Open Access
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
Peter Horak
1
,
Malachi Griffith
2
,
Arpad M Danos
2
,
Beth A Pitel
3
,
Subha Madhavan
4
,
Liu Xuelu
5
,
Cynthia Chow
6
,
Heather Williams
7
,
Leigh Carmody
8
,
Lisa Barrow Laing
9
,
Damian Rieke
10
,
Simon Kreutzfeldt
1
,
Albrecht Stenzinger
11
,
David Tamborero
12
,
Manuela Benary
10
,
Padma Sheila Rajagopal
13
,
Cristiane M Ida
3
,
Harry Lesmana
14
,
Laveniya Satgunaseelan
15
,
Jason D. Merker
16
,
Michael Y Tolstorukov
5
,
Paulo Vidal Campregher
17
,
Jeremy L Warner
18
,
Shruti Rao
4
,
Maya Natesan
2
,
Haolin Shen
2
,
Jeffrey Venstrom
19
,
Somak Roy
20
,
Kayoko Tao
21
,
Rashmi Kanagal-Shamanna
22
,
Xinjie Xu
3
,
Deborah I. Ritter
23
,
Kym Pagel
24
,
Kilannin Krysiak
2
,
Adrian Dubuc
25
,
Yassmine M Akkari
26
,
Xuan Shirley Li
27
,
Jennifer Lee
28
,
Ian King
29
,
Gordana Raca
30
,
Alex H Wagner
31, 32
,
Marylin M Li
33
,
Sharon E. Plon
23
,
Shashikant Kulkarni
23
,
Obi L. Griffith
2
,
Debyani Chakravarty
34
,
Dmitriy Sonkin
35
1
2
Washington University School of Medicine in St. Louis, St. Louis, MO
|
6
BC Cancer Agency, Vancouver, British Columbia, Canada
|
9
QIAGEN Inc, Redwood City, CA
|
13
17
Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil
|
19
Foundation Medicine, Inc, Cambridge, MA
21
National Cancer Center Hospital, Tokyo, Japan
|
25
26
Legacy Health, Portland, OR
27
Congenica Ltd, Cambridge, United Kingdom
|
29
University Health Network, Toronto, Ontario, Canada
|
Тип публикации: Journal Article
Дата публикации: 2022-05-01
scimago Q1
wos Q1
БС1
SJR: 2.683
CiteScore: 14.1
Impact factor: 6.2
ISSN: 10983600, 15300366
PubMed ID:
35101336
Genetics (clinical)
Краткое описание
Abstract
Purpose
Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. Although these guidelines for the clinical interpretation of variants include data types that may be used to determine the oncogenicity of a variant (eg, population frequency, functional, and in silico data or somatic frequency), they do not provide a direct, systematic, and comprehensive set of standards and rules to classify the oncogenicity of a somatic variant. This insufficient guidance leads to inconsistent classification of rare somatic variants in cancer, generates variability in their clinical interpretation, and, importantly, affects patient care. Therefore, it is essential to address this unmet need.
Methods
Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group and ClinGen Germline/Somatic Variant Subcommittee, the Cancer Genomics Consortium, and the Variant Interpretation for Cancer Consortium used a consensus approach to develop a standard operating procedure (SOP) for the classification of oncogenicity of somatic variants.
Results
This comprehensive SOP has been developed to improve consistency in somatic variant classification and has been validated on 94 somatic variants in 10 common cancer-related genes.
Conclusion
The comprehensive SOP is now available for classification of oncogenicity of somatic variants.
Найдено
Ничего не найдено, попробуйте изменить настройки фильтра.
Найдено
Ничего не найдено, попробуйте изменить настройки фильтра.
Топ-30
Журналы
|
1
2
3
4
5
6
|
|
|
Cancers
6 публикаций, 3.53%
|
|
|
Scientific Reports
6 публикаций, 3.53%
|
|
|
Frontiers in Oncology
5 публикаций, 2.94%
|
|
|
Genetics in Medicine
5 публикаций, 2.94%
|
|
|
International Journal of Molecular Sciences
5 публикаций, 2.94%
|
|
|
Neuro-Oncology
4 публикации, 2.35%
|
|
|
European Journal of Cancer
4 публикации, 2.35%
|
|
|
Journal of Molecular Diagnostics
4 публикации, 2.35%
|
|
|
Virchows Archiv
3 публикации, 1.76%
|
|
|
JCO Precision Oncology
3 публикации, 1.76%
|
|
|
npj Precision Oncology
3 публикации, 1.76%
|
|
|
Neuropathology
3 публикации, 1.76%
|
|
|
Human Genomics
3 публикации, 1.76%
|
|
|
Nature Communications
3 публикации, 1.76%
|
|
|
BMC Cancer
2 публикации, 1.18%
|
|
|
Cold Spring Harbor molecular case studies
2 публикации, 1.18%
|
|
|
Blood
2 публикации, 1.18%
|
|
|
Heliyon
2 публикации, 1.18%
|
|
|
Nucleic Acids Research
2 публикации, 1.18%
|
|
|
Leukemia
2 публикации, 1.18%
|
|
|
Cancer Medicine
2 публикации, 1.18%
|
|
|
European Journal of Human Genetics
2 публикации, 1.18%
|
|
|
Molecular Oncology
2 публикации, 1.18%
|
|
|
Cancer genetics
2 публикации, 1.18%
|
|
|
bioRxiv
2 публикации, 1.18%
|
|
|
Cancer Research Communications
2 публикации, 1.18%
|
|
|
Biomedicines
2 публикации, 1.18%
|
|
|
Journal of Clinical Medicine
2 публикации, 1.18%
|
|
|
Journal of Clinical Endocrinology and Metabolism
1 публикация, 0.59%
|
|
|
1
2
3
4
5
6
|
Издатели
|
5
10
15
20
25
30
35
40
45
|
|
|
Springer Nature
45 публикаций, 26.47%
|
|
|
Elsevier
32 публикации, 18.82%
|
|
|
MDPI
21 публикация, 12.35%
|
|
|
Oxford University Press
15 публикаций, 8.82%
|
|
|
Wiley
15 публикаций, 8.82%
|
|
|
Frontiers Media S.A.
10 публикаций, 5.88%
|
|
|
Cold Spring Harbor Laboratory
10 публикаций, 5.88%
|
|
|
American Association for Cancer Research (AACR)
4 публикации, 2.35%
|
|
|
American Society of Clinical Oncology (ASCO)
3 публикации, 1.76%
|
|
|
American Society of Hematology
2 публикации, 1.18%
|
|
|
Research Square Platform LLC
2 публикации, 1.18%
|
|
|
Rockefeller University Press
2 публикации, 1.18%
|
|
|
The Endocrine Society
1 публикация, 0.59%
|
|
|
Taylor & Francis
1 публикация, 0.59%
|
|
|
Harborside Press, LLC
1 публикация, 0.59%
|
|
|
Ovid Technologies (Wolters Kluwer Health)
1 публикация, 0.59%
|
|
|
SAGE
1 публикация, 0.59%
|
|
|
American Society for Clinical Investigation
1 публикация, 0.59%
|
|
|
BMJ
1 публикация, 0.59%
|
|
|
5
10
15
20
25
30
35
40
45
|
- Мы не учитываем публикации, у которых нет DOI.
- Статистика публикаций обновляется еженедельно.
Вы ученый?
Создайте профиль, чтобы получать персональные рекомендации коллег, конференций и новых статей.
Метрики
170
Всего цитирований:
170
Цитирований c 2024:
130
(76.47%)
Цитировать
ГОСТ |
RIS |
BibTex |
MLA
Цитировать
ГОСТ
Скопировать
Horak P. et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) // Genetics in Medicine. 2022. Vol. 24. No. 5. pp. 986-998.
ГОСТ со всеми авторами (до 50)
Скопировать
Horak P., Griffith M., Danos A. M., Pitel B. A., Madhavan S., Xuelu L., Chow C., Williams H., Carmody L., Barrow Laing L., Rieke D., Kreutzfeldt S., Stenzinger A., Tamborero D., Benary M., Rajagopal P. S., Ida C. M., Lesmana H., Satgunaseelan L., Merker J. D., Tolstorukov M. Y., Campregher P. V., Warner J. L., Rao S., Natesan M., Shen H., Venstrom J., Roy S., Tao K., Kanagal-Shamanna R., Xu X., Ritter D. I., Pagel K., Krysiak K., Dubuc A., Akkari Y. M., Li X. S., Lee J., King I., Raca G., Wagner A. H., Li M. M., Plon S. E., Kulkarni S., Griffith O. L., Chakravarty D., Sonkin D. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) // Genetics in Medicine. 2022. Vol. 24. No. 5. pp. 986-998.
Цитировать
RIS
Скопировать
TY - JOUR
DO - 10.1016/j.gim.2022.01.001
UR - https://doi.org/10.1016/j.gim.2022.01.001
TI - Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
T2 - Genetics in Medicine
AU - Horak, Peter
AU - Griffith, Malachi
AU - Danos, Arpad M
AU - Pitel, Beth A
AU - Madhavan, Subha
AU - Xuelu, Liu
AU - Chow, Cynthia
AU - Williams, Heather
AU - Carmody, Leigh
AU - Barrow Laing, Lisa
AU - Rieke, Damian
AU - Kreutzfeldt, Simon
AU - Stenzinger, Albrecht
AU - Tamborero, David
AU - Benary, Manuela
AU - Rajagopal, Padma Sheila
AU - Ida, Cristiane M
AU - Lesmana, Harry
AU - Satgunaseelan, Laveniya
AU - Merker, Jason D.
AU - Tolstorukov, Michael Y
AU - Campregher, Paulo Vidal
AU - Warner, Jeremy L
AU - Rao, Shruti
AU - Natesan, Maya
AU - Shen, Haolin
AU - Venstrom, Jeffrey
AU - Roy, Somak
AU - Tao, Kayoko
AU - Kanagal-Shamanna, Rashmi
AU - Xu, Xinjie
AU - Ritter, Deborah I.
AU - Pagel, Kym
AU - Krysiak, Kilannin
AU - Dubuc, Adrian
AU - Akkari, Yassmine M
AU - Li, Xuan Shirley
AU - Lee, Jennifer
AU - King, Ian
AU - Raca, Gordana
AU - Wagner, Alex H
AU - Li, Marylin M
AU - Plon, Sharon E.
AU - Kulkarni, Shashikant
AU - Griffith, Obi L.
AU - Chakravarty, Debyani
AU - Sonkin, Dmitriy
PY - 2022
DA - 2022/05/01
PB - Springer Nature
SP - 986-998
IS - 5
VL - 24
PMID - 35101336
SN - 1098-3600
SN - 1530-0366
ER -
Цитировать
BibTex (до 50 авторов)
Скопировать
@article{2022_Horak,
author = {Peter Horak and Malachi Griffith and Arpad M Danos and Beth A Pitel and Subha Madhavan and Liu Xuelu and Cynthia Chow and Heather Williams and Leigh Carmody and Lisa Barrow Laing and Damian Rieke and Simon Kreutzfeldt and Albrecht Stenzinger and David Tamborero and Manuela Benary and Padma Sheila Rajagopal and Cristiane M Ida and Harry Lesmana and Laveniya Satgunaseelan and Jason D. Merker and Michael Y Tolstorukov and Paulo Vidal Campregher and Jeremy L Warner and Shruti Rao and Maya Natesan and Haolin Shen and Jeffrey Venstrom and Somak Roy and Kayoko Tao and Rashmi Kanagal-Shamanna and Xinjie Xu and Deborah I. Ritter and Kym Pagel and Kilannin Krysiak and Adrian Dubuc and Yassmine M Akkari and Xuan Shirley Li and Jennifer Lee and Ian King and Gordana Raca and Alex H Wagner and Marylin M Li and Sharon E. Plon and Shashikant Kulkarni and Obi L. Griffith and Debyani Chakravarty and Dmitriy Sonkin},
title = {Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)},
journal = {Genetics in Medicine},
year = {2022},
volume = {24},
publisher = {Springer Nature},
month = {may},
url = {https://doi.org/10.1016/j.gim.2022.01.001},
number = {5},
pages = {986--998},
doi = {10.1016/j.gim.2022.01.001}
}
Цитировать
MLA
Скопировать
Horak, Peter, et al. “Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).” Genetics in Medicine, vol. 24, no. 5, May. 2022, pp. 986-998. https://doi.org/10.1016/j.gim.2022.01.001.