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Investigator

Kim E. Nichols

Course in Genomics, 2 one-on-one sessions / year · St. Jude Children's Research Hospital, St. Jude Masters in Clinical Investigation Program

Papers

Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents—To Test or not to Test?

Abstract With the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PV) in adult-onset cancer predisposition genes (aoCPG) underlying adult-onset cancer predisposition syndromes, such as Lynch syndrome or hereditary breast and ovarian cancer, are enriched and reported in 1% to 2% of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. The best-studied examples include heterozygous PVs in mismatch repair genes associated with Lynch syndrome in children with mismatch repair deficient high-grade glioma, heterozygous PVs in BARD1 in childhood neuroblastoma, and heterozygous PVs in BRCA2 in children with rhabdomyosarcoma. The low penetrance for pediatric cancers is considered to result from a combination of the low baseline risk of cancer in childhood and the report of only a modest relative risk of disease in childhood. Therefore, we do not advise that healthy children empirically be tested for PVs in an aoCPG before adulthood outside a research study. However, germline panel testing is increasingly being performed in children and adolescents with cancer, and exome and genome sequencing may be offered more commonly in this population in the future. The precise pediatric cancer risks and spectra associated with PVs in aoCPGs, underlying cellular mechanisms and somatic mutational signatures, as well as treatment response, second neoplasm risks, and psycho-oncological aspects require further research.

342Works

1Papers

10Collaborators

Positions

2022–

Course in Genomics, 2 one-on-one sessions / year

St. Jude Children's Research Hospital · St. Jude Masters in Clinical Investigation Program

2017–

Member

St. Jude Children's Research Hospital · Hematologic Malignancies Program, Comprehensive Cancer Center

2014–

Full Member

St. Jude Children's Research Hospital · Oncology

2014–

Director

St. Jude Children's Research Hospital · Division of Cancer Predisposition

2014–

Member

St. Jude Children's Research Hospital · Histiocytosis and Immune Dysregulation Treatment Team

2018–

Chair

St. Jude Children's Research Hospital · Scholarly Oversight Committee, Camille Keenan, MD and Jason Schwartz, MD, PhD

2015–

Member

St. Jude Children's Research Hospital · Scholarly Oversight Committee, Jessica Valdez, MD, Marta Salek, MD, R. Sharma, MD, Taylor Aglio, MD

2021–

External Member, Caroline Diorio, MD

CHOP · Thesis Committee

2007–

Associate Professor

University of Pennsylvania Perelman School of Medicine · Pediatrics

2007–

Member

University of Pennsylvania Perelman School of Medicine · Immunology Graduate Group

1999–

Assistant Professor

University of Pennsylvania Perelman School of Medicine · Pediatrics

1995–

Instructor in Medicine

Children's Hospital Boston · Pediatrics

1995–

Member

Harvard University School of Medicine · Center for Cancer Risk Analysis, Massachusetts General Hospital

1995–

Attending Physician

Harvard University School of Medicine · Pediatric Hematology-Oncology

1995–

Disease Chairperrson

Harvard University School of Medicine · Histiocytosis, Dana-Farber Cancer Institute

1995–

Member

University of Pennsylvania Perelman School of Medicine · Children's Hospital Medical Associates

1995–

Attending Physician

University of Pennsylvania Perelman School of Medicine · Oncology, The Children's Hospital of Pennsylvania

1995–

Director

University of Pennsylvania Perelman School of Medicine · Pediatric Hereditary Cancer Predisposition Program, The Children's Hospital of Philadelphia

Education

2000

Post-Doc

Massachusetts General Hospital · Molecular Genetics

1995

Fellowship

Dana-Farber Cancer Institute · Pediatric Oncology

1992

Residency

Boston Children's Hospital · Pediatrics

1989

M.D.

Duke University School of Medicine · Medicine

1984

B.A.

Dartmouth College · Biology

Country

Links & IDs

0000-0002-5581-6555

Scopus: 35516174000

Researcher Id: E-9353-2016