Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations Ying Wu,

Slides:

Advertisements

Similar presentations

Lynch Syndrome and Colorectal Cancer Steven G. Proshan, M.D. Annapolis Colon and Rectal Surgeons Anne Arundel Medical Center November 8,

Advertisements

COLORECTAL BLEEDING: a multidisciplinary approach Torino, 31 marzo-1 aprile 2006 GENETIC EVALUATION Schena M, Angelini F, Bertetto O. Department of Medical.

Lecture 22 Cancer Genetics II: Inherited Susceptibility to Cancer Stephen B. Gruber, MD, PhD November 19, 2002.

Mechanisms and Epidemiology of Colon Cancer

MLH 1 and Hereditary Nonpolyposis Colorectal Cancer

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.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Lynch Syndrome or Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation Gisela Keller, Holger Vogelsang,

Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined.

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,

Volume 115, Issue 6, Pages (December 1998)

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds Rodney.

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers Katharina Balschun, Jochen Haag, Ann-Kathrin.

Detection of Microsatellite Instability in Colorectal Cancer Using an Alternative Multiplex Assay of Quasi-Monomorphic Mononucleotide Markers Vanessa.

Volume 126, Issue 2, Pages (February 2004)

Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation

High Rate of Mosaicism in Tuberous Sclerosis Complex

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes Axel Bohring,

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy Alessandra Ferlini,

I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P

Federico Canzian, Patrizia Amati, H

Volume 141, Issue 1, Pages e23-e26 (July 2011)

Shih-Jen Hwang, Guillermina Lozano, Christopher I. Amos, Louise C

Noralane M Lindor Clinical Gastroenterology and Hepatology

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

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome Laura S. Schmidt, Michael L. Nickerson,

Inherited DNA-Repair Defects in Colorectal Cancer

Volume 58, Issue 5, Pages (November 2000)

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

Heterogeneous Staining for Mismatch Repair Proteins during Population-Based Prescreening for Hereditary Nonpolyposis Colorectal Cancer Natasha Watson,

Harry R. Hill, Nancy H. Augustine, Robert J. Pryor, Gudrun H

Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease Stephen J. Meltzer, Manfred Wolter Journal.

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

EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell,

Laurent Gouya Journal of Investigative Dermatology

Jennifer A. Hempelmann, Sheena M. Scroggins, Colin C

Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan,

A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome Sabine M. Klauck, Susan Lindsay, Kim S. Beyer,

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

The Case ∣ A young man with acute kidney injury after exercise

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer Ramprasath Venkatachalam Gastroenterology

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

Erratum The American Journal of Human Genetics

Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds Rodney.

Colorectal cancer at a young age

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

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

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

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria U.B. Rüfenacht, L. Gouya, X. Schneider-Yin,

Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia A. Ducros, C. Denier,

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa Monika Buraczynska, Weiping Wu, Ricardo.

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.

Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 Mutation: Potential Impact of CNTF as a Candidate Modifier Gene Ralf Giess,

Mutations in CHEK2 Associated with Prostate Cancer Risk

Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

Inherited DNA-Repair Defects in Colorectal Cancer

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis Ronja Adam, Isabel Spier, Bixiao.

Alice S. Whittemore, Jerry Halpern

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T

Presentation transcript:

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations Ying Wu, Maran J.W. Berends, Rob G.J. Mensink, Claudia Kempinga, Rolf H. Sijmons, Ate G.J. van der Zee, Harry Hollema, Jan H. Kleibeuker, Charles H.C.M. Buys, Robert M.W. Hofstra The American Journal of Human Genetics Volume 65, Issue 5, Pages 1291-1298 (November 1999) DOI: 10.1086/302612 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of the five families with suspected HNPCC and MSH6 mutations. Of these five families, four (D805, D840, Div682, and HNPCC49) had MSI-low tumors. The index patient in family Div448 had a tumor displaying an MSI-high phenotype. Squares represent males; circles, females; diagonal stripes, patients who died; unblackened symbols, no tumor; blackened symbols, patients with histologically verified carcinomas; gray symbols, patients with tumors that were not histologically verified. Abbreviations indicate the site of cancer: bas = basocellular; bili = bile duct; brc = breast; cns = brain; cra = adenoma of the colon; crc = colon; end = endometrium; leu = leucemia; lu = lung; ov = ovary; pr = prostate; pyl = pyelum; sk = skin; st =stomach; ure = ureter; ? = tumor of unknown origin. The numbers after the abbreviations indicate the age at onset of cancer diagnosis. The American Journal of Human Genetics 1999 65, 1291-1298DOI: (10.1086/302612) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Two-dimensional DNA separation patterns of the 21 PCR-amplified fragments representing all exons of the MSH6 gene, with the exception of exon 1. Exon 4 is amplified in 11 fragments; exons 3 and 5 are each amplified in two fragments. A, Two-dimensional separation pattern of a control individual. B, Two-dimensional separation pattern from patient Div682 (see table 1). Comparison of A and B clearly shows a heterozygous mutation in exon 8 of patient Div682. This mutation results in four spots (two homoduplexes and two heteroduplexes). The American Journal of Human Genetics 1999 65, 1291-1298DOI: (10.1086/302612) Copyright © 1999 The American Society of Human Genetics Terms and Conditions