Apparent Mendelian inheritance of breast and colorectal cancer: Chance, genetic heterogeneity or a new gene?

Familial Cancer

Volumn 1, Issue 3-4, 2001, Pages 189-195

  Lipton, L ^a,b,c   Thomas, H J W ^a   Eeles, R A ^d   Houlston, R S ^d   Longmuir, M ^e   Davison, R ^e   Hodgson, S V ^b   Murday, V A ^f   Norbury, C G ^g   Taylor, C ^c   Tomlinson, I P M ^c,g  

^a ST MARK S HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^d INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f ST GEORGE S HOSPITAL   (United Kingdom)

^g CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Breast cancer; Colorectal tumour; Familial; Genetic

Indexed keywords

APC PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN BMPR1A; PROTEIN KINASE LKB1; PROTEIN LKB; PROTEIN MLH1; PROTEIN MSH2; UNCLASSIFIED DRUG;

BREAST CANCER; CANCER SCREENING; CANCER SUSCEPTIBILITY; CLUSTER ANALYSIS; COLORECTAL CANCER; FAMILIAL CANCER; GENE LOCUS; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; INHERITANCE; MULTIPLE CANCER; PRIORITY JOURNAL; REVIEW;

ADULT; BREAST NEOPLASMS; COLORECTAL NEOPLASMS; FEMALE; GENE FREQUENCY; GENES, APC; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES;

EID: 6444245422     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021101014264     Document Type: Review

References (23)

1. Houlston RS, Peto J. Genetics and the common cancers. In Eeles RA et al. (eds), Genetic Predisposition to Cancer. Chapman Hall: London, 1996.
2. Aarnio M et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999; 81(2): 214-8.
3. Risinger JI et al. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer 1996; 77(9): 1836-43.
4. Ford D et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343(8899): 692-5.
5. Nelen MR et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6(8): 1383-7.
6. Zhou XP et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001; 69(4): 704-11.
7. Eng C. Genetics of Cowden syndrome: Through the looking glass of oncology. Int J Oncol 1998; 12(3): 701-10.
8. Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet 1997; 34(12): 1007-11.
9. Easton DF et al. The genetic epidemiology of BRCA1. Breast Cancer Linkage Consortium. Lancet 1994; 344(8924): 761.
10. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999; 91(15); 1310-6.
11. Lin KM et al. Colorectal cancer in hereditary breast cancer kindreds. Dis Colon Rectum, 1999; 42(8): 1041-5.
12. Risch HA et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001; 68(3): 700-10.
13. Evans HS et al. Cancer risks in women with 2 breast or ovarian cancers: Clues to genetic cancer susceptibility. Int J Cancer 2001; 94(5): 758-9.
14. Chen-Shtoyerman R et al. The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients. Br J Cancer 2001; 84(4): 475-7.
15. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993; 71(3): 677-85.
16. Boyd J et al. Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 1999; 53(1): 87-91.
17. Peelen T et al. Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis. Int J Cancer 2000; 88(5): 778-82.
18. Vasen HF, Morreau H, Nortier JW. Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet 2001; 68(6): 1533-5.
19. Scott RJ et al. Hereditary nonpolyposis colorectal cancer in 95 families: Differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001; 68(1): 118-27.
20. Houlston R, Tomlinson I. Detecting low penetrance genes in cancer: The way ahead. J Med Genet 2000; 37: 161-7.
21. Meijers-Heijboer H et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31(1): 55-9.
22. Laken SJ et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997; 17: 79-83.
23. Woodage T et al. The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 1998; 20(1): 62-5.