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Pancreas Cancer

Familial pancreatic cancer was posted 08/13/2017 01:19 pm by Dr. Hruban
E-mail Address: rhruban@jhmi.edu

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In a recent paper in the Journal of Clinical Oncology (reference below), Dr. Michael Goggins (the Sol Goldman Professor of Pancreatic Cancer Research at Hopkins) and colleagues report that a fraction (~5%) of patients with pancreatic cancer who don't have a family history of cancer, have an inherited gene mutation that predisposed them to develop pancreatic cancer. Goggins and colleagues sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic cancer.
They report that 33 (3.9%) of the 854 patients had inherited a cancer-causing gene mutation. These included mutations in the known familial pancreatic cancer susceptibility genes: BRCA2, ATM, BRCA1, PALB2, MLH1, CDKN2A, TP53, BUB1B and BUB3.
Recognizing these inherited mutations is important for two reasons. First, other family members may also carry one of these mutations and they may benefit from genetic counseling and cancer screening. Second, some of these inherited mutations make the cancers particularly sensitive to certain treatments. Cancers with inactivated BRCA1, BRCA2 or PALB2 may be more sensitive to PARP inhibitors, and cancers with inactivated MLH1 may be more sensitive to immunotherpay.
Congratulations Dr. Goggins and team!

J Clin Oncol. 2017 Aug 2:JCO2017723502. doi: 10.1200/JCO.2017.72.3502. [Epub ahead of print] Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K1, Yu J1, Suenaga M1, Fesharakizadeh S1, Cho C1, Macgregor-Das A1, Siddiqui A1, Witmer PD1, Tamura K1, Song TJ1, Navarro Almario JA1, Brant A1, Borges M1, Ford M1, Barkley T1, He J1, Weiss MJ1, Wolfgang CL1, Roberts NJ1, Hruban RH1, Klein AP1, Goggins M1.

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