Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology

(2021) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) – A Helicobacter-opposite point

(2021) Ilja Tacheci et al.   Best Practice & Research Clinical Gastroenterology

Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

(2021) Hyuna Sung et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer

(2021) Cristina Herrera-Pariente et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT

(2021) Michinori Funato et al.   CANCER SCIENCE

Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges

(2021) José Garcia‐Pelaez et al.   Molecular Oncology

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

(2021) Iris B. A. W. te Paske et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

(2021) Rita Barbosa-Matos et al.   Cancers

Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study

(2021) Anna Pocurull et al.   Cancers

Cancer predisposition and germline CTNNA1 variants

(2021) Silvana Lobo et al.   European Journal of Medical Genetics

Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

(2020) Dana Farengo Clark et al.   GENETICS IN MEDICINE

Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives

(2020) Joana Carvalho et al.   JOURNAL OF MEDICAL GENETICS

Lauren classification identifies distinct prognostic value and functional status of intratumoral CD8+ T cells in gastric cancer

(2020) Ruochen Li et al.   CANCER IMMUNOLOGY IMMUNOTHERAPY

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer

(2020) Arthavan Selvanathan et al.   Genes

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

(2020) Aleksandra Jezela‐Stanek et al.   Molecular Genetics & Genomic Medicine

Hereditary diffuse gastric cancer: updated clinical practice guidelines

(2020) Vanessa R Blair et al.   LANCET ONCOLOGY

Morphologic and molecular analysis of early‐onset gastric cancer

(2020) Namrata Setia et al.   CANCER

Recent advances in the pathology of heritable gastric cancer syndromes

(2020) Irene Gullo et al.   HISTOPATHOLOGY

Clinical spectrum and pleiotropic nature of CDH1 germline mutations

(2019) Joana Figueiredo et al.   JOURNAL OF MEDICAL GENETICS

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)

(2019) Winifred Lo et al.   JOURNAL OF MEDICAL GENETICS

Alterations in DNA damage repair genes in primary liver cancer

(2019) Jianzhen Lin et al.   CLINICAL CANCER RESEARCH

The Central European Family with gastric adenocarcinoma and proximal polyposis of the stomach

(2019) Lumir Kunovsky et al.   GASTROINTESTINAL ENDOSCOPY

Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

(2019) Rosa M Xicola et al.   JOURNAL OF MEDICAL GENETICS

ATM in DNA repair in cancer

(2019) Mei Hua Jin et al.   PHARMACOLOGY & THERAPEUTICS

Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

(2019) Maegan E. Roberts et al.   JAMA Oncology

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition

(2019) Gianluca Tedaldi et al.   Cancers

Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients

(2019) Tsuneo Ikenoue et al.   JOURNAL OF HUMAN GENETICS

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

Multiple functions of α-catenin beyond cell adhesion regulation

(2018) Masatoshi Takeichi   CURRENT OPINION IN CELL BIOLOGY

First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region

(2018) Yasuhiro Mitsui et al.   Gastric Cancer

Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease

(2018) Irene Gullo et al.   GASTROINTESTINAL ENDOSCOPY

Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria

(2018) Rachel S. van der Post et al.   GASTROINTESTINAL ENDOSCOPY

Role of germline aberrations affectingCTNNA1,MAP3K6andMYD88in gastric cancer susceptibility

(2018) Robbert D A Weren et al.   JOURNAL OF MEDICAL GENETICS

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

(2018) Giovanni Corso et al.   JOURNAL OF MEDICAL GENETICS

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

(2018) Janet R. Vos et al.   Familial Cancer

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

(2018) Patrick R. Benusiglio et al.   Gastric Cancer

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

(2018) Kristy Lee et al.   HUMAN MUTATION

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

(2018) Carolina Velázquez et al.   BREAST

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

(2017) Ingrid P Vogelaar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Germline Mutations in PALB2 , BRCA1 , and RAD51C , Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

(2017) Ruta Sahasrabudhe et al.   GASTROENTEROLOGY

BRCA1 gene: function and deficiency

(2017) Miho Takaoka et al.   International Journal of Clinical Oncology

Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer

(2017) Soraia Melo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Risk of stomach cancer in Aotearoa/New Zealand: A Māori population based case-control study

(2017) Lis Ellison-Loschmann et al.   PLoS One

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) – a rare recently described gastric polyposis syndrome – report of a case

(2017) Andrea Beer et al.   ZEITSCHRIFT FUR GASTROENTEROLOGIE

Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network

(2017) Thomas Slavin et al.   Cancer Genetics

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

(2017) Rachel Pearlman et al.   JAMA Oncology

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

(2016) Jun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family

(2016) Ciyu Yang et al.   BREAST CANCER RESEARCH AND TREATMENT

Síndromes de predisposición a cáncer gástrico y cáncer pancreático

(2016) María Liz Leoz et al.   Gastroenterologia y Hepatologia

The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature

(2016) Rudolf Repak et al.   GASTROINTESTINAL ENDOSCOPY

Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH

(2016) Aung Ko Win et al.   INTERNATIONAL JOURNAL OF CANCER

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

(2016) Nadine Tung et al.   JOURNAL OF CLINICAL ONCOLOGY

ATM Mutations in Cancer: Therapeutic Implications

(2016) M. Choi et al.   MOLECULAR CANCER THERAPEUTICS

Gastric cancer and family history

(2016) Yoon Jin Choi et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition

(2016) Mohammed S. Chaudhry et al.   OncoImmunology

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer

(2015) Iikki Donner et al.   Familial Cancer

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1

(2015) Rachel S. van der Post et al.   GASTROENTEROLOGY

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers

(2015) Rachel S van der Post et al.   JOURNAL OF MEDICAL GENETICS

Familial gastric cancer: genetic susceptibility, pathology, and implications for management

(2015) Carla Oliveira et al.   LANCET ONCOLOGY

Standardized phenotyping enhances Mendelian disease gene identification

(2015) Lisenka E L M Vissers et al.   NATURE GENETICS

Familial Gastric Cancers

(2015) N. Setia et al.   ONCOLOGIST

Patterns and functional implications of rare germline variants across 12 cancer types

(2015) Charles Lu et al.   Nature Communications

Hereditary Diffuse Gastric Cancer Syndrome

(2015) Samantha Hansford et al.   JAMA Oncology

Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel

(2014) Nadine Tung et al.   CANCER

APC promoter 1B deletion in seven American families with familial adenomatous polyposis

(2014) A.K. Snow et al.   CLINICAL GENETICS

Promoter-specific alterations ofAPCare a rare cause for mutation-negative familial adenomatous polyposis

(2014) Walter Pavicic et al.   GENES CHROMOSOMES & CANCER

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

(2014) Daniel Gaston et al.   PLoS Genetics

APC promoter 1B deletion in familial polyposis-implications for mutation-negative families

(2013) T.K. Kadiyska et al.   CLINICAL GENETICS

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

(2013) Hans F A Vasen et al.   GUT

Sporadic fundic gland polyps and proximal polyposis associated with gastric adenocarcinoma share a common antral G cell hyperplasia

(2013) Paolo Declich et al.   GUT

ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin

(2013) V. Navrkalova et al.   HAEMATOLOGICA

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Landscape of somatic mutations and clonal evolution in mantle cell lymphoma

(2013) S. Bea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

p53 Opens the Mitochondrial Permeability Transition Pore to Trigger Necrosis

(2012) Angelina V. Vaseva et al.   CELL

An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

(2012) Ian J Majewski et al.   JOURNAL OF PATHOLOGY

History, Pathogenesis, and Management of Familial Gastric Cancer: Original Study of John XXIII's Family

(2012) Giovanni Corso et al.   Biomed Research International

Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention

(2011) María Sereno et al.   Clinical & Translational Oncology

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome

(2011) D L Worthley et al.   GUT

Familial fundic gland polyposis with gastric cancer

(2011) Ritsuko Yanaru-Fujisawa et al.   GUT

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis

(2011) A Rohlin et al.   ONCOGENE

PALB2/FANCN: Recombining Cancer and Fanconi Anemia

(2010) M. Tischkowitz et al.   CANCER RESEARCH

Human Perforin Employs Different Avenues to Damage Membranes

(2010) Tilen Praper et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

(2010) A. Lagarde et al.   JOURNAL OF MEDICAL GENETICS

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

The structural basis for membrane binding and pore formation by lymphocyte perforin

(2010) Ruby H. P. Law et al.   NATURE

Adherens junctions: from molecules to morphogenesis

(2010) Tony J. C. Harris et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Adenomatous polyposis coli 1A is likely to be methylated as a passenger in human gastric carcinogenesis

(2009) Kosuke Hosoya et al.   CANCER LETTERS

E-Cadherin Deficiency Initiates Gastric Signet-Ring Cell Carcinoma in Mice and Man

(2009) B. Humar et al.   CANCER RESEARCH

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

(2009) Stefanie Vogt et al.   GASTROENTEROLOGY

Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression

(2009) Carla Oliveira et al.   GASTROENTEROLOGY

Risk and Epidemiological Time Trends of Gastric Cancer in Lynch Syndrome Carriers in The Netherlands

(2009) Lisette G. Capelle et al.   GASTROENTEROLOGY

Germline CDH1 deletions in hereditary diffuse gastric cancer families

(2009) C. Oliveira et al.   HUMAN MOLECULAR GENETICS

The impact of genetic counseling on knowledge and emotional responses in Spanish population with family history of breast cancer

(2009) Esther Cabrera et al.   PATIENT EDUCATION AND COUNSELING

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer

(2008) M Barber et al.   JOURNAL OF PATHOLOGY

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

(2008) R Karam et al.   ONCOGENE