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1.
Hum Genet ; 131(9): 1481-94, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22665139

ABSTRACT

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. A total of 120 FPC cases and 1,194 controls were genotyped on the Affymetrix 500K array, and 36 cases and 2,357 controls were genotyped on the Affymetrix 6.0 array. Detection of CNVs was performed by multiple computational algorithms and partially validated by quantitative PCR. We found no significant difference in the germline CNV profiles of cases and controls. A total of 93 non-redundant FPC-specific CNVs (53 losses and 40 gains) were identified in 50 cases, each CNV present in a single individual. FPC-specific CNVs overlapped the coding region of 88 RefSeq genes. Several of these genes have been reported to be differentially expressed and/or affected by copy number alterations in pancreatic adenocarcinoma. Further investigation in high-risk subjects may elucidate the role of one or more of these genes in genetic predisposition to pancreatic cancer.


Subject(s)
Adenocarcinoma/genetics , Gene Dosage , Germ Cells , Pancreatic Neoplasms/genetics , Case-Control Studies , Humans , Polymerase Chain Reaction
2.
J Womens Health (Larchmt) ; 19(9): 1683-703, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20731613

ABSTRACT

PURPOSE: This study aims to catalogue and examine the following work-life flexibility policies at all 17 Canadian medical schools: maternity leave, paternity leave, adoption leave, extension of the probationary period for family responsibilities, part-time faculty appointments, job sharing, and child care. METHODS: The seven work-life policies of Canadian medical schools were researched using a consistent and systematic method. This method involved an initial web search for policy information, followed by e-mail and telephone contact. The flexibility of the policies was scored 0 (least flexible) to 3 (most flexible). RESULTS: The majority of policies were easily accessible online. Work-life policies were scored out of 3, and average policy scores ranged from 0.47 for job sharing to 2.47 for part-time/work reduction. Across schools, total scores ranged from 7 to 16 out of 21. Variation in scores was noted for parenting leave and child care, whereas minimal variation was noted for other policies. CONCLUSIONS: Canadian medical schools are committed to helping medical faculty achieve work-life balance, but improvements can be made in the policies offered at all schools. Improving the quality of work flexibility policies will enhance working conditions and job satisfaction for faculty. This could potentially reduce Canada's loss of talented young academicians.


Subject(s)
Faculty, Medical , Family Leave/statistics & numerical data , Organizational Policy , Schools, Medical/organization & administration , Canada , Child , Child Care/statistics & numerical data , Humans , Personnel Staffing and Scheduling
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