Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

Genes Chromosomes Cancer. 2018 Jan;57(1):19-27
Pubmed Abstract

Continue Reading


Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmed, Esther Nuebel, Mika Moriwaki, Barry Moore, Katherine A Peacock, Tim Mosbruger, Deborah W Neklason, Lynn B Jorde, Mark Yandell, Corrine K Welt

"Genomic Analysis Data were analyzed using Opal 4.15 (Fabric Genomics, Inc., Oakland, CA) in a four-person VAAST cohort
analysis including the affected sisters ( …Clinical analysis of genome next-generation sequencing data using the Omicia platform."

"The Phenotype Driven Variant Ontological Re-ranking tool (Phevor)(26) was used to re-rank the prioritized genes using premature ovarian failure and POI as
Human Phenotype Ontology seed terms (27)."

"Intervention DNA was subjected to whole genome sequencing. Shared regions of homozygosity were identified using Truploidy and prioritized using the Variant Annotation, Analysis and Search Tool (VAAST) with control data from 387 healthy subjects …"

The Journal of Clinical Endocrinology & Metabolism, jc.2017-01966, Dec. 12, 2017
Pubmed Abstract
Download PDF