Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics

Mariona Terradas; Nelson Martins; Anna K. Sommer; Arvids Irmejs; Solve-RD DITF-GENTURIS

Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics

Mariona Terradas
, Nelson Martins
, Anna K. Sommer
, Arvids Irmejs
, Solve-RD DITF-GENTURIS

Institute of Oncology and Molecular Genetics

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Article number	C13.05
Pages (from-to)	36-37
Number of pages	2
Journal	European Journal of Human Genetics
Volume	33
Issue number	Suppl.1
Publication status	Published - Nov 2025
Event	58th Conference of the European Society of Human Genetics - Milan, Italy Duration: 24 May 2025 → 27 May 2025 Conference number: 58

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Field of Science*

3.2 Clinical medicine

Publication Type*

3.3. Publications in conference proceedings indexed in Web of Science and/or Scopus database

Cite this

@article{49d81b023875421d9830e7446d2af2b1,

title = "Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics",

author = "Mariona Terradas and Nelson Martins and Sommer, \{Anna K.\} and Paske, \{Iris B. A. W. Te\} and Jose. Garcia-Pelaez and German Demidov and Leslie Matalonga and Isabel Spier and Silva, \{Ana Raquel\} and Sousa, \{Ana Berta\} and Susana Fernandes and Luzia Garrido and Juliette Dupont and Sofia Maia and Gabriela Sousa and Arvids Irmejs and Valeria Barili and Ana Blatnik and Steven Laurie and Concepcion Lazaro and Nicoline Hoogerbrugge and \{De Voer\}, \{Richarda M.\} and Stefan Aretz and Laura Valle and Carla Oliveira and \{Solve-RD DITF-GENTURIS\}",

year = "2025",

month = nov,

language = "English",

volume = "33",

pages = "36--37",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "Suppl.1",

note = "58th Conference of the European Society of Human Genetics , ESHG ; Conference date: 24-05-2025 Through 27-05-2025",

}

Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics. / Terradas, Mariona; Martins, Nelson; Sommer, Anna K. et al.
In: European Journal of Human Genetics, Vol. 33, No. Suppl.1, C13.05, 11.2025, p. 36-37.

Research output: Contribution to journal › Meeting Abstract › peer-review

TY - JOUR

T1 - Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics

AU - Terradas, Mariona

AU - Martins, Nelson

AU - Sommer, Anna K.

AU - Paske, Iris B. A. W. Te

AU - Garcia-Pelaez, Jose.

AU - Demidov, German

AU - Matalonga, Leslie

AU - Spier, Isabel

AU - Silva, Ana Raquel

AU - Sousa, Ana Berta

AU - Fernandes, Susana

AU - Garrido, Luzia

AU - Dupont, Juliette

AU - Maia, Sofia

AU - Sousa, Gabriela

AU - Irmejs, Arvids

AU - Barili, Valeria

AU - Blatnik, Ana

AU - Laurie, Steven

AU - Lazaro, Concepcion

AU - Hoogerbrugge, Nicoline

AU - De Voer, Richarda M.

AU - Aretz, Stefan

AU - Valle, Laura

AU - Oliveira, Carla

AU - Solve-RD DITF-GENTURIS

N1 - Conference code: 58

PY - 2025/11

Y1 - 2025/11

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=rsu_pure_&SrcAuth=WosAPI&KeyUT=WOS:001671157900080&DestLinkType=FullRecord&DestApp=WOS_CPL

M3 - Meeting Abstract

SN - 1018-4813

VL - 33

SP - 36

EP - 37

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl.1

M1 - C13.05

T2 - 58th Conference of the European Society of Human Genetics

Y2 - 24 May 2025 through 27 May 2025

ER -

Whole-genome sequencing analysis of unsolved cases with multiple primary rare tumors and early-onset diagnoses enhances hereditary cancer diagnostics

UN SDGs

Field of Science*

Publication Type*

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Cite this