Risk of cancer death in first-degree relatives of patients with hereditary non-polyposis cancer syndrome (Lynch type II): A study of 130 kindreds in the United Kingdom

Abstract

To estimate the relative risks of cancer in first-degree relatives of index patients, 130 pedigrees of dominantly inherited Lynch type II cancer family syndrome have been analysed. The risk of death from all causes was significantly increased in women over 45 years of age and the overall liability to cancer in women was greater than for men. A sevenfold increase in risk of colon cancer was found in both sexes. In female relatives the risk of breast cancer was increased fivefold and lifetime risk of breast cancer was 1 in 3.7. A screening programme based on estimated risks could be offered to first-degree relatives of index patients with Lynch type II cancer family syndrome.

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome

“…There are conflicting reports on a possible increased risk of breast cancer in families with HNPCC/Lynch syndrome [6,[9][10][11][12][13][14]. Though breast cancer is not considered part of the tumor spectrum, MMR defective breast cancer has been described in a number of mutation carriers [10,11,[15][16][17][18][19].…”

Hereditary nonpolyposis colorectal cancer (HNPCC)

“…Subsequently, a series of international studies documented the existence of cancer families in countries around the world, including England (Itoh et al, 1990), New Zealand (Jass et al, 1992), the Netherlands (Vasen et al, 1989), Italy (Cristofaro et al, 1987;Ponz de Leon et al, 1989), Israel (Abusamra et al, 1987), and Finland (Mecklin et al, 1986). The Finnish group, having access to a population-based cancer registry, was able to demonstrate that the syndrome was not rare in that country (Mecklin, 1987).…”

Report of 16 kindreds and one kindred with hMLH1 germline mutation

“…Controversy exists whether these two kinds of cancers belong to the spectrum of HNPCC [25,26] . In China, breast and lung cancers are much less prevalent than those in the western worle, and it is interesting that the incidence of these two cancers among those families is far above the average level in China.…”