An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: Interpretation of results and significance for risk assessment and genetic counseling

2009 ◽  
Vol 149A (4) ◽  
pp. 732-736 ◽  
Author(s):  
Fatimah Nahhas ◽  
James Garbern ◽  
Shawna Feely ◽  
Gerald L. Feldman
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Huntington Disease ◽  
Disease Allele ◽  
Reduced Penetrance ◽  
Interpretation Of Results

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease

2001 ◽  
Vol 105 (8) ◽  
pp. 737-744 ◽  
Author(s):  
Anneke Maat-Kievit ◽  
Paula Helderman-van den Enden ◽  
Monique Losekoot ◽  
Peter de Knijff ◽  
Ren� Belfroid ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Huntington Disease ◽  
Reduced Penetrance

Correlates of Depressive Symptoms Among Women Seeking Cancer Genetic Counseling and Risk Assessment at a High-Risk Cancer Clinic

2006 ◽  
Vol 15 (4) ◽  
pp. 267-276 ◽  
Author(s):  
Molly Middlecamp Kodl ◽  
Judith W. Lee ◽  
Alicia K. Matthews ◽  
Shelly A. Cummings ◽  
Olufunmilayo I. Olopade
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Depressive Symptoms ◽  
High Risk ◽  
Cancer Genetic Counseling ◽  
Cancer Genetic ◽  
High Risk Cancer ◽  
Cancer Clinic

Hereditary Cancer Syndromes: Risk Assessment and Genetic Counseling

2019 ◽  
pp. 1-27
Author(s):  
Rachel Webster ◽  
Sarah A. Bannon ◽  
Samuel M. Hyde ◽  
Ashley H. Woodson ◽  
Nancy Yi‐Qian You ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Hereditary Cancer ◽  
Hereditary Cancer Syndromes ◽  
Cancer Syndromes

scholarly journals Huntington disease reduced penetrance alleles occur at high frequency in the general population

Neurology ◽  
2016 ◽  
Vol 87 (3) ◽  
pp. 282-288 ◽  
Author(s):  
Chris Kay ◽  
Jennifer A. Collins ◽  
Zosia Miedzybrodzka ◽  
Steven J. Madore ◽  
Erynn S. Gordon ◽  
...  
Keyword(s):  
General Population ◽  
Huntington Disease ◽  
High Frequency ◽  
Reduced Penetrance

scholarly journals Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

2020 ◽  
Author(s):  
Keith Nykamp ◽  
Rebecca Truty ◽  
Darlene Riethmaier ◽  
Julia Wilkinson ◽  
Sara L. Bristow ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Family History ◽  
Hereditary Cancer ◽  
Phenotypic Variability ◽  
Clinical Information ◽  
History Of ◽  
Disease Risks ◽  
Reduced Penetrance ◽  
The Individual ◽  
Single Organ

ABSTRACTPurposeTo evaluate the risk and spectrum of phenotypes associated in individuals with one or two of the CFTR T5 haplotype variants (TG11T5, TG12T5 and TG13T5) in the absence of the R117H variant.MethodsIndividuals who received testing with CFTR NGS results between 2014 and 2019 through Invitae at ordering provider discretion were included. TG-T repeats were detected using a custom-developed haplotype caller. Frequencies of the TG-T5 variants (biallelic or in combination with another CF-causing variant [CFvar]) were calculated. Clinical information reported by the ordering provider (via requisition form) or the individual (during genetic counseling appointments) was examined.ResultsAmong 548,300 individuals, the minor allele frequency of the T5 allele was 4.2% (TG repeat distribution: TG11=68.1%, TG12=29.5%, TG13=2.4%). When present with a CFvar, each of the TG[11-13]T5 variants were significantly enriched in individuals with a “high suspicion” of CF/CFTR-RD (personal/family history of CF/CFTR-RD) compared to those with very “low suspicion” for CF or CFTR-RD (hereditary cancer testing, CFTR not requisitioned). Compared to CFvar/CFvar individuals, TG[11-13]T5/CFvar individuals generally had single organ involvement, milder symptoms, variable expressivity, and reduced penetrance.DiscussionData from this study provides a better understanding of disease risks associated with inheriting TG[11-13]T5 variants and has important implications for reproductive genetic counseling.

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