Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

Variants of uncertain clinical significance (VUS) in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 represent a major obstacle in genetic counseling of high-risk breast cancer families. We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.

Combination of a higher-tier flow-through system and population modeling to assess the effects of time-variable exposure of isoproturon on the green algae Desmodesmus subspicatus and Pseudokirchneriella subcapitata.

A flow-through system was developed to investigate the effects of time-variable exposure of pesticides on algae. A recently developed algae population model was used for simulations supported and verified by laboratory experiments. Flow-through studies with Desmodesmus subspicatus and Pseudokirchneriella subcapitata under time-variable exposure to isoproturon were performed, in which the exposure patterns were based on the results of FOrum for Co-ordination of pesticide fate models and their USe (FOCUS) model calculations for typical exposure situations via runoff or drain flow.

Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.

Lynch syndrome is characterized by germline mutations of the DNA mismatch repair genes MLH1 and MSH2. The tumor spectrum includes early onset colorectal, urogenital and other cancers. Soft tissue sarcomas have been anecdotally reported in patients with Lynch syndrome, but coincidental manifestation could not be excluded.

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.

Background: The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies suggest strongly that this variant is associated with breast cancer risk in the general population.

Methods: To evaluate whether TGFB1 L10P also modifies the risk of breast cancer in BRCA1 or BRCA2 mutation carriers, we undertook a multi-center study of 3,442 BRCA1 and 2,095 BRCA2 mutation carriers.

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.

The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies.

User subjectivity in Monte Carlo modeling of pesticide exposure.

Monte Carlo techniques are increasingly used in pesticide exposure modeling to evaluate the uncertainty in predictions arising from uncertainty in input parameters and to estimate the confidence that should be assigned to the modeling results. The approach typically involves running a deterministic model repeatedly for a large number of input values sampled from statistical distributions. In the present study, six modelers made choices regarding the type and parameterization of distributions assigned to degradation and sorption data for an example pesticide, the correlation between the parameters, the tool and method used for sampling, and the number of samples generated.

Determination of molecular orientational order in cold-stretched poly(p-phenylene vinylene) thin films by DECODER 13C NMR.

The properties of poly(p-phenylene vinylene) (PPV) films depend on the degree of orientational order present in the films. Recently, Dermaut et al. reported a novel cold-stretching technique (Macromolecules 33, 5634-5637 (2000)) in which chain alignment can be introduced into PPV precursor films by uniaxially stretching them prior to the thermal elimination reaction that forms PPV.