Hereditary diffuse gastric cancer: updated clinical practice guidelines
VR Blair, M McLeod, F Carneiro, DG Coit… - The Lancet …, 2020 - thelancet.com
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is
characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is …
characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is …
Gastric cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up☆
More than 1 million (1 089 103) new cases of gastric cancer were estimated globally in
2020, resulting in 768 793 deaths. 1 These burden estimates will continue to increase due to …
2020, resulting in 768 793 deaths. 1 These burden estimates will continue to increase due to …
Hereditary diffuse gastric cancer
L Decourtye-Espiard, P Guilford - Gastroenterology, 2023 - Elsevier
Hereditary diffuse gastric cancer (HDGC) is a dominantly inherited cancer syndrome
characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer …
characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer …
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
A new genomic framework to categorize pediatric acute myeloid leukemia
Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific
driver alterations, many of which are underrepresented in the current classification schemas …
driver alterations, many of which are underrepresented in the current classification schemas …
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …
given unique features of the mtDNA genome, including maternal inheritance, variant …
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
Overview of specifications to the ACMG/AMP variant interpretation guidelines
SM Harrison, LG Biesecker… - Current protocols in …, 2019 - Wiley Online Library
The 2015 ACMG/AMP guidelines established a classification system for sequence variants;
however, the broad scope of these guidelines necessitates specification of evidence types …
however, the broad scope of these guidelines necessitates specification of evidence types …
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
The genetics of relapsed pediatric acute myeloid leukemia (AML) has yet to be
comprehensively defined. Here, we present the spectrum of genomic alterations in 136 …
comprehensively defined. Here, we present the spectrum of genomic alterations in 136 …
Expanding ACMG variant classification guidelines into a general framework
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …