Two truncating variants in FANCC and breast cancer risk

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95% CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants

Horizons marins, itinéraires spirituels (Ve-XVIIIe siècles). Volume II.

Les 26 contributions réunies dans ce volume renouvellent quelques-uns des secteurs de l'histoire maritime, en attirant l'attention sur la méthodologie, les recherches récentes, les problématiques nouvelles, la recherche interdisciplinaire, l'archéologie, l'iconographie et le roman. On suit pendant deux millénaires quelques-uns des nombreux changements qui ont affecté les façades océaniques des cinq continents, en Amérique latine comme à Madagascar et dans l'Océan Indien, sur les rivages de la Méditerranée comme dans le commerce eurasien. Quelques thèmes demeurent privilégiés, les navires et la navigation, les marines de guerre et les politiques navales des États, l'exploitation des littoraux et les installations portuaires, les marchandises et les frets, les tonnages et les mesures, les assurances maritimes. Les marins, voyageurs, pèlerins, missionnaires, marchands, tous ces gens de mer occupent une grande place dans cet ouvrage, qui traite de la famille, de la formation et des apprentissages, de la santé et des maladies professionnelles, des croyances et des genres de vie. Ce volume qui fait toute sa place à l'histoire des mentalités s'honore de multiples contributions internationales et de la collaboration de quelques spécialistes, médecin, architecte naval..., issus des gens de mer

The origins of Odense – new aspects of early urbanisation in southern Scandinavia

The article presents an updated study of the centuries prior to Odense’s traditional ‘birth certificate’ of AD 988, resulting in a new model for the urbanisation of Odense. The conclusion reached is that there was activity of a permanent and possibly urban character in Odense from the end of the late eighth century until the late tenth century. The town’s development can be followed through three phases. Phases 1 and 2 cover the periods AD 700–900 and AD 900–100, respectively, while phase 3 covers the period AD 1000-1101. During phases 1 and 2, the proto-town develops through bottomup processes, such as network, crafts and possibly trade. After AD 1000, Odense develops into a town proper, under royal influence. The model from Odense provides the background for a fresh view of urbanisation in southern Scandinavia in general. A three-phase model is proposed. Phase 0 constitutes the emporia of the eighth–ninth century, which perhaps primarily is satellites in a trading network controlled from the south. Phase 1 takes the form of locally initiated and based incipient urbanisation extending from the end of the eighth century until the tenth century. Phase 2 comprises the royally established towns from around AD 1000 onwards