scholarly journals American founder mutation for Lynch syndrome

Cancer ◽  
2006 ◽  
Vol 106 (2) ◽  
pp. 448-452 ◽  
Author(s):  
Henry T. Lynch ◽  
Albert de la Chapelle ◽  
Heather Hampel ◽  
Anja Wagner ◽  
Riccardo Fodde ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Founder Mutation ◽  
American Founder

The American founder mutation for Lynch syndrome: Prevalence and cancer control implications

2005 ◽  
Vol 23 (16_suppl) ◽  
pp. 9505-9505 ◽  
Author(s):  
H. T. Lynch ◽  
A. de la Chapelle ◽  
H. Hampel ◽  
A. Wagner ◽  
R. Fodde ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Founder Mutation ◽  
Cancer Control ◽  
American Founder

scholarly journals American Founder Mutation for Attenuated Familial Adenomatous Polyposis

2008 ◽  
Vol 6 (1) ◽  
pp. 46-52 ◽  
Author(s):  
Deborah W. Neklason ◽  
Jeffery Stevens ◽  
Kenneth M. Boucher ◽  
Richard A. Kerber ◽  
Nori Matsunami ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Founder Mutation ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
American Founder

Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation

2012 ◽  
Vol 11 (4) ◽  
pp. 579-585 ◽  
Author(s):  
Christina Therkildsen ◽  
Anna Isinger-Ekstrand ◽  
Steen Ladelund ◽  
Anja Nissen ◽  
Eva Rambech ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Founder Mutation ◽  
Cancer Risks

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

2011 ◽  
Vol 13 (10) ◽  
pp. 895-902 ◽  
Author(s):  
Manuela Pinheiro ◽  
Carla Pinto ◽  
Ana Peixoto ◽  
Isabel Veiga ◽  
Bárbara Mesquita ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Founder Mutation

scholarly journals An American founder mutation in MLH1

2011 ◽  
Vol 130 (9) ◽  
pp. 2088-2095 ◽  
Author(s):  
Jerneja Tomsic ◽  
Sandya Liyanarachchi ◽  
Heather Hampel ◽  
Monika Morak ◽  
Brittany C. Thomas ◽  
...  
Keyword(s):  
Founder Mutation ◽  
American Founder

Origins and Prevalence of the American Founder Mutation of MSH2

2008 ◽  
Vol 68 (7) ◽  
pp. 2145-2153 ◽  
Author(s):  
Mark Clendenning ◽  
Mark E. Baze ◽  
Shuying Sun ◽  
Kyle Walsh ◽  
Sandya Liyanarachchi ◽  
...  
Keyword(s):  
Founder Mutation ◽  
American Founder

Cancer penetrance of Lynch syndrome for MSH2 A636P mutation carriers

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 10528-10528
Author(s):  
V. Moreno ◽  
G. Rennert ◽  
S. B. Gruber
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Founder Mutation ◽  
Cumulative Risk ◽  
Likelihood Method ◽  
Mismatch Repair Genes ◽  
Ashkenazi Jewish ◽  
Marginal Maximum Likelihood ◽  
Repair Genes

10528 Background: Mutations in mismatch repair genes are responsible for Lynch syndrome. Estimating the penetrance of cancer related to MSH2 A636P, a founder mutation identified in Ashkenazi Jewish population, has clinical implications. Methods: The mutation was genotyped in all subjects of the MECC study, a population-based case-control study carried out in North Israel during 1998–2004 that included 2,112 cases of pathology-confirmed colorectal cancer (CRC) and 2,060 population controls. Approximately 50% of the subjects were of Ashkenazi Jewish origin. Family history of cancer (among first and second degree relatives) was obtained by personal interview. Penetrance of MSH2 A636P was estimated from relatives using a kin-cohort approach by the marginal maximum likelihood method, estimating cumulative risk among carriers and noncarriers. Results: Thirteen MSH2 A636P carriers were identified, all among CRC cases. Their relatives formed a cohort of 138 subjects contributing 8,802 person years (py); 14 of 138 had CRC (173 per 100,000) and 5 endometrial cancer (112 per 100,000). The cohort of relatives of noncarriers summed 46,257 subjects contributing 2.8M py; 582 had CRC (20 per 100,000) and 142 endometrial cancer (EC)(10 per 100,000). For carriers, the cumulative risk to age 70 of CRC was 0.44 (0.19–0.90) and that of EC was 0.29 (0–0.84). The cumulative risk of any cancer related with Lynch syndrome was 0.66 (0.47–0.93). These estimates of penetrance were not substantially modified if the cohorts were restricted to first degree relatives, to Ashkenazi Jews, or when relatives of controls were excluded. Compared to noncarriers, the hazard ratios were 28.7 (2.8–112) for CRC, 9.1 (0–181) for EC and 19 (6.4–50) for Lynch syndrome cancers. Conclusions: The MSH2 A636P missense mutation is highly penetrant, with a cumulative risk of cancers related to Lynch syndrome that is similar to other truncating mutations in mismatch repair genes. These results have implications for the tailored management of patients with this Ashkenazi founder mutation. No significant financial relationships to disclose.

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

2011 ◽  
Vol 10 (2) ◽  
pp. 285-295 ◽  
Author(s):  
Patrizia Lastella ◽  
Margherita Patruno ◽  
Giovanna Forte ◽  
Alba Montanaro ◽  
Carmela Di Gregorio ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Southern Italy ◽  
Founder Mutation ◽  
Germline Mutations ◽  
Common Founder
Sign in / Sign up

Export Citation Format

Share Document