Patricia N. Tonin, Anne-Marie Mes-Masson, P

Slides:

Advertisements

Similar presentations

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Advertisements

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,

Genetic testing for high-risk colon cancer patients1 William M. Grady Gastroenterology Volume 124, Issue 6, Pages (May 2003) DOI: /S (03)

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Date of download: 7/7/2016 From: Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario Ricardo.

The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases Hui C. Tsou,

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44

Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing Anne Girardet, Mary Sara McPeek, Esther P. Leeflang,

Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B

Mutation Screening in Juvenile Polyposis Syndrome

The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk

Human Diallelic Insertion/Deletion Polymorphisms

High Rate of Mosaicism in Tuberous Sclerosis Complex

CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

Alireza Mosavi-Jarrahi, MS, PhD, Erich V. Kliewer, MS, PhD

Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci

Genetics: It's Coming to a Clinic Near You

Amy Finch, Ph. D. , Adriana Valentini, M. D. , Ellen Greenblatt, M. D

Genetics, Individuality, and Medicine in the 21st Century*

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Three generations of patients with lupus erythematosus and hereditary angioedema Theresa R Pacheco, MD, William L Weston, MD, Patricia C Giclas, PhD,

David H. Spencer, Kerry L. Bubb, Maynard V. Olson

The American Journal of Human Genetics

Hilmi Ozcelik, Xuejiang Shi, Martin C

Assisted reproductive technology in the United States: 1999 results generated from the American Society for reproductive medicine/society for assisted.

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.

Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis Eric D. Lynch, Elizabeth A. Ostermeyer, Ming.

Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families Hannele Laivuori, Päivi Lahermo, Vesa Ollikainen, Elisabeth Widen,

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait Pia Höglund, Mari Auranen,

Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors Ana.

Historical perspectives of The American Association for Thoracic Surgery: Richard Hardaway Meade, Jr ( ) Abe DeAnda, MD, Leora B. Balsam, MD

Anne Dørum, Ketil Heimdal, Eivind Hovig, Mats Inganäs, Pål Møller

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families Laurent Cavalier, Karim.

Erratum The American Journal of Human Genetics

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 Sharan Goobie,

Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations Lora Boteva, David L.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome.

Erratum American Journal of Kidney Diseases

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

Steven A Narod The Lancet Volume 349, Issue 9068, (June 1997)

Benjamin A. Rybicki, José L. Walewski, Mary J

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

Alexander Liede, Imtiaz A

Breast Cancer Follow-Up: Strategies for Successful Collaboration between Cancer Care Specialists and Primary Care Providers Mary Ann Zalewski, Susan.

Rational Inferences about Departures from Hardy-Weinberg Equilibrium

Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer Graham R. Bignell,

Erratum American Journal of Kidney Diseases

2010 Presidential Address: Culture: The Silent Language Geneticists Must Learn— Genetic Research with Indigenous Populations Roderick R. McInnes The.

Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients Flora H. Fodor, Ainsley Weston,

BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits

Detection and Integration of Genotyping Errors in Statistical Genetics

Alice S. Whittemore, Jerry Halpern

A “Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians Anne-Marie Laberge, Michèle Jomphe, Louis Houde,

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

The Size Distribution of Homozygous Segments in the Human Genome

Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein Aglaia Athanassiadou, Gerassimos.

Presentation transcript:

Founder BRCA1 and BRCA2 Mutations in French Canadian Breast and Ovarian Cancer Families Patricia N. Tonin, Anne-Marie Mes-Masson, P. Andrew Futreal, Kenneth Morgan, Michelle Mahon, William D. Foulkes, David E.C. Cole, Diane Provencher, Parviz Ghadirian, Steven A. Narod The American Journal of Human Genetics Volume 63, Issue 5, Pages 1341-1351 (November 1998) DOI: 10.1086/302099 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Population distribution of BRCA1 and BRCA2 mutations identified in the French Canadian population. Only the southern region of the province of Quebec, including the Lac St. Jean/Saguenay region and the territory surrounding the St. Lawrence River, is depicted. Each symbol indicates the location of the grandparental generation of the families that have the BRCA1 mutations C4446T (blackened squares), 2953del3+C (blackened circles), 3768insA (blackened triangles), and C2598A (blackened diamonds) and those that have the BRCA2 mutations 8765delAG (grey-shaded squares), 2816insA (grey-shaded circles), G6085T (grey-shaded triangles), and 6503delTT (grey-shaded diamonds). The arrows with a symbol(s) indicate the location in northern Ontario and in New Brunswick of families with mutations. The divisions within the province represent catchment areas for each health care center (Centre Local de Services Communautaires). The American Journal of Human Genetics 1998 63, 1341-1351DOI: (10.1086/302099) Copyright © 1998 The American Society of Human Genetics Terms and Conditions