Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

Barbara Rivera; Ester Castellsagué; Ismaël Bah; Léon C van Kempen; William D Foulkes

doi:10.1056/NEJMc1506878

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

Barbara Rivera, Ester Castellsagué, Ismaël Bah, Léon C van Kempen, William D Foulkes

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

75 Citations (Scopus)

Abstract

A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

Original language	English
Pages (from-to)	1985-1986
Number of pages	2
Journal	New England Journal of Medicine
Volume	373
Issue number	20
DOIs	https://doi.org/10.1056/NEJMc1506878
Publication status	Published - 12-Nov-2015
Externally published	Yes

Keywords

Adult
Alleles
Carcinoma/genetics
Colorectal Neoplasms/genetics
Deoxyribonuclease (Pyrimidine Dimer)/genetics
Female
Germ-Line Mutation
Humans
Male
Neoplasms, Multiple Primary/genetics
Pedigree
Phenotype

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title = "Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors",

abstract = "A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.",

keywords = "Adult, Alleles, Carcinoma/genetics, Colorectal Neoplasms/genetics, Deoxyribonuclease (Pyrimidine Dimer)/genetics, Female, Germ-Line Mutation, Humans, Male, Neoplasms, Multiple Primary/genetics, Pedigree, Phenotype",

author = "Barbara Rivera and Ester Castellsagu{\'e} and Isma{\"e}l Bah and {van Kempen}, {L{\'e}on C} and Foulkes, {William D}",

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day = "12",

doi = "10.1056/NEJMc1506878",

language = "English",

volume = "373",

pages = "1985--1986",

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T1 - Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

AU - Rivera, Barbara

AU - Castellsagué, Ester

AU - Bah, Ismaël

AU - van Kempen, Léon C

AU - Foulkes, William D

PY - 2015/11/12

Y1 - 2015/11/12

N2 - A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

AB - A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.

KW - Adult

KW - Alleles

KW - Carcinoma/genetics

KW - Colorectal Neoplasms/genetics

KW - Deoxyribonuclease (Pyrimidine Dimer)/genetics

KW - Female

KW - Germ-Line Mutation

KW - Humans

KW - Male

KW - Neoplasms, Multiple Primary/genetics

KW - Pedigree

KW - Phenotype

U2 - 10.1056/NEJMc1506878

DO - 10.1056/NEJMc1506878

M3 - Comment/Letter to the editor

C2 - 26559593

SN - 0028-4793

VL - 373

SP - 1985

EP - 1986

JO - New England Journal of Medicine

JF - New England Journal of Medicine

IS - 20

ER -

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

Abstract

Keywords

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