Familial Mutations in PMS2 Can Cause Autosomal Dominant Hereditary Nonpolyposis Colorectal Cancer

2005 ◽  
Vol 128 (5) ◽  
pp. 1431-1436 ◽  
Author(s):  
Daniel L. Worthley ◽  
Michael D. Walsh ◽  
Melissa Barker ◽  
Andrew Ruszkiewicz ◽  
Graeme Bennett ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Hereditary Nonpolyposis

scholarly journals Muir-Torre Syndrome: The Importance of a Detailed Family History

2019 ◽  
Vol 10 (2) ◽  
pp. 180-185
Author(s):  
Christopher K.H. Burris ◽  
Maria E. Rodriguez ◽  
Meisha L. Raven ◽  
Devasis N. Reddy ◽  
Yaohui G. Xu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Skin Neoplasms ◽  
Skin Lesions ◽  
Hereditary Nonpolyposis ◽  
Detailed Family History ◽  
Dominant Disease ◽  
Typical Skin

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

scholarly journals Differential diagnosis of small bowel occlusions

2009 ◽  
Vol 3 (2) ◽  
pp. 81-87
Author(s):  
Paolo Ghiringhelli
Keyword(s):  
Colorectal Cancer ◽  
Differential Diagnosis ◽  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Early Age ◽  
Increased Risk ◽  
Hereditary Nonpolyposis

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI). Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease.

The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer

2014 ◽  
Vol 133 (3) ◽  
pp. 526-530 ◽  
Author(s):  
Zohreh Ketabi ◽  
Anne-Marie Gerdes ◽  
Berit Mosgaard ◽  
Steen Ladelund ◽  
Inge Bernstein
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum

2009 ◽  
Vol 8 (3) ◽  
pp. 209-213 ◽  
Author(s):  
Mef Nilbert ◽  
Christina Therkildsen ◽  
Anja Nissen ◽  
Måns Åkerman ◽  
Inge Bernstein
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population

1998 ◽  
Vol 41 (4) ◽  
pp. 428-433 ◽  
Author(s):  
Kevin M. Lin ◽  
M. Shashidharan ◽  
Charles A. Ternent ◽  
Alan G. Thorson ◽  
Garnet J. Blatchford ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
General Population ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Extracolonic Cancer ◽  
Hereditary Nonpolyposis
Sign in / Sign up

Export Citation Format

Share Document