Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma

S Holter, A Borgida, A Dodd, R Grant… - Journal of Clinical …, 2015 - ascopubs.org
Purpose The main purpose of this study was to determine the prevalence of pathogenic
BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients …

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer

RC Grant, I Selander, AA Connor, S Selvarajah… - Gastroenterology, 2015 - Elsevier
Background & Aims We investigated the prevalence of germline mutations in APC, ATM,
BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, and TP53 …

Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma

RC Grant, R Denroche, GH Jang, KM Nowak, A Zhang… - Gut, 2021 - gut.bmj.com
Objective To describe the clinical, pathological and genomic characteristics of pancreatic
cancer with DNA mismatch repair deficiency (MMRD) and proficiency (MMRP). Design We …

Morphological classification of pancreatic ductal adenocarcinoma that predicts molecular subtypes and correlates with clinical outcome

SN Kalimuthu, GW Wilson, RC Grant, M Seto… - Gut, 2020 - gut.bmj.com
Introduction Transcriptional analyses have identified several distinct molecular subtypes in
pancreatic ductal adenocarcinoma (PDAC) that have prognostic and potential therapeutic …

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

AL Smith, N Alirezaie, A Connor, M Chan-Seng-Yue… - Cancer letters, 2016 - Elsevier
The genetic basis underlying the majority of hereditary pancreatic adenocarcinoma (PC) is
unknown. Since DNA repair genes are widely implicated in gastrointestinal malignancies …

Exome-wide association study of pancreatic cancer risk

RC Grant, RE Denroche, A Borgida, C Virtanen… - Gastroenterology, 2018 - Elsevier
We conducted a case-control exome-wide association study to discover germline variants in
coding regions that affect risk for pancreatic cancer, combining data from 5 studies. We …

Pancreatic cancer

RS Mateos, KC Conlon - Surgery (Oxford), 2016 - Elsevier
It is anticipated that by 2030 pancreatic cancer will be the second leading cause of death
from cancer. Surgery remains the only potentially curative therapy. However, less than a …

Reflex Testing for Germline BRCA1, BRCA2, PALB2, and ATM Mutations in Pancreatic Cancer: Mutation Prevalence and Clinical Outcomes From Two Canadian …

AL Smith, C Wong, A Cuggia, A Borgida… - JCO precision …, 2018 - ascopubs.org
Purpose We investigated the translational value of reflex testing for germline mutations in
four homology-directed DNA repair predisposition genes (BRCA1, BRCA2, PALB2, and …

Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer

Y Feng, H Liu, B Duan, Z Liu, J Abbruzzese… - …, 2019 - academic.oup.com
The AURORA pathway participates in mitosis and cell division, and alterations in mitosis
and cell division can lead to carcinogenesis. Therefore, genetic variants in the AURORA …

Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer?

Y Wang, A Cuggia, YI Chen, J Parent, A Stanek… - Journal of the National …, 2022 - jnccn.org
Background: Individuals with a family history of pancreatic adenocarcinoma (PC) or with a
germline mutation in a PC susceptibility gene are at increased risk of developing PC. These …