Characteristics of Pure Familial Pancreatic Cancer
Families and Those with Additional Breast Cancer
Volume 4 - Issue 1
Detlef K Bartsch1*, Elvira Matthäi1, Ioannis Mintziras1, Lutz Benedikt Böhm1, Norman Gercke1, Christian Bauer2,
Jens Figiel3 and Emily P Slater1
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- 1Department of Visceral, Thoracic and Vascular Surgery
- 2Gastroenterology and Endocrinology
- 3Radiology, Philipps University Marburg, Germany
*Corresponding author:
Detlef K Bartsch, Philipps University of Marburg, Department of Visceral, Thoracic and Vascular Surgery,
Germany
Received: August 17, 2020; Published: September 10, 2020
DOI: 10.32474/OAJOM.2020.04.000178
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Abstract
Familial pancreatic cancer (FPC) is a rare hereditary tumor syndrome. The large phenotypic and genotypic heterogeneity is not
yet well-established. FPC families without (pure FPC) or with additional occurrence of breast cancer (FPC-breast) were analyzed
regarding phenotype, genotype and the diagnostic yield of prospective screening for pancreatic ductal adenocarcinoma (PDAC). The
total cohort of 227 FPC families included 85 (38%) pure FPC and 70 (30.7%) FPC-breast families. The proportions of affected family
members with PDAC (27.2%, 197/724 vs. 18.3%, 177/962, p<0.0001) and of 2 or more affected generations (84.2% vs. 62.9%,
p<0.05) were significantly higher in pure FPC families. In 48 (68.6%) FPC-breast families additional tumor types occurred, most
frequently colorectal cancer (n=16, 22.8%). Deleterious germline mutations (2 BRCA2, 1 PALB2) were detected in 3 of 53 (5.6%)
analyzed pure FPC and in 17 of 56 (30.4%) analyzed FPC-breast families (3 BRCA1, 6 BRCA2, 3 PALB2, 3 CDKN2A, 2 ATM; p=0.001).
Individuals at risk (IAR) from FPC-breast families participated significantly more often in a prospective PDAC screening program
(54.4% vs. 33.5%; p=0.0001) resulting in a diagnostic yield of 3.7% and 0% in FPC-breast and pure FPC families, respectively. The
phenotypic and genotypic characteristics of pure FPC and FPC-breast families should be considered for the genetic counseling and
management of these families.
Keywords: Familial Pancreatic Cancer; Mutations; Phenotype; Genotype
Abbreviations: FPC: Familial Pancreatic Cancer; PDAC: Pancreatic Ductal Adenocarcinoma; HBOC: Hereditary Breast and Ovarian
Cancer; PanIN: Pancreatic Intraepithelial Neoplasia; IPMN: Intraductal Papillary Mucinous Neoplasia; AFL: Atypical Flat Lesions;
IAR: Individual at Risk
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