral masses with progressive paraplegia. Despite complete medullary remission with normal female karyotype, both patients died from extramedullary progression of their disease. Our observation shows that, at least in high risk patients, no additional GVHD or GVL effect was evident after donor leukocyte infusion. Extramedullary relapse was not prevented despite good control of medullary disease.

Research paper thumbnail of Visualization techniques for analyzing non-dominant pareto optimality

Research paper thumbnail of Preliminary statement on the current progress of multi-objective evolutionary algorithm performance measurement

Research paper thumbnail of A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers

Annals of Oncology, 2009

Background: MMRpro, prediction of mutations in MLH1 and MLH2 (PREMM 1,2) and MMRpredict are model... more Background: MMRpro, prediction of mutations in MLH1 and MLH2 (PREMM 1,2) and MMRpredict are models which were developed to predict the probability that an individual carries a Lynch syndrome-causing mutation. Each model utilizes data from personal and family histories of cancer. To date, no studies have compared these models in a cancer genetics clinic. The purpose of this study was to determine each model's ability to predict the probability of carrying a Lynch syndrome-causing mutation in individuals with a family history of colorectal cancer and to determine their clinical applicability. Methods: We obtained family pedigrees from 81 individuals who presented for Lynch syndrome testing due to a personal and/or family history of cancer. Data from each pedigree were entered into the models and analyzed using SPSS. Results: We found that MMRpredict, PREMM 1,2 and MMRpro showed similar performances with areas under the receiver-operating characteristic curve of 0.731, 0.765 and 0.732, respectively. MMRpro showed the least dispersion of mutation probability estimates with a P value of 0.205, compared with 0.034 for PREMM 1,2 and 0.001 for MMRpredict. Conclusion: We found all three carried out well in a cancer genetics setting, with PREMM 1,2 giving slightly better estimates. There were some significant discrepancies between the models in cases where the proband had endometrial cancer.

Research paper thumbnail of Seismic reflection image revealing offset of Andean subduction-zone earthquake locations into oceanic mantle

... Bolivia); Edgar Ricaldi (Uni-versidad Mayor de San Andres, Casilla 4836, La Paz, Bolivia); He... more ... Bolivia); Edgar Ricaldi (Uni-versidad Mayor de San Andres, Casilla 4836, La Paz, Bolivia); HernaÂn ... One shotpoint was offshore, and one was at the Quebrada Blanca mine using normal ... Comte, D., Roecker, SW & SuaÂrez, G. Velocity structure in northern Chile: evidence of ...

Research paper thumbnail of Seismic images of accretive and erosive subduction zones from the Chilean margin

The Andes, 2006

Abstract. Modern seismic imaging methods were used to study the subduction processes of the South... more Abstract. Modern seismic imaging methods were used to study the subduction processes of the South American convergent margin. The data came from reflection and from wide-angle/refraction experi-ments acquired within the framework of the Collaborative Research Center ...

Research paper thumbnail of Antilymphocyte globulins versus OKT3 as prophylactic treatment in highly sensitized renal transplant recipients

Transplant International, 1994

Monoclonal antibodies were proposed as an effective prophylactic immunosuppressive treatment in h... more Monoclonal antibodies were proposed as an effective prophylactic immunosuppressive treatment in highly sensitized patients (HSP). In this study we compared the results obtained in HSP treated with OKT3 or antilymphocyte globulins (ALG). From January 1989 to January 1993, 38 transplantations were performed in patients with high panel reactive antibodies (PRA>50%). The group comprised 22 women and 16 men, mean age 45 ± 2 (23–67) years; ten were second grafts and two were third grafts. Peak PR A was ≥ 80% in 24 sensitized patients and 50–80% in 14 sensitized patients. Patients were randomly assigned to either prophylactic OKT3 (n= 15) or ALG (n= 23). Oral cyclosporin A (10 mg/kg) was started at day 8 in the OKT3 group and when the serum creatinine level decreased to 200 μymol/l in the ALG group. OKT3 was systematically withdrawn on day 10 but ALG was stopped only when total blood cyclosporin A concentration reached 150–200 ng/ml. In both groups, azathioprine (150 mg/day) and prednis...

Research paper thumbnail of Evolving trajectory controller networks from linear approximation model networks

Pump Industry Analyst, 2000

Simple, linear classical controllers are highly popular in industrial applications. However, most... more Simple, linear classical controllers are highly popular in industrial applications. However, most controllers have to be tuned and manually re-tuned on a trial and error basis at every operating level. This is particularly difficult when the plant to be controlled is significantly nonlinear. The deficiency in localised linearised models associated with `local model networks' has been overcome by the introduction

Research paper thumbnail of Evidence-based architectural design: case studies of applied evidence (hardback)

Recherche, 2010

... Chapter 4: The Natural And Physical Sciences. more context: background. interviews + case stu... more ... Chapter 4: The Natural And Physical Sciences. more context: background. interviews + case studies. Sheila Kennedy, Kennedy and Violich. James Timberlake, Kieran Timberlake. Vivian Loftness, Carnegie Mellon University. Edward Arens, University of California. ...

Research paper thumbnail of Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

Clinical …

Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in spec... more Founder mutations are an important cause of Lynch syndrome and facilitate genetic testing in specific ethnic populations. Two putative founder mutations in MSH6 were analyzed in 2685 colorectal cancer (CRC) cases, 337 endometrial cancer (EnCa) cases and 3310 healthy controls of Ashkenazi Jewish (AJ) descent from population-based and hospital-based case-control studies in Israel, Canada and the United States. The carriers were haplotyped and the age of the mutations was estimated. MSH6 *c.3984_3987dupGTCA was found in 8/2685 CRC cases, 2/337 EnCa cases, and 1/3310 controls, consistent with a high risk of CRC (odds ratio (OR) = 9.9, 95% confidence interval (CI) = 1.2-78.9, p = 0.0079) and a very high risk of EnCa (OR = 19.6, 95% CI = 1.8-217.2, p = 0.0006). MSH6 *c.3959_3962delCAAG was identified in 3/2685 CRC cases, 2/337 EnCa cases and no controls. Each mutation was observed on separate conserved haplotypes. MSH6 *c.3984_3987dupGTCA and MSH6 *c.3959_3962delCAAG probably arose around 585 CE and 685 CE, respectively. No carriers were identified in Sephardi Jews (450 cases and 490 controls). Truncating mutations MSH6 *c.3984_3987dupGTCA and MSH6 *c.3959_3962delCAAG cause Lynch syndrome and are founder mutations in Ashkenazi Jews. Together with other AJ founder mutations, they contribute substantially to the incidence of CRC and EnCa and are important tools for the early diagnosis and appropriate management of AJ Lynch syndrome patients.

Research paper thumbnail of Active tectonics and kinematics of the Chomache fault (Salar Grande, Northern Chile)