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Cancers (Basel) 2019 Mar 13;11(3). Epub 2019 Mar 13.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, 08036 Barcelona, Spain.

Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial CRC. An integrated analysis of germline and tumor whole-exome sequencing data was performed in 18 unrelated CRC families. Read More

Mol Aspects Med 2019 Mar 9. Epub 2019 Mar 9.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany. Electronic address:

The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary cancer genes found mutated in CRC patients, strategies used to identify novel causal genes, and review of candidate genes that have been proposed to predispose to CRC and/or colonic polyposis. We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. Read More

Cancers (Basel) 2019 Mar 11;11(3). Epub 2019 Mar 11.

Medical Oncology Department, Ramon y Cajal Research Institute, University Hospital, IRYCIS, 28034 Madrid, Spain.

microRNAs (miRNA) expression in colorectal (CR) primary tumours can facilitate a more precise molecular characterization. We identified and validated a miRNA profile associated with clinical and histopathological features that might be useful for patient stratification. In situ hybridization array using paraffin-embedded biopsies of CR primary tumours were used to screen 1436 miRNAs. Read More

Cancer 2019 Mar 12. Epub 2019 Mar 12.

Public Health Ontario, Toronto, Ontario, Canada.

Background: Having a first-degree relative (FDR) with colorectal cancer (CRC) is a significant risk factor for CRC. Counseling for FDRs regarding CRC risk factors and personalized risk is important to improve knowledge and screening compliance.

Methods: A 3-arm randomized controlled trial compared tailored in-person and telephone CRC counseling interventions with controls among FDRs who were not mutation carriers for known hereditary cancer syndromes, but who were considered to be at an increased risk based on family history. Read More

J Cancer Res Clin Oncol 2019 Mar 11. Epub 2019 Mar 11.

Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, 00380, South Korea.

Purpose: The 14th Japan-Korea joint symposium on cancer and aging research was held at an auditorium of Saga University, Japan, May 31-Jun 2, 2018. Participants presented 31 oral and 21 poster presentations, two lectures at a luncheon seminar, plus special lectures from two Korean Emeritus Professors and founders of our joint symposia. The essential parts of the lectures are reviewed here. Read More

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair () variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal.

Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance. Read More

ANZ J Surg 2019 Mar 11. Epub 2019 Mar 11.

Faculty of Medicine, St Vincent's Clinical School, The University of New South Wales, Sydney, New South Wales, Australia.

Background: To determine the proportion of patients with colorectal cancer and abnormal immunohistochemistry testing of tumour tissue who were referred to a cancer genetic clinic for genetic counselling and possible germline testing of a blood sample for Lynch syndrome.

Methods: This is a retrospective cohort study of patients with colorectal cancer and abnormal immunohistochemistry tumour tissue testing from St Vincent's Hospital (between November 2007 and December 2016). Patient list was compared against a state-wide database TrakGene to ascertain the overall referral rate for these patients. Read More

Cancer 2019 Mar 11. Epub 2019 Mar 11.

Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Colorectal cancer (CRC) incidence is increasing in adults younger than 50 years. This study evaluated clinical and molecular features to identify those features unique to early-onset CRC that differentiate these patients from patients 50 years old or older.

Methods: Baseline characteristics were evaluated according to the CRC onset age with 3 independent cohorts. Read More

Pathology 2019 Mar 6. Epub 2019 Mar 6.

Envoi Specialist Pathologists, Brisbane, Qld, Australia; Faculty of Medicine, University of Queensland, Brisbane, Qld, Australia; Department of Pathology, University of Melbourne, Melbourne, Vic, Australia. Electronic address:

Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. Read More

Annu Rev Genomics Hum Genet 2019 Mar 8. Epub 2019 Mar 8.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.

Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in the mismatch repair genes and is the most common etiology of hereditary colorectal cancer. While Lynch syndrome was initially defined by the clinical Amsterdam criteria, these criteria lack the sensitivity needed for clinical utility. This review covers the evolution of screening for Lynch syndrome from the use of tumor microsatellite instability and/or somatic alterations in mismatch repair protein expression by immunohistochemistry to the newest methods using next-generation sequencing. Read More

Dig Dis 2019 Mar 5:1-6. Epub 2019 Mar 5.

Clinic for Gastroenterology and Hepatology, Clinical Center of Serbia, Belgrade,

Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis. All 3 syndromes increase the potential for the development of colorectal cancer. AFAP is diagnosed if less than 100 adenomas are detected in the colon at presentation. Read More

Prev Med 2019 Feb 25;123:12-19. Epub 2019 Feb 25.

National Human Genome Research Institute, Bethesda, MD, United States of America; National Cancer Institute, Rockville, MD, United States of America.

We examined what proportion of the U.S. population with no personal cancer history reported receiving either genetic counseling or genetic testing for cancer risk, and also the association of these behaviors with cancer risk perceptions. Read More

Hum Mutat 2019 Feb 28. Epub 2019 Feb 28.

Montpellier University Hospital, Department of Pathology and Oncobiology, Montpellier, France.

Lynch syndrome (LS) is the most frequent cause of hereditary colorectal cancer. A subset of patients with a history of LS shows no causal germline pathogenic alteration and are identified as having Lynch-like syndrome (LLS). Alu retrotransposons are the most abundant mobile DNA sequences in the human genome and have been associated with numerous human cancers by either disrupting coding regions or altering epigenetic modifications or splicing signals. Read More

Mol Genet Genomic Med 2019 Feb 27:e605. Epub 2019 Feb 27.

Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Background: Colorectal cancer (CRC) cases with an age of onset <40 years suggests a germline genetic cause. In total, 51 simplex cases were included to test the hypothesis of CRC as a mendelian trait caused by either heterozygous autosomal dominant or bi-allelic autosomal recessive pathogenic variants.

Methods: The cohort was whole exome sequenced (WES) at 100× coverage. Read More

Dis Colon Rectum 2019 Feb 14. Epub 2019 Feb 14.

Sanford R. Weiss, M.D., Center for Hereditary Colorectal Cancer, Department of Colorectal Surgery, Digestive Diseases, Cleveland Clinic Foundation, Cleveland, Ohio.

Background: Rupture of a superior mesenteric artery pseudoaneurysm is a rare but potentially lethal complication in patients with familial adenomatous polyposis and desmoid disease.

Objective: We report our experience in the management of such patients with a rare but significant and life-threatening condition.

Design: This is a descriptive study of a small series of patients. Read More

Pathologe 2019 Feb;40(1):21-35

Pathologisches Institut, Medizinische Fakultät, Ludwig-Maximilians-Universität München, München, Deutschland.

The present article summarises the relevant aspects of the S3 guidelines on endometrioid carcinomas. The recommendations include the processing rules of fractional currettings as well as for hysterectomy specimens and lymph node resections (including sentinel lymph nodes). Besides practical aspects, the guidelines consider the needs of the clinicians for appropriate surgical and radiotherapeutic treatment of the patients. Read More

Cancer Cell 2019 Feb;35(2):256-266.e5

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584 CT Utrecht, The Netherlands. Electronic address:

Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Read More

J Med Genet 2019 Feb 11. Epub 2019 Feb 11.

Thoracic and Surgical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.

Introduction: Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. There is considerable heterogeneity in its clinical manifestations. This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC. Read More

Clin Gastroenterol Hepatol 2019 Feb 8. Epub 2019 Feb 8.

Danish Polyposis Registry, Gastro Unit, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.

Background & Aims: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that increases risk for colorectal cancer (CRC). We assessed changes in the incidence and prevalence of CRC, and survival times, of patients with FAP participating in the Danish follow-up study.

Methods: We collected data from the Danish Polyposis Registry, a nationwide, complete registry of patients with FAP that includes clinical information, surgical procedures, follow-up findings, and pathology reports. Read More

Cancer Med 2019 Feb 7. Epub 2019 Feb 7.

Center for Clinical Genetics and Genomics, Providence St. Joseph Health, Los Angeles, California.

Background: Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited. Research describing the epidemiology of cancer genetic counseling has mainly focused on isolated populations, a single gender (women) and a single condition (hereditary breast and ovarian cancer). Study findings to date are contradictory, making it unclear what, if any, disparities in receipt of cancer genetic counseling exist. Read More

J Pathol 2019 Apr;247(5):535-538

RECAMO, Masaryk Memorial Cancer Institute, Brno, Czech Republic.

In this Annual Review Issue of The Journal of Pathology, we present 15 invited reviews on topical aspects of pathology, ranging from the impacts of the microbiome in human disease through mechanisms of cell death and autophagy to recent advances in immunity and the uses of genomics for understanding, classifying and treating human cancers. Each of the reviews is authored by experts in their fields and our intention is to provide comprehensive updates in specific areas of pathology in which there has been considerable recent progress. Copyright © 2019 Pathological Society of Great Britain and Ireland. Read More

Dis Colon Rectum 2019 Apr;62(4):429-437

Department of Clinical Cancer Prevention, University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Genomic profiling of colorectal cancer aims to identify actionable somatic mutations but can also discover incidental germline findings.

Objective: The purpose of this study was to report the detection of pathogenic germline variants that confer heritable cancer predisposition.

Design: This was a retrospective study. Read More

Fam Cancer 2019 Feb 7. Epub 2019 Feb 7.

Center for Health Research, Kaiser Permanente Northwest, 3800 N. Interstate Avenue, Portland, OR, 97227, USA.

A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. Read More

Mod Pathol 2019 Feb 5. Epub 2019 Feb 5.

Department of Pathology, Central Finland Central Hospital, Jyväskylä, Finland.

The CD274 (programmed cell death ligand-1, PD-L1)/PDCD1 (programmed cell death-1, PD-1) pathway is crucial suppressor of the cytotoxic immune response. Antibodies targeting CD274 or PDCD1 have been revealed to be effective in several malignancies. In colorectal cancer, the response to CD274/PDCD1 blockage is associated with microsatellite instability. Read More

J Cancer 2019 1;10(3):643-653. Epub 2019 Jan 1.

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.

Colorectal cancer (CRC) is a common malignant tumor of the digestive system worldwide, associated with hereditary genetic features. CRC with a Mendelian genetic predisposition accounts for approximately 5-10% of total CRC cases, mainly caused by a single germline mutation of a CRC susceptibility gene. The main subtypes of hereditary CRC are hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). Read More

Int J Cancer 2019 Jan 29. Epub 2019 Jan 29.

Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d' Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

Early-onset (<50 years-old) nonpolyposis nonfamilial colorectal cancer (EO NP NF CRC) is a common clinical challenge. Although Lynch syndrome (LS) is associated with EO CRC, the frequency of this syndrome in the EO NF cases remains unknown. Besides, mismatch repair deficient (MMRd) CRCs with negative MMR gene testing have recently been described in up to 60% of cases and termed "Lynch-like syndrome" (LLS). Read More

Ann Surg Oncol 2019 Apr 25;26(4):1118-1126. Epub 2019 Jan 25.

Department of Surgery, Chonnam National University Hospital and Medical School, Gwangju, Korea.

Purpose: A family history (FH) of colorectal cancer (CRC) increases the risk for development of CRC, but the impact of FH of CRC on survival from sporadic CRC is unclear. This study investigated the prognostic impact of FH of CRC on the recurrence and survival of patients with sporadic CRC.

Methods: We reviewed the records of patients with sporadic CRC from two tertiary referral hospitals in Korea who underwent surgical resection between May 2007 and September 2013. Read More

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r = 0. Read More

Oncologist 2019 Jan 25. Epub 2019 Jan 25.

Medical Clinic III-Hematology, Oncology, Palliative Medicine, Department of Internal Medicine, Rostock University Medical Center, University of Rostock, Rostock, Germany

Colorectal cancer (CRC) is rare in young patients without a confirmed family history of cancer. Reports of an increased prevalence of / mutations in young patients with colorectal cancer have raised awareness and support routine genetic testing for patients with early-onset tumors. In cases of CRC without proven -germline mutation, molecular analyses are warranted to confirm or rule out other familial CRC syndromes. Read More

Cancer Lett 2019 Apr 21;447:86-92. Epub 2019 Jan 21.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Spain. Electronic address:

Somatic epigenetic inactivation of the DNA repair protein O6-methylguanine DNA methyltransferase (MGMT) is frequent in colorectal cancer (CRC); however, its involvement in CRC predisposition remains unexplored. We assessed the role and relevance of MGMT germline mutations and epimutations in familial and early-onset CRC. Mutation and promoter methylation screenings were performed in 473 familial and/or early-onset mismatch repair-proficient nonpolyposis CRC cases. Read More

Semin Oncol Nurs 2019 02 19;35(1):58-78. Epub 2019 Jan 19.

Objectives: To review the most common hereditary colorectal cancer syndromes with known associated mutated genes, associated cancer risks, and current screening and prevention current.

Data Sources: Online search of PubMed, EBSCOhost, and Medline, review of the literature for each syndrome described.

Conclusion: Hereditary colon cancer accounts for approximately 10% of all colorectal cancers in the United States. Read More

Acta Biomed 2019 01 15;89(4):463-469. Epub 2019 Jan 15.

Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute (CHRI), Chettinad Academy of Research and Education (CARE), Kelambakkam, Chennai-603103, India.

Colorectal cancer found to be the most commonly occurring cancer worldwide which can be prevented by screening and its curable if diagnosed early. Lynch syndrome/HNPCC being an autosomal genetic disease and propensity in forming colorectal cancer is inherited wherein genomic instabilities and epigenetic changes are being the characteristic forms in hereditary cancers. It is very important to determine the polymorphism in several DNA repairing genes such as ATM, RAD51, XRCC2, XRCC3 and XRCC9 to study the risk exploring both the prognosis and the developing of colorectal cancer. Read More

JCO Clin Cancer Inform 2018 12;2:1-11

Holly LaDuca, Stephanie Gutierrez, Amal Yussuf, Nadia Ho, Jonathan Pepper, Patrick Reineke, Kirsten Blanco, Carolyn Horton, Jill S. Dolinsky, Ambry Genetics, Aliso Viejo; Rachel McFarland, University of California Irvine, Irvine, CA; and Taylor Cain, Sarah Lawrence College, Bronxville, NY.

Purpose: Clinical history data reported on test requisition forms (TRFs) for hereditary cancer multigene panel testing (MGPT) are routinely used by genetic testing laboratories. More recently, publications have incorporated TRF-based clinical data into studies exploring yield of testing by phenotype and estimating cancer risks for mutation carriers. We aimed to assess the quality of TRF data for patients undergoing MGPT. Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Dec;43(12):1323-1327

Department of Gastroenterology, the Seventh Medical Center of PLA General Hospital, Beijing 100700, China.

Objective: To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS).
 Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017.
 Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. Read More

Dis Colon Rectum 2019 02;62(2):189-195

Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.

Background: Many studies have indicated that colon and rectal cancers differ in etiology and histology.

Objective: The aim of this study was to investigate whether the associations of colon and rectal cancers with any other (discordant) cancer were site specific.

Design: A novel approach was implemented in which cancer risks were analyzed in families with increasing numbers of family members diagnosed with defined cancers. Read More

Clin Colorectal Cancer 2018 Dec 20. Epub 2018 Dec 20.

Unit of Pathology, Department of Medicine and Surgery, University of Insubria, Varese, Italy; Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy.

Background: Approximately 10% of metastatic colorectal cancer (mCRC) cases will harbor the BRAF p.V600E mutation (BRAF-mCRC) and have been associated with a poor prognosis. Although they are usually considered a unique clinical entity, biologic heterogeneity has been described. Read More

Colorectal Dis 2019 Jan 13. Epub 2019 Jan 13.

Department of Surgery, Odense University Hospital, Odense, Denmark.

Aim: Resources used in surveillance colonoscopies are taking up an increasing proportion of colonoscopy capacity. Colon capsule endoscopy (CCE) is a promising technique for noninvasive investigation of the colon. We aimed to investigate CCE as a possible filter in colonic surveillance with the primary outcome of reducing the number of colonoscopies. Read More

Fam Cancer 2019 Jan 9. Epub 2019 Jan 9.

Dana-Farber Cancer Institute, Boston, MA, USA.

Lynch syndrome is one of the most common hereditary cancer predisposition syndromes and is associated with increased risks of colorectal and endometrial cancer, as well as multiple other cancer types. While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been known for some time, there have been significant advances recently in diagnostic testing and the understanding of the molecular pathogenesis of Lynch tumors. There is also an increased awareness that the clinical phenotype and cancer risk varies by specific mismatch repair mutation, which in turn has implications on surveillance strategies for patients. Read More

Health Sci Rep 2018 Jul 14;1(7):e43. Epub 2018 Jun 14.

Department of Pathology Duke University School of Medicine Durham NC USA.

Background: Lynch syndrome (LS) accounts for 5% of all endometrial cancer (EC) cases and 4% of all lifetime risk of developing colorectal cancer. While current guidelines recommend LS screening for all patients with newly diagnosed colorectal cancer, there is no such guideline for screening patients with EC.

Discussion: This review addresses LS screening and discusses algorithms for testing patients in the setting of newly diagnosed EC. Read More

J Zhejiang Univ Sci B 2019 Jan.;20(1):105-108

Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.

Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Read More

Pathol Oncol Res 2019 Jan 6. Epub 2019 Jan 6.

Institute of Pathology, University of Cologne Medical School, Kerpener Str. 62, 50937, Cologne, Germany.

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is caused by germline mutations of mismatch-repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. MLH1-/PMS2-deficient colorectal carcinomas might be HNPCC-associated but also caused by MLH1-promoter methylation in sporadic colon carcinoma. This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Read More

Fam Cancer 2019 Jan 2. Epub 2019 Jan 2.

GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.

Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory. Read More

Gastrointest Endosc 2018 Dec 28. Epub 2018 Dec 28.

Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, Ohio, USA; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio, USA; Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA.

Background And Aims: Gastric cancer (GC) is a newly described cancer risk in Western patients with familial adenomatous polyposis (FAP). Little is known about clinical, endoscopic, and pathologic features associated with FAP-related GC. We compared these features in FAP patients with and without GC. Read More

Histol Histopathol 2018 Dec 28:18079. Epub 2018 Dec 28.

Cancer Molecular Pathology, School of Medicine, Griffith University, Gold Coast, Queensland, Australia.

The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. Read More

Zhonghua Fu Chan Ke Za Zhi 2018 Dec;53(12):823-830

Department of Pathology, General Hospital of PLA, Beijing 100853, China.

To explore the expression and clinical significance of mismatch repair (MMR) protein and MLH1 promoter methylation testing in endometrial cancer (EC) . A total of 420 cases with EC diagnosed by the surgical pathology examination from the Department of Pathology of PLA General Hospital, MLH1, MSH2, MSH6 and PMS2 protein in EC were detected by immunohistochemistry and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) testing. (1) Of the 420 tumor cases, the total expression loss rate of MMR protein was 34. Read More

J Pathol 2019 Apr 20;247(5):574-588. Epub 2019 Feb 20.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

This article reviews genes and syndromes associated with predisposition to colorectal cancer (CRC), with an overview of gene variant classification. We include updates on the application of preventive and therapeutic measures, focusing on the use of non-steroidal anti-inflammatory drugs (NSAIDs) and immunotherapy. Germline pathogenic variants in genes conferring high or moderate risk to cancer are detected in 6-10% of all CRCs and 20% of those diagnosed before age 50. Read More

Colorectal Dis 2018 Dec 22. Epub 2018 Dec 22.

Division of Colon and Rectal Surgery, Department of Surgery, Chang Gung Memorial Hospital, Linko, Taiwan.

Aim: Whether some diseases are related to the occurrence of synchronous colorectal carcinoma (sCRC) is unknown. Investigating the risk factors and presentation of sCRC could aid in the treatment of patients with colorectal cancer (CRC). The prognosis of sCRC compared with that of solitary CRC remains unclear. Read More

Front Pharmacol 2018 5;9:1421. Epub 2018 Dec 5.

Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.

Gastric cancer, a group of common malignancies, results in the most cancer mortality worldwide after only lung and colorectal cancer. Although familial gastric cancers have long been recognized, it was not until recently that they were discovered to be associated with mutations of specific genes. Mutations of , the gene encoding E-cadherin, are the most common germline mutations detected in gastric cancer and underlie hereditary diffuse gastric cancer (HDGC) syndrome. Read More