Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the variant allele.

Identification of germline genomic copy number variation in familial pancreatic cancer.

Adenocarcinoma of the pancreas is a significant cause of cancer mortality, and up to 10 % of cases appear to be familial. Heritable genomic copy number variants (CNVs) can modulate gene expression and predispose to disease. Here, we identify candidate predisposition genes for familial pancreatic cancer (FPC) by analyzing germline losses or gains present in one or more high-risk patients and absent in a large control group.

Screening for pancreatic cancer in a high-risk cohort: an eight-year experience.

Background: Pancreatic adenocarcinoma is the fourth leading cause of cancer death.

Methods: A prospective cohort study was undertaken between 2003 and 2011 at a tertiary care centre in Toronto, Canada. Two hundred and sixty-two subjects were enrolled based on an elevated estimated lifetime risk for pancreatic cancer due to known genetic mutations and/or cancer family history.

Management of pancreatic adenocarcinoma in Ontario, Canada: a population-based study using novel case ascertainment.

Background: Pancreatic adenocarcinoma (PA) is largely incurable, although recent progress has been made in the safety of surgery for PA and in adjuvant and palliative chemotherapy. The purpose of this study was to describe the management of PA in Ontario, Canada.

Methods: The Pathology Information Management System (PIMS), which uses electronic pathology reporting (E-path), was used to rapidly identify and recruit patients based on a pathologic diagnosis of PA between 2003 and 2006.

Oncologic outcome in patients with ulcerative colitis associated with dyplasia or cancer who underwent stapled or handsewn ileal pouch-anal anastomosis.

Purpose: Ulcerative colitis is a risk factor for colorectal cancer. Restorative proctocolectomy with ileal pouch-anal anastomosis is a standard surgical management of patients with ulcerative colitis who have cancer or dysplasia, but the oncologic risk of stapled anastomosis vs mucosectomy with handsewn anastomosis is debated. We compare the risk of new cancer or recurrence in the pouch or rectal cuff in patients with ulcerative colitis undergoing stapled anastomosis vs mucosectomy with handsewn anastomosis.

Germline BRCA1 mutations predispose to pancreatic adenocarcinoma.

Although the association of germline BRCA2 mutations with pancreatic adenocarcinoma is well established, the role of BRCA1 mutations is less clear. We hypothesized that the loss of heterozygosity at the BRCA1 locus occurs in pancreatic cancers of germline BRCA1 mutation carriers, acting as a "second-hit" event contributing to pancreatic tumorigenesis. Seven germline BRCA1 mutation carriers with pancreatic adenocarcinoma and nine patients with sporadic pancreatic cancer were identified from clinic- and population-based registries.

Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome.

Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer). Along with the risk for CRC, both syndromes are associated with elevated risk for other tumors.

Impact of public vaccination programs on adult vaccination rates: two examples from Ontario, Canada.

This study examined adult vaccination rates in Metropolitan Toronto/Peel Region following the implementation of publicly funded adult pneumococcal and universal influenza vaccination programs in Ontario. Community-living adults eligible for pneumococcal vaccines were surveyed regarding vaccination rates, and factors potentially associated with vaccination. Influenza vaccine rates increased over time, but only respondents 65 years of age and older met Canadian targets.

Recurrent pyogenic cholangitis with hepatolithiasis--the role of surgical therapy in North America.

Purpose: To determine role of surgical intervention for Recurrent Pyogenic Cholangitis with hepatolithiasis at a North American hepatobiliary center.

Methods: Retrospective analysis of 42 patients presenting between 1986 and 2005.

Results: Mean age is 54.

Results of an aggressive approach to resection of locally recurrent rectal cancer.

Background: The value of resection for locally recurrent rectal cancer (LRRC) remains controversial. We analyzed outcomes of an aggressive approach to resection of LRRC.

Methods: We conducted a retrospective chart review of 52 consecutive patients who underwent resection of LRRC from September 1997 through August 2005.

Surgical resection of hepatic and pulmonary metastases from colorectal carcinoma.

Background: Patients with hepatic and pulmonary metastases from colorectal cancer (CRC) may benefit from aggressive surgical therapy. We examined the longterm outcomes of patients who underwent both lung and liver resections for colorectal metastases over a 10-year period.

Study Design: Four hundred twenty-three hepatectomies were performed for metastatic CRC between 1992 and 2002 at two university-affiliated hospitals.

Remission of hormone-refractory prostate cancer attributed to Essiac.

Essiac is a popular complementary and alternative medicine (CAM) that is utilized by many cancer patients in North America. Much anecdotal reporting exists about its cancer-fighting qualities, but so far no clinical trials have been preformed to validate those claims. We describe here the case of a 64-year-old man whose hormone-refractory prostate cancer responded well to Essiac tea.