Founder mutations in specific populations are common in several Mendelian disorders. They are shared by apparently unrelated families that inherited them from a common ancestor that existed hundreds to thousands of years ago. They have been proven to impact in molecular diagnostics strategies in specific populations, where they can be assessed as the first screening step and, if positive, avoid...

BACKGROUND AND OBJECTIVE: The long-QT syndrome (LQTS) is associated with premature sudden cardiac deaths affecting whole families and is caused by mutations in genes encoding for cardiac proteins. When the same mutation is found in different families (recurrent mutations), this may imply either a common ancestor (founder) or multiple de novo mutations. We aimed to review recurrent mutations in ...

Like other cancer types, breast cancer is considered to be a genetic disease. While the majority of genetic changes are somatic, a minority are in germline. About 10-20% of breast cancer is thought to be due to a germline mutation in high-penetrance genes, where the major focus has been on BRCA1 and BRCA2. Some of these mutations are defined as founder mutations. Studies on founder mutations yi...

Vol. XL (February 2003), 1–9 1 *Paul E. Green is Emeritus Professor of Marketing, Wharton School of Business, University of Pennsylvania (e-mail: [email protected]. edu). Richard M. Johnson is Founder and Chairman, Sawtooth Software (email: [email protected]). William D. Neal is Founder and Senior Executive Officer, SDR Consulting (e-mail: [email protected]). PAUL E. GREEN, RICHARD M. JOHNSON,...

Inherited predisposition to cancer is a major contributor to the breast and ovarian cancer burden among people of Ashkenazi ancestry. Approximately 2.5% of all people of Ashkenazi Jewish descent carry one of three ancient (founder) mutations in BRCA1 or BRCA2 (185delAG or 5382insC in BRCA1 and 6174delT in BRCA2). In a recent population based study, 29% of Jewish women with ovarian cancer were s...

Born 1963; diploma in architecture and in civil engineering; Ph.D. in structural engineering RWTH Aachen; founder of Bureau d’études Weinand, Liège; professor at EPFL and director of the IBOIS/EPFL Lausanne; co-founder of SHEL Architecture Engineering and Production Design, Geneva. Olivier BAVEREL Associate Prof. Dr. Navier Research center, ENPC, Champs-sur-Marne ENSAG, France [email protected]

Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients ...

I. Martin Levy, M.D., Eric D. Fornari, M.D., and Jacob F. Schulz, M.D., Department of Orthopaedic Surgery, Montefiore Medical Center, Bronx, New York. Karen W. Pryor, B.A., Founder and CEO (retired), Karen Pryor Clicker Training, Watertown, Massachusetts. Theresa R. McKeon, B.A., Founder TAGteach International, Indian Trail, North Carolina. Lorraine J. Kuhn, Ph.D., Village of Ardsley, Stormwate...