4.3 Review

Hereditary pancreatic cancer

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Article Surgery

Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer

Erina Takai et al.

Summary: The study aimed to identify novel genes that increase the risk of familial pancreatic cancer (FPC) in the Japanese population. The findings revealed potentially harmful germline variants in tumor suppressor genes in FPC patients, and somatic loss of heterozygosity of certain FPC susceptibility genes may contribute to FPC development. Genetic testing for a wider range of FPC predisposition genes could improve screening methods for high-risk groups of pancreatic cancer.

ANNALS OF SURGERY (2022)

Article Surgery

European guidelines from theEHTGandESCPfor Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

T. T. Seppala et al.

Summary: Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed clinical guidance focusing on surgical and gastroenterological aspects of the cancer spectrum.

BRITISH JOURNAL OF SURGERY (2021)

Article Genetics & Heredity

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Marc Tischkowitz et al.

Summary: PALB2 germline pathogenic variants are associated with increased breast cancer risk and slightly smaller increased risk of pancreatic and possibly ovarian cancer. Management guidance for PALB2 heterozygotes is similar to that for BRCA1/2, with personalized risk estimates being crucial for decision-making. Further research is needed to address unanswered questions such as contralateral breast cancer risk and survival outcomes after cancer diagnosis.

GENETICS IN MEDICINE (2021)

Article Oncology

Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

Kodai Abe et al.

Summary: Family history is a risk factor for pancreatic cancer and genetic analysis is necessary for managing familial pancreatic cancer. The case presented in this study involves a female patient with pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer cases, and surveillance strategies for pancreas, breast, and ovary were designed based on the genetic findings. Further research is needed to develop strategies for managing familial pancreatic cancers.

HEREDITARY CANCER IN CLINICAL PRACTICE (2021)

Article Multidisciplinary Sciences

Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

Yingsong Lin et al.

NATURE COMMUNICATIONS (2020)

Article Gastroenterology & Hepatology

Early Detection of Pancreatic Cancer: Opportunities and Challenges

Aatur D. Singhi et al.

GASTROENTEROLOGY (2019)

Review Gastroenterology & Hepatology

Familial Pancreatic Cancer and Surveillance of High-Risk Individuals

Hiroyuki Matsubayashi et al.

GUT AND LIVER (2019)

Review Biochemistry & Molecular Biology

Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer

Akihiro Ohmoto et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Medicine, General & Internal

Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer

Talia Golan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Review Oncology

Recent advances in Lynch syndrome

Leah H. Biller et al.

FAMILIAL CANCER (2019)

Article Gastroenterology & Hepatology

Nationwide survey of hereditary pancreatitis in Japan

Atsushi Masamune et al.

JOURNAL OF GASTROENTEROLOGY (2018)

Review Surgery

Malignant tumors associated with juvenile polyposis syndrome in Japan

Hideyuki Ishida et al.

SURGERY TODAY (2018)

Article Radiology, Nuclear Medicine & Medical Imaging

Pancreatic cancer screening

Chris M. Lindquist et al.

ABDOMINAL RADIOLOGY (2018)

Article Public, Environmental & Occupational Health

Risk of pancreatic cancer associated with family history of cancer and other medical conditions by accounting for smoking among relatives

E. Molina-Montes et al.

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2018)

Article Medicine, General & Internal

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

Chunling Hu et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2018)

Review Oncology

Emerging strategies in BRCA-positive pancreatic cancer

Adam Kowalewski et al.

JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY (2018)

Article Multidisciplinary Sciences

Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer

Koji Tamura et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Article Multidisciplinary Sciences

Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer

Alison P. Klein et al.

NATURE COMMUNICATIONS (2018)

Review Gastroenterology & Hepatology

Pancreatic cancer: A review of clinical diagnosis, epidemiology, treatment and outcomes

Andrew McGuigan et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2018)

Review Gastroenterology & Hepatology

Familial pancreatic cancer: Concept, management and issues

Hiroyuki Matsubayashi et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2017)

Review Oncology

Pancreatic Cancer in Lynch Syndrome Patients

Luis Bujanda et al.

JOURNAL OF CANCER (2017)

Article Surgery

Relationship between tumour size and outcome in pancreatic ductal adenocarcinoma

D. Ansari et al.

BRITISH JOURNAL OF SURGERY (2017)

Article Genetics & Heredity

The c.657de15 variant in the NBN gene predisposes to pancreatic cancer

Marianna Borecka et al.

Article Oncology

Family history as a marker of platinum sensitivity in pancreatic adenocarcinoma

David Fogelman et al.

CANCER CHEMOTHERAPY AND PHARMACOLOGY (2015)

Article Oncology

PanGen-Fam: Spanish registry of hereditary pancreatic cancer

E. Mocci et al.

EUROPEAN JOURNAL OF CANCER (2015)

Article Oncology

Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation

Bella Kaufman et al.

JOURNAL OF CLINICAL ONCOLOGY (2015)

Letter Gastroenterology & Hepatology

Familial Adenomatous Polyposis and Pancreatic Cancer

Driffa Moussata et al.

PANCREAS (2015)

Review Cell Biology

Familial pancreatic cancer: genetic advances

Anil K. Rustgi

GENES & DEVELOPMENT (2014)

Review Genetics & Heredity

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

Karen E. Wain et al.

GENETICS IN MEDICINE (2014)

Article Genetics & Heredity

Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance

Susanne E. Korsse et al.

JOURNAL OF MEDICAL GENETICS (2013)

Article Gastroenterology & Hepatology

Japan Pancreatic Cancer Registry; 30th Year Anniversary Japan Pancreas Society

Shinichi Egawa et al.

PANCREAS (2012)

Article Oncology

ATM Mutations in Patients with Hereditary Pancreatic Cancer

Nicholas J. Roberts et al.

CANCER DISCOVERY (2012)

Review Gastroenterology & Hepatology

Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals

Hiroyuki Matsubayashi

JOURNAL OF GASTROENTEROLOGY (2011)

Article Genetics & Heredity

Familial carcinoma of the pancreas*

J. M. Friedman et al.

CLINICAL GENETICS (2010)

Article Medicine, General & Internal

A Combined Healthy Lifestyle Score and Risk of Pancreatic Cancer in a Large Cohort Study

Li Jiao et al.

ARCHIVES OF INTERNAL MEDICINE (2009)

Article Genetics & Heredity

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Nazneen Rahman et al.

NATURE GENETICS (2007)

Article Medicine, General & Internal

Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism

Kay L. Pogue-Geile et al.

PLOS MEDICINE (2006)

Article Gastroenterology & Hepatology

Anticipation in familial pancreatic cancer

CD McFaul et al.

Article Oncology

Cancer risks and mortality in heterozygous ATM mutation carriers

D Thompson et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2005)

Article Gastroenterology & Hepatology

Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer

RH Hruban et al.

DIGESTIVE DISEASES (2001)