| 1) Familial pancreatic cancer |
It has
now become clear that pancreas cancer by itself (not part of a known
syndrome) runs in some families. For example, relatives of patients
with pancreas cancer have an increased risk for developing pancreas
cancer themselves, and the National Familial Pancreas Cancer Registry
(NFPTR) now contains over 250 families in which two or more family
members have had pancreas cancer.
Scientists at Johns Hopkins are working diligently to discover the reasons why pancreas cancer runs in these families. Anyone wishing to join this registry or wishing
to learn more about familial pancreas cancer may contact
Alison Klein at aklein1@jhmi.edu.
|
2) Familial breast cancer gene
(BRCA2) |
This is
the second familial breast cancer gene identified. It was discovered because of a remarkable
advance made by the Hopkins team
studying pancreas cancer.
More recently, Dr. Goggins at Hopkins has shown that as many as 10%
of pancreas cancers are caused by inherited defects in the BRCA2
gene (link to the what's new on this). One particular defect in BRCA2
(a mutation called 6174 del T) is found in about 1% of individuals of Ashkenazi Jewish descent which may explain the higher rate of pancreas cancer observed in
Jews as compared to Catholics and Protestants.
Testing is now available for BRCA2 mutations. |
| 3) Peutz-Jeghers syndrome |
This is
a very rare hereditary syndrome in which affected family members
develop polyps in their small intestines and pigmented spots on their
lips. These polyps are masses of tissue that protrude from the normal
surface of the intestine. Patients with Peutz-Jeghers syndrome have
an increased risk of developing pancreas cancer. There are recent
developments at Johns Hopkins in this area of research. |
| 4) Familial melanoma |
The Familial
Atypical Multiple Mole Melanoma (FAMMM) syndrome is a rare hereditary
syndrome in which affected family members develop skin moles and
melanomas (an aggressive form of skin cancer). These patients also
have an increased risk of developing pancreas cancer. |
| 5) Hereditary colon cancer |
The Hereditary
Non-polyposis Colorectal Cancer (HNPCC) syndrome strikes as many
as 1 in 200 individuals and it is characterized by the inherited
predisposition to develop colon cancer, endometrial (uterine) cancer,
stomach cancer and ovarian cancer. Patients with HNPCC may also have
an increased risk of developing pancreas cancer. Indeed, the DNA
finding typical of HNPCC, called microsatellite instability has recently
been reported in a small (about 4%) fraction of pancreas cancers.
Gene
testing for HNPCC is now available. |
| 6) Hereditary pancreatitis |
This rare
disease is characterized by the development of recurrent episodes
of severe chronic pancreatitis (inflammation of the pancreas) starting
at an early age. The gene (segment of DNA) responsible for hereditary
pancreatitis, called the trypsinogen gene, was discovered
by Dr.
Whitcomb of the University of Pittsburgh. |