Abstract
Analysis of the chromosomal background upon which a mutation occurs can be used to reconstruct the origins of specific disease-causing mutations. The relatively common BRCA1 mutation, 1135insA, has been previously identified as a Norwegian founder mutation. We performed haplotype analysis of individuals from breast and ovarian cancer families from four different ethnic backgrounds who had been identified as carriers of the BRCA1: 1135insA mutation. Four microsatellite markers (D17S855, D17S1322, D17S1323 and D17S1325) located within or near the BRCA1 gene were genotyped in mutation carriers from 6 families of French Canadian, Italian and Dutch descent. Haplotypes were inferred from the genotype data and compared between these families and with the previously reported Norwegian founder haplotype. The 1135insA mutation was found to occur on three distinct haplotype backgrounds. The families from Norway shared a distinct haplotype while the families of French Canadian, Italian, and Dutch descent were found to occur on one of two additional, distinct backgrounds. Our results indicate that while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the ot...Continue Reading
References
Nov 1, 1996·Nature Medicine·P ToninJ E Garber
Oct 1, 1996·Journal of Medical Genetics·F DurocherJ Simard
Nov 14, 1997·Nature Genetics·A Petrij-BoschP Devilee
Oct 30, 1998·American Journal of Human Genetics·P N ToninS A Narod
Apr 17, 1999·American Journal of Human Genetics·X Liu, D F Barker
Oct 3, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·A DørumP Møller
Feb 22, 2000·British Journal of Cancer·M PisanoF Tanda
Jun 14, 2000·Clinical Genetics·K A PhillipsP J Goodwin
May 4, 2001·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·P MøllerUNKNOWN Norwegian Inherited Ovarian Cancer Group
Aug 22, 2001·Human Heredity·A P ManningP N Tonin
Nov 27, 2001·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·P MøllerUNKNOWN Norwegian Inherited Ovarian Cancer Group
Oct 3, 2003·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·K HeimdalP Møller
May 18, 2004·International Journal of Cancer. Journal International Du Cancer·Michelle D ReevesElizabeth J van Rensburg
May 18, 2004·International Journal of Cancer. Journal International Du Cancer·Bohdan GórskiJan Lubiński
Nov 29, 2013·Journal of Medical Genetics·Richard M BrohetUNKNOWN HEBON Resource
Citations
May 24, 2011·Molecular Biology Reports·Wijden MahfoudhLotfi Chouchane
Jan 25, 2008·Annals of Human Genetics·F MarroniG Bevilacqua
Aug 16, 2008·Cancer Research·Maurizia Dalla PalmaKatherine L Nathanson
Jan 6, 2011·Clinical Genetics·N C van der MerweW D Foulkes
Jan 22, 2008·Human Molecular Genetics·Xiaowei ChenAndrew K Godwin
Sep 1, 2010·The EPMA Journal·Ramūnas Janavičius
Jan 30, 2008·Breast Cancer Research and Treatment·Antonio RussoViviana Bazan
Aug 4, 2020·International Journal of Cancer. Journal International Du Cancer·Tarryn ShawJoanne Ngeow
Jan 27, 2019·Cancers·Pål MøllerEivind Hovig
Jun 25, 2017·Cancer Research·Barbara RiveraWilliam D Foulkes
Jul 25, 2021·Cancers·Caitlin T FierhellerPatricia N Tonin