Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: FH: 1067T>A

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 1067T>A; Leu356Ter

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FH: 1067T>A; Leu356Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Breast Cancer Research And Treatment

Ellingson, Marissa S MS; Hart, Steven N SN; Kalari, Krishna R KR; Suman, Vera V; Schahl, Kimberly A KA; Dockter, Travis J TJ; Felten, Sara J SJ; Sinnwell, Jason P JP; Thompson, Kevin J KJ; Tang, Xiaojia X; Vedell, Peter T PT; Barman, Poulami P; Sicotte, Hugues H; Eckel-Passow, Jeanette E JE; Northfelt, Donald W DW; Gray, Richard J RJ; McLaughlin, Sarah A SA; Moreno-Aspitia, Alvaro A; Ingle, James N JN; Moyer, Ann M AM; Visscher, Daniel W DW; Jones, Katie K; Conners, Amy A; McDonough, Michelle M; Wieben, Eric D ED; Wang, Liewei L; Weinshilboum, Richard R; Boughey, Judy C JC; Goetz, Matthew P MP

Publication Date: 2015-09

Variant appearance in text: FH: 1067T>A; L356X

PubMed Link: 26296701

Variant Present in the following documents:

• Main text
• 10549_2015_Article_3545.pdf

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