Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome

• Published in: Breast cancer research and treatment Vol. 53; no. 1; pp. 87 - 91
• Main Authors: BOYD, J, RHEI, E, FEDERICI, M. G, BORGEN, P. I, WATSON, P, FRANKLIN, B, KARR, B, LYNCH, J, LEMON, S. J, LYNCH, H. T
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer 1999; Springer Nature B.V
• Subjects: Aged; Alleles; Biological and medical sciences; Breast cancer; Breast Neoplasms, Male - complications; Breast Neoplasms, Male - genetics; Cancer research; Cancer therapies; Carcinoma, Ductal, Breast - complications; Carcinoma, Ductal, Breast - genetics; Colorectal cancer; Colorectal Neoplasms, Hereditary Nonpolyposis - complications; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; DNA Primers; Gastroenterology. Liver. Pancreas. Abdomen; Germ-Line Mutation; Gynecology. Andrology. Obstetrics; Humans; Loss of Heterozygosity; Male; Mammary gland diseases; Medical sciences; Microsatellite Repeats - genetics; Pedigree; Polymerase Chain Reaction; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; Early stage; Tumoral marker; Malignant tumor; Homozygosity; Colonic disease; Mammary gland diseases; Microsatellite DNA; Digestive diseases; Intestinal disease; Colon; Mammary gland; Inheritance(genetics); Mutation
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1023/A:1006030116357

A male member of a large HNPCC kindred, affected by primary malignancies of the breast and colon, was identified. This individual was found to harbor a germline mutation of the MLH1 mismatch repair gene previously shown to segregate with disease in this kindred. The breast tumor exhibited somatic reduction to homozygosity for the MLH1 mutation, and microsatellite instability was evident in the breast tumor. We conclude that hereditary male breast cancer can occur as an integral tumor in the HNPCC syndrome.