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Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist

Hereditary neoplasia syndromes and the role of the surgeon

Pancreatic cancer and the FAMMM syndrome

Familial Cancer : Volume 6

Familial Cancer : Volume 5

Familial Cancer : Volume 4

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

Pancreatic cancer and the FAMMM syndrome

Content Provider	Springer Nature Link
Author	Lynch, Henry T. Fusaro, Ramon M. Lynch, Jane F. Brand, Randall
Copyright Year	2007
Abstract	Hereditary cancer syndromes provide excellent models for molecular genetic studies that may aid significantly in case detection, surveillance, and management. Ultimately, molecularly based designer pharmaceuticals may emerge from this research, such as the case of trastuzumab (Herceptin) in HER-2/neu positive breast cancer, and imatinib (Gleevec) in chronic myelocytic leukemia and gastrointestinal stromal tumors. Importantly, these molecular findings may fuel significant clues to cancer control. This background is mentioned since surveillance and management of pancreatic cancer, a major concern of this manuscript, has been uniformly unsuccessful as evidenced by the close correspondence between its incidence and its mortality. Yet knowledge about its genetic and molecular pathology will hopefully ameliorate this vexing problem. One molecular genetic clue is the recently identified palladin mutation in two pancreatic cancer prone families. However, caution must be used toward the palladin mutation, as several recent publications have questioned its significance as a pancreatic cancer causing mutation. We provide a concise description of pancreatic cancer in concert with malignant melanoma in the familial atypical multiple mole melanoma (FAMMM) syndrome as a potential preventive model. This knowledge should help clinicians and basic scientists seize on the opportunity to develop more sensitive and specific screening and management programs in this disease; while a relatively small subset of pancreatic cancer may be readily identifiable through its FAMMM phenotype, coupled with its CDKN2A mutation, this hereditary disorder, given a keen knowledge of its natural history and molecular genetics, may prove to be an effective clinical preventive model.
Starting Page	103
Ending Page	112
Page Count	10
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	7
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2007-11-09
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Pancreatic cancer Hereditary cancer Malignant melanoma Familial atypical multiple mole melanoma syndrome CDKN2A mutation Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity

CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome

Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma

Recurrent melanoma development in a Caucasian female with CDKN2A+ mutation and FAMMM syndrome: A case report

Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report

Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma.

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

Pancreatic cancer and the FAMMM syndrome

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Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity

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