Pancreatic Neoplasms: | HELP | |
Articles by Quang M. Trinh |
Between 2009 and 2019, Quang M. Trinh wrote the following article about Pancreatic Neoplasms. |
1 | Article | Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. 2013 |
Grant, Robert C / Al-Sukhni, Wigdan / Borgida, Ayelet E / Holter, Spring / Kanji, Zaheer S / McPherson, Treasa / Whelan, Emily / Serra, Stefano / Trinh, Quang M / Peltekova, Vanya / Stein, Lincoln D / McPherson, John D / Gallinger, Steven. ·Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, Canada. ·Hum Genomics · Pubmed #23561644. ABSTRACT: 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. |
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