Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

doi:10.1016/j.ajhg.2024.07.013

Article

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

American journal of human genetics - 5 Sept 2024

Parsons Michael T, de la Hoya Miguel, Richardson Marcy E, Tudini Emma, Anderson Michael, Berkofsky-Fessler Windy, Caputo Sandrine M, Chan Raymond C, Cline Melissa S, Feng Bing-Jian, Fortuno Cristina, Gomez-Garcia Encarna, Hadler Johanna, Hiraki Susan, Holdren Megan, Houdayer Claude, Hruska Kathleen, James Paul, Karam Rachid, Leong Huei San, Martins Alexandra, Mensenkamp Arjen R, Monteiro Alvaro N, Nathan Vaishnavi, O'Connor Robert, Pedersen Inge Sokilde, Pesaran Tina, Radice Paolo, Schmidt Gunnar, Southey Melissa, Tavtigian Sean, Thompson Bryony A, Toland Amanda E, Turnbull Clare, Vogel Maartje J, Weyandt Jamie, Wiggins George A R, Zec Lauren, Couch Fergus J, Walker Logan C, Vreeswijk Maaike P G, Goldgar David E, Spurdle Amanda B

Abstract excerpt

The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as a ClinGen external expert panel, evolved into a ClinGen internal Variant Curation Expert Panel (VCEP) to align with Food and Drug Administration recognized processes for ClinVar contributions. The...

Topics

Humans
BRCA2 Protein
BRCA1 Protein
Female
Genetic Variation
Breast Neoplasms

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Abstract excerpt

Topics

Discuss the evidence

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