Breast cancer in an MSH2 gene mutation carrier

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

“…Their overrepresentation in colorectal cancers in HNPCC has been clearly established, whereas a possible role in breast cancer remains to be clarified. Lymphocytic reactions in HNPCCassociated breast cancer have previously only been reported in one of the case studies, which identified extensive lymphocytic infiltrates [15]. Half of the cancers here investigated showed lymphocytic reactions and if indeed present at the high frequency suggested here, it could represent a potential marker for MMR defective breast cancer in individuals with HNPCC/Lynch syndrome.…”

“…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]. In order to characterize the role of MMR in breast cancers that have developed in HNPCC families, we identified such cases in the national Danish HNPCC register and herein evaluated tumor morphology and MMR status.…”

Evidence for breast cancer as an integral part of lynch syndrome

“…In contrast to who found neither MSI nor altered MMR expression in three breast cancers from MMR mutation carriers , De Leeuw et al, using an extended set of markers, observed MSI in eight of 11 breast cancers from seven unrelated Lynch syndrome families (de Leeuw et al, 2003). Westenend et al described a female MSH2 mutation carrier whose breast cancer showed MSI and loss of heterozygosity at the MSH2 locus (Westenend et al, 2005). Recently, Blokhuis et al investigated the extracolonic cancer spectrum in females with the common ''South African'' MLH1 c.1528C>T mutation.…”

“…In fact, the lifetime risk for endometrial (Watson et al, 1994;Aarnio et al, 1995;Aarnio et al, 1999) and ovarian cancers (Watson et al, 2001) is estimated at 30-60% and 12%, respectively, compared with 3 and 2%, respectively, in the general population. An elevated risk for breast cancer in Lynch syndrome has been suggested in several studies, but the issue remains controversial (Risinger et al, 1996;Scott et al, 2001;Vasen et al, 2001;Muller et al, 2002;de Leeuw et al, 2003;Oliveira Ferreira et al, 2004;Watson and Riley, 2005;Westenend et al, 2005;Blokhuis et al, 2008;Shanley et al, 2009).…”

Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2

“…Breast cancer was diagnosed in 2 of 105 women (1.9%) who underwent bilateral prophylactic mastectomy and in 184 of 378 matched controls (48.7%) who did not have surgery, suggesting that bilateral prophylactic mastectomy reduces the risk of breast cancer by ϳ90% in women who have a BRCA1/2 mutation. 130 Table 3 Other inherited cancer susceptibility syndromes and/or genes that predispose to breast cancer [123][124][125] Several studies have documented a significant (80 -96%) risk reduction in ovarian cancer after risk-reducing oophorectomy. [131][132][133] Histologic evaluation of the tissues removed for risk reduction has revealed a wide spectrum of both occult ovarian cancers and primary fallopian tube tumors, supporting the removal of both ovaries and fallopian tubes at the time of surgery.…”