Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
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 …
disease presentation has been designated as evidence against pathogenicity for commonly …
Variants of uncertain significance in precision oncology: nuance or nuisance?
GS Mellgard, Z Atabek, M LaRose, F Kastrinos… - The …, 2024 - academic.oup.com
Variants of uncertain significance in precision oncology: nuance or nuisance? Page 1 The
Oncologist, 2024, XX, 1–4 https://doi.org/10.1093/oncolo/oyae135 Advance access publication …
Oncologist, 2024, XX, 1–4 https://doi.org/10.1093/oncolo/oyae135 Advance access publication …
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
X Yin, M Richardson, A Laner, X Shi, E Ognedal… - The American Journal of …, 2024 - cell.com
Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most
common hereditary gastrointestinal polyposis syndrome. To improve variant classification …
common hereditary gastrointestinal polyposis syndrome. To improve variant classification …
Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study
JG Karstensen, TO Hansen, J Burisch… - European Journal of …, 2024 - nature.com
Abstract In the Danish Polyposis Register, patients with over 100 cumulative colorectal
adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is …
adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is …
Complications of colonoscopy surveillance of patients with Lynch syndrome–33 years of follow up
A Frank, SW Bernstedt, N Jamizadeh, A Forsberg… - Familial Cancer, 2024 - Springer
Background and study aims: Lynch syndrome (LS) is a hereditary autosomal dominant
condition, with an increased lifetime risk of developing malignancies including colorectal …
condition, with an increased lifetime risk of developing malignancies including colorectal …
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c. 3920T> A p …
TP McVeigh, F Lalloo, IM Frayling… - Journal of Medical …, 2024 - jmg.bmj.com
The National Health Service (NHS) in the UK is a publicly funded entity, and decisions
regarding allocation of scarce resources for provision of services, including related to …
regarding allocation of scarce resources for provision of services, including related to …
Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of …
X Yin, ME Richardson, A Laner, X Shi, E Ognedal… - medRxiv, 2024 - medrxiv.org
Background: Pathogenic constitutional APC variants underlie familial adenomatous
polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve …
polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve …
Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes
MK Eldomery, JL Maciaszek, T Cain, VP Loyola… - medRxiv, 2024 - medrxiv.org
Purpose To assess the differences in variant classifications using the ACMG/AMP 2015
guidelines and the Bayesian point-based classification system (here referred to as the point …
guidelines and the Bayesian point-based classification system (here referred to as the point …
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections–a nationwide Danish cohort study with long-term follow-up
JG Karstensen, M Wewer, S Bülow, TVO Hansen… - 2024 - researchsquare.com
Background Familial adenomatous polyposis (FAP) predisposes individuals to duodenal
adenomas. This study describes the histopathological features of endoscopic and surgical …
adenomas. This study describes the histopathological features of endoscopic and surgical …
Особенности генетико-фенотипической корреляции у детей с аденоматозным полипозным синдромом
ЛР Хабибуллина, ОВ Щербакова, ВП Шубин… - …, 2024 - ruproctology.com
Особенности генетико-фенотипической корреляции у детей с аденомато Page 1 https://doi.org/10.33878/2073-7556-2024-23-3-79-86
Особенности генетико-фенотипической корреляции у детей с аденоматозным …
Особенности генетико-фенотипической корреляции у детей с аденоматозным …