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Michael T Parsons

Explore the profile of Michael T Parsons including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 79
Citations 2591
Followers 0
Related Specialties
Genetics
Oncology
Biology
Top 10 Co-Authors
Amanda B Spurdle
Georgia Chenevix-Trench
Paolo Radice
David E Goldgar
Irene L Andrulis
Antonis C Antoniou
Ute Hamann
Fergus J Couch
Douglas F Easton
Barbara Wappenschmidt
Published In
Hum Mutat
Genet Med
Nat Commun
NPJ Breast Cancer
J Clin Oncol
Affiliations
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Recent Articles
1.
Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers
Li S, Madanat-Harjuoja L, Leslie G, Barnes D, Bolla M, Dennis J, et al.
J Natl Cancer Inst . 2024 Nov; PMID: 39585318
Background: Whether carriers of BRCA1 or BRCA2 (BRCA1/2) pathogenic variants (PVs) have increased risks of childhood, adolescent, and young adult (CAYA) cancers is controversial. We aimed to evaluate this risk...
2.
Analysis of more than 400,000 women provides case-control evidence for and variant classification
Zanti M, OMahony D, Parsons M, Dorling L, Dennis J, Boddicker N, et al.
medRxiv . 2024 Sep; PMID: 39281752
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating...
3.
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management
Innella G, Fortuno C, Caleca L, Feng B, Carroll C, Parsons M, et al.
Cancer Med . 2024 Aug; 13(16):e70114. PMID: 39194334
Background: BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evidence. Methods: Maximum...
4.
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet . 2024 Aug; 111(9):2044-2058. PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
5.
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Davidson A, Michailidou K, Parsons M, Fortuno C, Bolla M, Wang Q, et al.
Am J Hum Genet . 2024 Aug; 111(9):2059-2069. PMID: 39096911
Co-observation of a gene variant with a pathogenic variant in another gene that explains the disease presentation has been designated as evidence against pathogenicity for commonly used variant classification guidelines....
6.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to and
Zanti M, OMahony D, Parsons M, Li H, Dennis J, Aittomakkiki K, et al.
Hum Mutat . 2024 May; 2023. PMID: 38725546
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and...
7.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
Block I, Mateu-Regue A, Do T, Miceikaite I, Sdogati D, Larsen M, et al.
Breast Cancer Res . 2024 Jan; 26(1):6. PMID: 38195559
Background: Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods: We identified...
8.
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for
Innella G, Ferrari S, Miccoli S, Luppi E, Fortuno C, Parsons M, et al.
J Med Genet . 2023 Dec; 61(5):483-489. PMID: 38160042
Background: testing is crucial to guide clinical decisions in patients with hereditary breast/ovarian cancer, but detection of variants of uncertain significance (VUSs) prevents proper management of carriers. The ENIGMA (Evidence-based...
9.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study
Davidson A, Dressel U, Norris S, Canson D, Glubb D, Fortuno C, et al.
Genome Med . 2023 Sep; 15(1):74. PMID: 37723522
Background: Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition...
10.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Walker L, de la Hoya M, Wiggins G, Lindy A, Vincent L, Parsons M, et al.
Am J Hum Genet . 2023 Jun; 110(7):1046-1067. PMID: 37352859
The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1, PS3,...