Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical as...
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
About this item
Full title
Author / Creator
Luo, Xi , Maciaszek, Jamie L , Thompson, Bryony A , Leong, Huei San , Dixon, Katherine , Sousa, Sónia , Anderson, Michael , Roberts, Maegan E , Lee, Kristy , Spurdle, Amanda B , Mensenkamp, Arjen R , Brannan, Terra , Pardo, Carolina , Zhang, Liying , Pesaran, Tina , Wei, Sainan , Fasaye, Grace-Ann , Kesserwan, Chimene , Shirts, Brian H , Davis, Jeremy L , Oliveira, Carla , Plon, Sharon E , Schrader, Kasmintan A , Karam, Rachid , Anderson, Michael , Brannan, Terra , Carneiro, Fatima , Chao, Elizabeth , Corso, Giovanni , Currie, Lauren , Davis, Jeremy L , Dixon, Katherine , Fasaye, Grace-Ann , Figuerido, Joana , Karam, Rachid , Kaurah, Pardeep , Kesserwan, Chimene , Lee, Kristy , Leong, Huei San , Luo, Xi , Maciaszek, Jamie L , Mensenkamp, Arjen R , Oliveira, Carla , Pardo, Carolina , Pesaran, Tina , Plon, Sharon E , Roberts, Maegan E , Schrader, Kasmintan A , Shirts, Brian H , Sousa, Sónia , Spurdle, Amanda B , Tavtigian, Sean , Thompson, Bryony A , Wei, Sainan , Yang, Sheng-An , Zhang, Liying and ClinGen CDH1 Variant Curation Expert Panel
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundGermline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast cancer. Risk reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding on these procedures. The Clinical Genome Res...
Alternative Titles
Full title
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
Authors, Artists and Contributors
Author / Creator
Maciaszek, Jamie L
Thompson, Bryony A
Leong, Huei San
Dixon, Katherine
Sousa, Sónia
Anderson, Michael
Roberts, Maegan E
Lee, Kristy
Spurdle, Amanda B
Mensenkamp, Arjen R
Brannan, Terra
Pardo, Carolina
Zhang, Liying
Pesaran, Tina
Wei, Sainan
Fasaye, Grace-Ann
Kesserwan, Chimene
Shirts, Brian H
Davis, Jeremy L
Oliveira, Carla
Plon, Sharon E
Schrader, Kasmintan A
Karam, Rachid
Anderson, Michael
Brannan, Terra
Carneiro, Fatima
Chao, Elizabeth
Corso, Giovanni
Currie, Lauren
Davis, Jeremy L
Dixon, Katherine
Fasaye, Grace-Ann
Figuerido, Joana
Karam, Rachid
Kaurah, Pardeep
Kesserwan, Chimene
Lee, Kristy
Leong, Huei San
Luo, Xi
Maciaszek, Jamie L
Mensenkamp, Arjen R
Oliveira, Carla
Pardo, Carolina
Pesaran, Tina
Plon, Sharon E
Roberts, Maegan E
Schrader, Kasmintan A
Shirts, Brian H
Sousa, Sónia
Spurdle, Amanda B
Tavtigian, Sean
Thompson, Bryony A
Wei, Sainan
Yang, Sheng-An
Zhang, Liying
ClinGen CDH1 Variant Curation Expert Panel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10202836
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10202836
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2022-108807
