Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer

We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the variant allele. Both variants were absent in a relative with FPC. These findings question the causal mechanisms of ATM and PALB2 in these families and highlight challenges in identifying the causes of familial cancer syndromes using exome sequencing.

Medienart:

E-Artikel

Erscheinungsjahr:

2013

Erschienen:

2013

Enthalten in:

Zur Gesamtaufnahme - volume:7

Enthalten in:

Human genomics - 7(2013) vom: 05. Apr., Seite 11

Sprache:

Englisch

Beteiligte Personen:

Grant, Robert C [VerfasserIn]
Al-Sukhni, Wigdan [VerfasserIn]
Borgida, Ayelet E [VerfasserIn]
Holter, Spring [VerfasserIn]
Kanji, Zaheer S [VerfasserIn]
McPherson, Treasa [VerfasserIn]
Whelan, Emily [VerfasserIn]
Serra, Stefano [VerfasserIn]
Trinh, Quang M [VerfasserIn]
Peltekova, Vanya [VerfasserIn]
Stein, Lincoln D [VerfasserIn]
McPherson, John D [VerfasserIn]
Gallinger, Steven [VerfasserIn]

Links:

Volltext

Themen:

ATM protein, human
Ataxia Telangiectasia Mutated Proteins
Codon, Nonsense
EC 2.7.11.1
Fanconi Anemia Complementation Group N Protein
Journal Article
Nuclear Proteins
PALB2 protein, human
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Tumor Suppressor Proteins

Anmerkungen:

Date Completed 26.11.2013

Date Revised 21.03.2022

published: Electronic

Citation Status MEDLINE

doi:

10.1186/1479-7364-7-11

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM226442764