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

doi:10.1007/s10549-015-3545-6

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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 - 1 Sept 2015

Ellingson Marissa S, Hart Steven N, Kalari Krishna R, Suman Vera, Schahl Kimberly A, Dockter Travis J, Felten Sara J, Sinnwell Jason P, Thompson Kevin J, Tang Xiaojia, Vedell Peter T, Barman Poulami, Sicotte Hugues, Eckel-Passow Jeanette E, Northfelt Donald W, Gray Richard J, McLaughlin Sarah A, Moreno-Aspitia Alvaro, Ingle James N, Moyer Ann M, Visscher Daniel W, Jones Katie, Conners Amy, McDonough Michelle, Wieben Eric D, Wang Liewei, Weinshilboum Richard, Boughey Judy C, Goetz Matthew P

Abstract excerpt

When sequencing blood and tumor samples to identify targetable somatic variants for cancer therapy, clinically relevant germline variants may be uncovered. We evaluated the prevalence of deleterious germline variants in cancer susceptibility genes in women with breast cancer referred for neoadjuvant chemotherapy and returned clinically actionable results to patients. Exome sequencing was performed on blood...

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Identifiers

PMID: 26296701
DOI: 10.1007/s10549-015-3545-6
PMCID: PMC4559569

Genes

ATM
BLM
BRCA1
BRCA2
CHEK2
FANCA
FANCI
FANCL
FANCM
MLH3
MUTYH
PALB2
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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