ORCID Profile
0000-0003-1012-689X
Current Organisation
Garvan Institute of Medical Research
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Publisher: Elsevier BV
Date: 02-2007
Publisher: Wiley
Date: 12-05-2011
Publisher: Springer Science and Business Media LLC
Date: 31-08-2019
DOI: 10.1007/S12022-019-09587-0
Abstract: Somatic GNAS and USP8 mutations have been implicated in sporadic somatotrophinomas and corticotrophinomas, respectively. However, no genes are known to be recurrently mutated in sporadic prolactinomas. The prevalence of copy number variants (CNV), which is emerging as a mechanism of tumorigenesis in sporadic pituitary adenomas in general, is also unclear in prolactinomas. To characterize the genetic events underpinning sporadic prolactinomas, we performed whole exome sequencing of paired tumor and germline DNA from 12 prolactinoma patients. We observed recurrent large-scale CNV, most commonly in the form of copy number gains. We also identified sequence variants of interest in 15 genes. This included the DRD2, PRL, TMEM67, and MLH3 genes with plausible links to prolactinoma formation. Of the 15 genes of interest, CNV was seen at the gene locus in the corresponding tumor in 10 cases, and pituitary expression of eight genes was in the top 10% of tissues. However, none of our shortlisted somatic variants appeared to be classical driver mutations as no variant was found in more than one tumor. Future directions of research include mechanistic studies to investigate how CNV may contribute to prolactinoma formation, larger studies of relevant prolactinoma subsets according to clinical characteristics, and additional genetic investigations for aberrations not captured by whole exome sequencing.
Publisher: Scientific Societies
Date: 10-2005
DOI: 10.1094/PD-89-1131B
Abstract: Brassica juncea (L.) Czern & Coss (mustard) has potential as a more drought-tolerant oilseed crop than the Brassica napus, and the first two canola-quality B. juncea cultivars will be sown as large strip trials across Australia in 2005. This will allow commercial evaluation of oil and meal quality and for seed multiplication for the commercial release Australia-wide in 2006. Inspection of experimental B. juncea field plantings at Beverley (32°6′30″S, 116°55′22″E), and Wongan Hills (30°50′32″S, 116°43′33″E), Western Australia in September 2004 indicated the occurrence of extensive leaf spotting during B. juncea flowering. Symptoms of this disease included as many as 15 or more grayish white-to-brownish spot lesions per leaf, often with a distinct brown margin. Some elongate grayish stem lesions were also observed as reported earlier for B. napus oilseed rape (1). When affected materials were incubated in moist chambers for 48 h, abundant conidia typical of Pseudocercosporella capsellae (Ellis & Everh.) Deighton were observed that matched the descriptions of conidia given by Deighton (2) and those on B. napus in Western Australia (1). Five single-spore cultures from lesions were grown on water agar (WA) where the colonies characteristically produced purple-pink pigment in the agar after 2 weeks growth in an incubator maintained at 20°C with a 12-h photoperiod (3). Since agar cultures of P. capsellae rarely produce conidia (3), this observation helped with the verification of the cultures. Mycelial inoculum from these cultures was used to inoculate cotyledons of 50 7-day-old plants of B. juncea to satisfy Koch's postulates. Small pieces of mycelia were teased out from the surface of the growing margin of potato dextrose agar (PDA) cultures and inoculated onto both lobes of each cotyledon and plants incubated in a 100% humidity chamber for 48 h within a controlled environment room maintained at 20/15°C (day/night) with a 12-h photoperiod. After 2 weeks, lesions 5 to 8 mm in diameter were observed on the cotyledons. There were no symptoms on control plants that were treated with water only. Lesions on infected cotyledons incubated on moist filter paper for 24 h produced abundant cylindrical conidia showing 2 to 3 septa measuring 42.9 to 71.4 μm long and 2.9 to 3.1 μm wide. Single-spore isolations from these conidia produced typical P. capsellae colonies showing purple-pink pigments in WA, and dark, compacted, and slow-growing colonies with a dentate margin on PDA. White leaf spot caused by P. capsellae is an important disease of crucifers worldwide, but to our knowledge, this is the first report of P. capsellae on B. juncea in Australia. In Western Australia, P. capsellae occurs on B. napus oilseed rape (1) and in 1956, 1984, and 1987, it was recorded on B. rapa, B. oleracea, and B. chinensis, respectively (4), and on the same range of Brassica hosts in other regions of Australia. References: (1) M. J. Barbetti and K. Sivasith aram. Aust. Plant Pathol.10:43, 1981. (2) F. C. Deighton. Commonw. Mycol. Inst. Mycol. Pap. 133:42, 1973. (3) S. T. Koike. Plant Dis. 80:960, 1996. (4) R. G. Shivas. J. R. Soc. West. Aust. 72:1, 1989.
Publisher: Springer Science and Business Media LLC
Date: 04-06-2011
Publisher: Wiley
Date: 21-03-2019
DOI: 10.1002/IJC.32234
Publisher: Springer Science and Business Media LLC
Date: 2014
Publisher: Springer Science and Business Media LLC
Date: 13-04-2021
DOI: 10.1038/S41375-021-01246-W
Abstract: The majority of studies assessing the contribution of pathogenic germline variants (PGVs) to cancer predisposition have focused on patients with single cancers. We analyzed 45 known cancer predisposition genes (CPGs) in germline s les of 202 patients with hematological malignancies (HMs) plus one or more other independent cancer managed at major tertiary medical centers on two different continents. This included 120 patients with therapy-related myeloid neoplasms (t-MNs), where the HM occurred after cytotoxic treatment for a first malignancy, and 82 patients with multiple cancers in which the HM was not preceded by cytotoxic therapy (MC-HM). Using American College of Medical Genetics/Association for Molecular Pathology variant classification guidelines, 13% of patients had PGVs, most frequently identified in CHEK2 (17% of PGVs), BRCA1 (13%), DDX41 (13%), and TP53 (7%). The frequency of PGVs in MC-HM was higher than in t-MN, although not statistically significant (18 vs. 9% p = 0.085). The frequency of PGVs in lymphoid and myeloid HM patients was similar (19 vs. 17.5% p > 0.9). Critically, patients with PGVs in BRCA1, BRCA2 or TP53 did not satisfy current clinical phenotypic criteria for germline testing. Our data suggest that a personal history of multiple cancers, one being a HM, should trigger screening for PGVs.
Publisher: Oxford University Press (OUP)
Date: 23-12-2017
DOI: 10.1104/PP.16.01840
No related grants have been discovered for Leila Eshraghi.