+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)

, : Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Familial Cancer 7(2): 163-172

The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n = 4)) were obtained, and incidence of cancers in those families was compared to that in the general population. There were a total of 982 cancers in 723 individuals. Colorectal cancer (CRC) was the commonest type (64% and 55% in individuals from families with germline MLH1 and MSH2 mutations respectively). Median age at diagnosis of first CRC in MSH6 mutation families was 59 years compared to 45 years in both MLH1 and MSH2 mutation families. The relative risk (RR) of endometrial cancer was 55 in MSH2 mutation families, compared with 27 in MLH1 mutation families, and 37 in MSH6 mutation families; median age at diagnosis 49 years. Even within MSH2 families, endometrial cancer tended to cluster, with 28 of the 58 cases coming from families with three or more cases (P < 0.001). Absolute risk of endometrial cancer in MLH1 families was still greater than any other cancer (other than CRC). 5% of cancers in both MLH1 and MSH2 mutation families were gastric (RR = 12); 53% of these were diagnosed before 50 years. Seven cases of small intestinal cancer occurred in MSH2 and MLH1 mutation families (RR = 26). There were 13 cases of cancer of the ureter; all were in MSH2 families. These cancers tended to cluster within families (P < 0.001); three of seven families with urothelial cancer had such cases in two or more individuals; two others had kidney cancer. Nineteen of 27 ovarian cancers (70%) were in MSH2 mutation families and 70% of these were diagnosed before age 50 years. There were 9 cases of sebaceous skin cancer, 3 in two MLH1 and 6 in four MSH2 mutation families. Of 22 pancreatic cancers, 14 were known to be diagnosed before 60 years. Breast cancer RR was 1.7 overall. The type of mutation (truncating or other type, and site of mutation) showed no obvious correlation with the presence or absence of extra-colonic cancers in families.


PMID: 17939062

DOI: 10.1007/s10689-007-9164-6

Other references

Sidhu, N.S., 1986: Gene juggling in buffaloes. Buffalo breeds and some crosses between them are briefly discussed with reference to their performance.

Bryant, J.; Prohmmo, A., 2001: Use of drug sellers by old people in Northeast Thailand. This paper describes an exploratory study on the use of private drug sellers by the elderly (aged >=60 years) in three districts in northeast Thailand. Fieldwork was carried out during 2000. The survey paid special attention to problems of unde...

Nishino, M.; Sholl, L.M.; Hodi, F.Stephen.; Hatabu, H.; Ramaiya, N.H., 2015: Anti-PD-1-Related Pneumonitis during Cancer Immunotherapy. New England Journal of Medicine 373(3): 288-290

Redpath, SM., 1995: Impact of habitat fragmentation on activity and hunting behavior in the tawny owl, Strix aluco. I examined the effect of woodland fragmentation on activity and hunting behavior in the tawny owl. I made three predictions on the effect of fragmentation, two of which were upheld and one rejected. Over 2 years, 24 owls were radio tracked in the...

Liu, J.P.; Yang, M.; Liu, Y.X.; Wei, M.L.; Grimsgaard, S., 2006: Herbal medicines for treatment of irritable bowel syndrome. Traditional herbal therapies have been used for a long time to treat gastrointestinal disorders including irritable bowel syndrome, and their effectiveness from clinical research evidence needs to be systematically reviewed. To assess the effectiv...

Prosser J.I., 1991: Mathematical modeling of vegetative growth of filamentous fungi. Arora, D K , Et Al (Ed ) Handbook Of Applied Mycology, Vol 1 Soil And Plants Xiii+720p Marcel Dekker, Inc : New York, New York, Usa; Basel, Switzerland Illus 591-624

Dave S.S., 1965: Igneous complex of western Saurashtra. Vasundhara 1: 127

Bassols D.B.rrera I.; Barrera A., 1972: Find of poedilochirus necrophori acarina parasitidae on necrophorus mexicanus coleoptera silphidae. Folia Entomologica Mexicana 23-24: 115

Lillie, R.D., 1943: Blood and Malaria Parasite Staining with Eosin Azure Methylene Blue Methods. Describes the method of prepn. of Giemsa stain, controlled through the use of spectroscopic studies, and suggests that the use by manufacturers of a spectro-graphic control in the production of stains would result in the manufacture of efficient a...

Billen, J.; Wilson, E.O.; Janet, C., 2008: Social insect histology from the nineteenth century: the magnificent pioneer sections of Charles Janet. Charles Janet (1849-1932) was the leading pioneer in the histological description of the internal anatomy of social insects, in particular of ants and wasps. Because many of the original Janet sections still exist, this article is able to illustr...