International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Breast Cancer Research and Treatment
Ana PeixotoManuel R Teixeira

Abstract

The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the BRCA2 full length RNA and the transcript lacking exon 3 in c.156_157insAlu BRCA2 mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other BRCA2 and BRCA1 pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with...Continue Reading

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Citations

Jul 20, 2011·Breast Cancer Research and Treatment·Mads ThomassenAna Vega
Sep 17, 2014·Hereditary Cancer in Clinical Practice·Taila HartleyWilliam D Foulkes
Jun 16, 2016·Genetics and Molecular Biology·Ingrid Petroni EwaldPatricia Ashton-Prolla
Apr 26, 2014·Genetics and Molecular Biology·Patricia Ashton-Prolla, Fernando Regla Vargas
Jan 28, 2017·Hereditary Cancer in Clinical Practice·Marcia Cruz-CorreaUNKNOWN Puerto Rico Clinical Cancer Genetics Consortia
Mar 11, 2020·JCO Global Oncology·Maria Isabel AchatzPatricia Ashton-Prolla
Sep 29, 2018·Global Health, Epidemiology and Genomics·A AbbadF Radouani
Feb 20, 2020·Reproductive Biology and Endocrinology : RB&E·Xiaofu ZhangJing Qu
May 18, 2017·European Journal of Human Genetics : EJHG·Louise CrivelliMichel Longy
May 4, 2021·Frontiers in Genetics·Tímea PóczaAnikó Bozsik

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