4.6 Article

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Related references

Note: Only part of the references are listed.
Article Oncology

Surgery for Intraductal Papillary Mucinous Neoplasms of the Pancreas: Preoperative Factors Tipping the Scale of Decision-Making

Giovanni Marchegiani et al.

Summary: This study aimed to develop a preoperative tool to predict surgical morbidity for intraductal papillary mucinous neoplasms (IPMNs) of the pancreas. The researchers found that age, overweight status, and diabetes can predict the risk of surgical complications, informing the decision on the extent of surgical intervention.

ANNALS OF SURGICAL ONCOLOGY (2022)

Article Pathology

The role of next-generation sequencing in detecting gene fusions with known and unknown partners: a single-center experience with methodologies' integration

Andrea Ambrosini-Spaltro et al.

Summary: This study evaluated the reliability of next-generation sequencing (NGS) in detecting gene fusions with known and unknown partners. The results showed that NGS is a reliable method for detecting gene fusions with known partners, but less accurate for identifying gene fusions with unknown partners.

HUMAN PATHOLOGY (2022)

Review Biochemistry & Molecular Biology

Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer

Akiyoshi Kasuga et al.

Summary: Hereditary pancreatic cancers are mainly caused by inherited genes, with familial pancreatic cancer accounting for a portion of cases. Known susceptibility genes include BRCA1 and BRCA2. Targeted medications have been developed for these mutations. Additionally, certain features are associated with homologous recombination deficiency and sensitivity to targeted therapies.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Oncology

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Shuai Li et al.

Summary: This study aims to provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.

JOURNAL OF CLINICAL ONCOLOGY (2022)

Article Genetics & Heredity

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation

Maria Teresa Vietri et al.

Summary: This study determined the mutational status of PDAC patients in HBOC families, LS families, FAP and FAMMM families, and LFS families, revealing a high mutation rate in HBOC and LS families, with a prevalence of BRCA2 mutations in HBOC, as well as a novel BRCA2 germline mutation.

GENES (2022)

Article Oncology

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dube Syndrome Family

Erika Bandini et al.

Summary: Birt-Hogg-Dube syndrome (BHDS) is a rare inherited disorder associated with an increased risk of renal cell carcinoma, lung cysts, and other conditions. This case study highlights the importance of next-generation sequencing (NGS) in identifying multiple genetic mutations in complex oncologic disorders.

FRONTIERS IN ONCOLOGY (2022)

Review Oncology

Cystic Neoplasms of the Pancreas: Differential Diagnosis and Radiology Correlation

Feixiang Hu et al.

Summary: Pancreatic cystic neoplasms (PCNs) are tumors with cystic components exhibiting different biological behaviors, with some being benign and others having varying degrees of malignant potential. Clinically, the challenge lies in accurately diagnosing PCNs before deciding on surgery to prevent unnecessary interventions and complications.

FRONTIERS IN ONCOLOGY (2022)

Review Oncology

Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers

Kole H. Buckley et al.

Summary: This article reviews the accumulating evidence that suggests an increased risk of gastric cancer among BRCA1/2 carriers, particularly among BRCA2 carriers. The authors also propose potential strategies for gastric cancer risk management in this population.

CANCERS (2022)

Review Biochemistry & Molecular Biology

Intraductal Papillary Mucinous Neoplasms in Hereditary Cancer Syndromes

Devarshi R. Ardeshna et al.

Summary: Hereditary pancreatic cancer accounts for about 10% of pancreatic cancer diagnoses. Early detection of pre-cancerous pancreatic cysts, such as intraductal papillary mucinous cystic neoplasms (IPMNs), has become an important focus to reduce pancreatic cancer incidence and mortality. This review explores the prevalence of IPMNs in patients with hereditary pancreatic cancer and their relatives, and discusses the need for surveillance changes in high-risk individuals.

BIOMEDICINES (2022)

Article Gastroenterology & Hepatology

Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population

Tatsuo Hata et al.

Summary: Cancer patients with personal/family histories of pancreatic/breast/ovarian/prostate cancer may have DDR-related germline mutations, which could be a favorable prognostic factor in pancreatic cancer patients.

ANNALS OF GASTROENTEROLOGICAL SURGERY (2021)

Review Oncology

Treatment opportunities and future perspectives for pancreatic cancer patients with germline BRCA1-2 pathogenic variants

Marina Macchini et al.

Summary: The review highlights the lack of personalized treatments and predictive biomarkers for pancreatic cancer (PDAC), and focuses on the potential of targeting germline mutations in BRCA1 and 2 genes and other genes involved in the DNA damage response pathway (DDR) for more specific and effective therapies. It discusses the challenges in determining the proper type and timing of targeted treatments, potential combination strategies, and the functional impact of specific pathogenic variants on the DDR pathway, especially for DDR defective PDAC patients.

CANCER TREATMENT REVIEWS (2021)

Article Oncology

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

Gisella Figlioli et al.

Summary: The Italian population shows high genetic heterogeneity due to migration and colonization, leading to recurrent BRCA1/2 pathogenic variants in specific regions like Bergamo province. The BRCA1/2 PV spectrum in Bergamo is private and conserved, with fewer but more frequently occurring variants compared to the rest of Italy. This suggests that Bergamo could be an ideal population for studying disease risk associated with local PVs in breast cancer and other disease-causing genes, indicating a potential genetic isolation worth further investigation.

CANCERS (2021)

Article Oncology

Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort

U. Peretti et al.

Summary: This study analyzed the epidemiology of gBRCApv in Italian pancreatic cancer patients, finding a higher than expected incidence rate of 8.1%, with the highest rate among patients <40 years old at 17.1%. Screening is recommended for all PDAC patients <74 years old, regardless of family history and stage.

ESMO OPEN (2021)

Review Oncology

Pancreatic intraductal papillary mucinous neoplasms: Current diagnosis and management

Beata Jablonska et al.

Summary: Intraductal papillary mucinous neoplasms (IPMNs) are a type of pancreatic tumor, accounting for a small percentage of pancreatic neoplasms. They are categorized into different types with varying management strategies based on tumor characteristics and patient factors. There are several guidelines available for diagnosing and managing IPMNs.

WORLD JOURNAL OF GASTROINTESTINAL ONCOLOGY (2021)

Review Gastroenterology & Hepatology

BRCA mutated pancreatic cancer: A change is coming

Michael N. Rosen et al.

Summary: Pancreatic cancer is a deadly disease, especially for patients with BRCA mutations. These mutation carriers have some effective treatment options, including platinum-based chemotherapy and poly (ADP-ribose) polymerase inhibitors.

WORLD JOURNAL OF GASTROENTEROLOGY (2021)

Article Oncology

Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer

Ilario Giovanni Rapposelli et al.

Summary: The study identified the presence of pathogenic mutations in other genes among pancreatic cancer patients through gene panel testing, highlighting the importance of comprehensive genetic testing for screening at-risk family members and assessing eligibility for treatment options.

BMC CANCER (2021)

Review Gastroenterology & Hepatology

Molecular Diagnosis of Cystic Neoplasms of the Pancreas: a Review

J. C. Chen et al.

JOURNAL OF GASTROINTESTINAL SURGERY (2020)

Article Genetics & Heredity

Five Italian Families with Two Mutations in BRCA Genes

Maria Teresa Vietri et al.

GENES (2020)

Article Oncology

Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma?

Alexandra M. Roch et al.

JOURNAL OF SURGICAL ONCOLOGY (2019)

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

Familial Pancreatic Cancer

Julia Benzel et al.

ONCOLOGY RESEARCH AND TREATMENT (2018)