Skip to main content

Inherited Predisposition: Familial Aggregation and High Risk Genes

  • Chapter
  • First Online:
Breast Cancer Epidemiology

Abstract

The heritable component of breast cancer has been long recognized, as illustrated in the 1866 report, by a French physician of 10 breast cancer cases in four generations of his wife’s family (Broca 1866). Family history of breast cancer is the single most well-established risk factor for breast cancer and confers some of the strongest effects seen among known breast cancer risk factors. The accumulation of epidemiologic evidence has clarified that the increased risk of breast cancer conferred by a positive family history varies with the degree of kinship, the number of affected relatives, and the onset ages in relatives and/or the women under study.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Albrektsen G, Heuch I, Kvale G (1995) The short-term and long-term effect of a pregnancy on breast cancer risk: a prospective study of 802,457 parous Norwegian women. Br J Cancer 72:480–484

    CAS  PubMed  Google Scholar 

  • Anderson DE, Badzioch MD (1985) Bilaterality in familial breast cancer patients. Cancer 56:2092–2098

    CAS  PubMed  Google Scholar 

  • Andrieu N, Goldgar DE, Easton DF et al (2006) Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst 98:535–544

    PubMed  Google Scholar 

  • Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 83:1301–1308

    Google Scholar 

  • Antoniou A, Pharoah PD, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130

    CAS  PubMed  Google Scholar 

  • Antoniou AC, Pharoah PD, McMullan G et al (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86:76–83

    CAS  PubMed  Google Scholar 

  • Antoniou AC, Pharoah PD, Narod S et al (2005) Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 42:602–603

    CAS  PubMed  Google Scholar 

  • Apicella C, Andrews L, Hodgson SV et al (2003) Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Br Cancer Res 5:R206–R216

    Google Scholar 

  • Arcand SL, Maugard CM, Ghadirian P et al (2008) Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. Br Cancer Res Treat 108:399–408

    CAS  Google Scholar 

  • Armstrong K, Schwartz JS, Randall T, Rubin SC, Weber B (2004) Hormone replacement therapy and life expectancy after prophylactic oophorectomy in women with BRCA1/2 mutations: a decision analysis. J Clin Oncol 22:1045–1054

    PubMed  Google Scholar 

  • Basham VM, Lipscombe JM, Ward JM et al (2002) BRCA1 and BRCA2 mutations in a population-based study of male breast cancer. Br Cancer Res 4:R2

    CAS  Google Scholar 

  • Begg CB, Haile RW, Borg A et al (2008) Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299:194–201

    CAS  PubMed  Google Scholar 

  • Bishop DT, Cannon-Albright L, McLellan T, Gardner EJ, Skolnick MH (1988) Segregation and linkage analysis of nine Utah breast cancer breast cancer pedigrees. Genet Epidemiol 5:151–169

    CAS  PubMed  Google Scholar 

  • Boardman LA, Thibodeau SN, Schaid DJ et al (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899

    CAS  PubMed  Google Scholar 

  • Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C et al (2007) Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, B. Eur J Cancer 43:867–876

    CAS  PubMed  Google Scholar 

  • Broca P (1866) Traite des tumeurs. Libraire de la Faculte de Medicine, Paris

    Google Scholar 

  • Broeks A, Urbanus JH, Floore AN et al (2000) ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet 66:494–500

    CAS  PubMed  Google Scholar 

  • Brohet RM, Goldgar DE, Easton DF et al (2007) Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol 25:3831–3836

    PubMed  Google Scholar 

  • Byrne C, Brinton LA, Haile RW, Schairer C (1991) Heterogeneity of the effect of family history on breast cancer risk. Epidemiology 2:276–284

    CAS  PubMed  Google Scholar 

  • Byrski T, Gronwald J, Huzarski T et al (2008) Response to neo-adjuvant chemotherapy in women with BRCA1-positive breast cancers. Br Cancer Res Treat 108:289–296

    CAS  Google Scholar 

  • Carpenter CL, Ross RK, Paganini-Hill A, Bernstein L (2003) Effect of family history, obesity and exercise on breast cancer risk among postmenopausal women. Int J Cancer 106:96–102

    CAS  PubMed  Google Scholar 

  • Casagrande JT, Hanisch R, Pike MC, Ross RK, Brown JB, Henderson BE (1988) A case-control study of male breast cancer. Cancer Res 48:1326–1330

    CAS  PubMed  Google Scholar 

  • Casey PM, Cerhan JR, Pruthi S (2008) Oral contraceptive use and risk of breast cancer. Mayo Clin Proc 83:86–90

    PubMed  Google Scholar 

  • Colditz GA (1993) Epidemiology of breast cancer Findings from the Nurses' Health Study. Cancer 71:1480–1489

    CAS  PubMed  Google Scholar 

  • Chang-Claude J, Andrieu N, Rookus M et al (2007) Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev 16:740–746

    PubMed  Google Scholar 

  • Chappuis PO, Goffin J, Wong N et al (2002) A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 39:608–610

    CAS  PubMed  Google Scholar 

  • CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175–1182

    Google Scholar 

  • Chen S, Iversen ES, Friebel T et al (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24:863–871

    CAS  PubMed  Google Scholar 

  • Chenevix-Trench G, Spurdle AB, Gatei M et al (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94:205–215

    PubMed  Google Scholar 

  • Claus EB, Risch NJ, Thompson WD (1990) Using age onset fo distinguish between subforms of breast cancer. Ann Hum Genet 54:169–177

    CAS  PubMed  Google Scholar 

  • Colditz GA, Willett WC, Hunter DJ et al (1993) Family history, age, and risk of breast cancer. Prospective data from the Nurses' Health Study. JAMA 270:338–343

    CAS  PubMed  Google Scholar 

  • Colditz GA (1996) Postmenopausal estrogens and breast cancer. J Soc Gynecol Investig 3:50–56

    CAS  PubMed  Google Scholar 

  • Collaborative Group on Hormonal Factors in Breast Cancer (1997) Breast cancer and hormone replacement therapy: collaborative reanalysis of data from 51 epidemiological studies of 52705 women with breast cancer and 108411 women without breast cancer. Lancet 350:1047–1059

    Google Scholar 

  • Collaborative Group on Hormonal Factors in Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358:1389–1399

    Google Scholar 

  • Concannon P, Haile RW, Borresen-Dale AL et al (2008) Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res 68:6486–6491

    CAS  PubMed  Google Scholar 

  • Couch FJ, Deshano ML, Blackwood MA et al (1997) BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 336:1409–1415

    CAS  PubMed  Google Scholar 

  • Couch FJ, Farid LM, Deshano ML et al (1996) BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 13:123–125

    CAS  PubMed  Google Scholar 

  • Cui J, Antoniou AC, Dite GS et al (2001) After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 68:420–431

    CAS  PubMed  Google Scholar 

  • Cullinane CA, Lubinski J, Neuhausen SL et al (2005) Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 117:988–991

    CAS  PubMed  Google Scholar 

  • de Bock GH, Jacobi CE, Seynaeve C et al (2008) A family history of breast cancer will not predict female early onset breast cancer in a population-based setting. BMC Cancer 8:203

    PubMed  Google Scholar 

  • de Jong MM, Nolte IM, te Meerman GJ et al (2002) Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet 39:225–242

    PubMed  Google Scholar 

  • Domchek SM, Weber BL (2006) Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene 25:5825–5831

    CAS  PubMed  Google Scholar 

  • Eakin CM, Maccoss MJ, Finney GL, Klevit RE (2007) Estrogen receptor alpha is a putative substrate for the BRCA1 ubiquitin ligase. Proc Natl Acad Sci U S A 104:5794–5799

    CAS  PubMed  Google Scholar 

  • Easton DF, Deffenbaugh AM, Pruss D et al (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 81:873–883

    CAS  PubMed  Google Scholar 

  • Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265–271

    CAS  PubMed  Google Scholar 

  • Egan KM, Newcomb PA, Longnecker MP et al (1996) Jewish religion and risk of breast cancer. Lancet 347:1645–1646

    CAS  PubMed  Google Scholar 

  • Eisen A, Lubinski J, Klijn J et al (2005) Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 23:7491–7496

    PubMed  Google Scholar 

  • Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319

    CAS  PubMed  Google Scholar 

  • Ewertz M, Holmberg L, Tretli S, Pedersen BV, Kristensen A (2001) Risk factors for male breast cancer – a case-control study from Scandinavia. Acta Oncol 40:467–471

    CAS  PubMed  Google Scholar 

  • Fan S, Wang J, Yuan R et al (1999) BRCA1 inhibition of estrogen receptor signaling in transfected cells. Science 284:1354–1356

    CAS  PubMed  Google Scholar 

  • Ferla R, Calo V, Cascio S et al (2007) Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 18(Suppl 6):vi93-vi98.

    PubMed  Google Scholar 

  • Figueiredo JC, Haile RW, Bernstein L, Malone KE, Largent J, Lynch CF, Bertelsen L, Capanu M, Concannon P, Borg A, Borresen-Dale AL (2009) WECARE Study Collaborative Group, and Bernstein JL Oral contraceptives and post-menopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA 2 mutation carriers and non-carriers: The WECARE Study. Br Cancer Res Treat

    Google Scholar 

  • Fitzgerald MG, Bean JM, Hegde SR et al (1997) Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 15:307–310

    CAS  PubMed  Google Scholar 

  • Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994) Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343:692–695

    CAS  PubMed  Google Scholar 

  • Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676–689

    CAS  PubMed  Google Scholar 

  • Friedman LS, Gayther SA, Kurosaki T et al (1997) Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 60:313–319

    CAS  PubMed  Google Scholar 

  • Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni JF Jr, Li FP (1991) Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51:6094–6097

    CAS  PubMed  Google Scholar 

  • Ghadirian P, Lubinski J, Lynch H et al (2004) Smoking and the risk of breast cancer among carriers of BRCA mutations. Int J Cancer 110:413–416

    CAS  PubMed  Google Scholar 

  • Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ (2004) Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2. Am J Hum Genet 75:535–544

    CAS  PubMed  Google Scholar 

  • Grabrick DM, Hartmann LC, Cerhan JR et al (2000) Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer. JAMA 284:1791–1798

    CAS  PubMed  Google Scholar 

  • Gronwald J, Byrski T, Huzarski T et al (2006) Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland. Br Cancer Res Treat 95:105–109

    Google Scholar 

  • Gronwald J, Tung N, Foulkes WD et al (2006) Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118:2281–2284

    CAS  PubMed  Google Scholar 

  • Haffty BG, Lannin D (2004) Is breast-conserving therapy in the genetically predisposed breast cancer patient a reasonable and appropriate option?. Eur J Cancer 40:1105–1108

    CAS  PubMed  Google Scholar 

  • Haile RW, Thomas DC, McGuire V et al (2006) BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiol Biomarkers Prev 15:1863–1870

    CAS  PubMed  Google Scholar 

  • Hall JM, Lee MK, Newman B et al (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689

    CAS  PubMed  Google Scholar 

  • Haraldsson K, Loman N, Zhang QX, Johannsson O, Olsson H, Borg A (1998) BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 58:1367–1371

    CAS  PubMed  Google Scholar 

  • Hartge P, Chatterjee N, Wacholder S, Brody LC, Tucker MA, Struewing JP (2002) Breast cancer risk in Ashkenazi BRCA1/2 mutation carriers: effects of reproductive history. Epidemiology 13:255–261

    PubMed  Google Scholar 

  • Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 64:963–970

    CAS  PubMed  Google Scholar 

  • Hartmann LC, Sellers TA, Schaid DJ et al (2001) Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93:1633–1637

    CAS  PubMed  Google Scholar 

  • Heine GF, Parvin JD (2007) BRCA1 control of steroid receptor ubiquitination. Sci STKE 2007:e34

    Google Scholar 

  • Hemminki A, Avizienyte E, Roth S et al (1998) [A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]. Duodecim 114:667–668

    CAS  PubMed  Google Scholar 

  • Honrado E, Osorio A, Palacios J, Benitez J (2006) Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations. Oncogene 25:5837–5845

    CAS  PubMed  Google Scholar 

  • Jernstrom H, Lubinski J, Lynch HT et al (2004) Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 96:1094–1098

    CAS  PubMed  Google Scholar 

  • John EM, Miron A, Gong G et al (2007) Prevalence of Pathogenic BRCA1 Mutation Carriers in 5 US Racial/Ethnic Groups. JAMA 298:2869–2876

    CAS  PubMed  Google Scholar 

  • Kauff ND, Satagopan JM, Robson ME et al (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615

    PubMed  Google Scholar 

  • Kauff ND (2008) Is It time to stratify for BRCA mutation status in therapeutic trials in ovarian cancer?. J Clin Oncol 26:9–10

    PubMed  Google Scholar 

  • Kennedy RD, Quinn JE, Mullan PB, Johnston PG, Harkin DP (2004) The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 96:1659–1668

    CAS  PubMed  Google Scholar 

  • King MC, Wieand S, Hale K et al (2001) Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 286:2251–2256

    CAS  PubMed  Google Scholar 

  • Kinzler KW, Vogelstein B (1997) Cancer-susceptibility genes. Gatekeepers and caretakers. Nature 386(761):763.

    Google Scholar 

  • Kote-Jarai Z, Powles TJ, Mitchell G et al (2007) BRCA1/BRCA2 mutation status and analysis of cancer family history in participants of the Royal Marsden Hospital tamoxifen chemoprevention trial. Cancer Lett 247:259–265

    CAS  PubMed  Google Scholar 

  • Kotsopoulos J, Lubinski J, Lynch HT et al (2007) Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Br Cancer Res Treat 105:221–228

    Google Scholar 

  • Kotsopoulos J, Lubinski J, Lynch HT et al (2005) Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Control 16:667–674

    PubMed  Google Scholar 

  • Kotsopoulos J, Olopado OI, Ghadirian P et al (2005) Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Br Cancer Res 7:R833–R843

    CAS  Google Scholar 

  • Kriege M, Seynaeve C, Meijers-Heijboer H et al (2008) Distant disease-free interval, site of first relapse and post-relapse survival in B. Br Cancer Res Treat 111:303–311

    Google Scholar 

  • Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A (2001) Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst 93:1215–1223

    CAS  PubMed  Google Scholar 

  • Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238

    CAS  PubMed  Google Scholar 

  • Malone KE, Daling JR, Doody DR et al (2006) Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years. Cancer Res 66:8297–8308

    CAS  PubMed  Google Scholar 

  • Malone KE, Daling JR, Neal C et al (2000) Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 88:1393–1402

    CAS  PubMed  Google Scholar 

  • Malone KE, Doody DR, Hsu L, Ostrander EA (2007) How Reliable Are BRCA1/2 Mutation Estimates?. Cancer Res 67:5057–5058

    CAS  Google Scholar 

  • Malone KE, Daling JR, Doody D, O‘Brien C, Ostrander EA, Porter P (2006) Family history of breast cancer and BRCA1/BRCA2 in relation to tumor characteristics and mortality in a population-based study of young women with invasive breast cancer. New developments in the epidemiology of cancer prognosis: traditional and molecular predictors of treatment response and survival. 1–12–2006.

    Google Scholar 

  • Martin AM, Blackwood MA, Antin-Ozerkis D et al (2001) Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. J Clin Oncol 19:2247–2253

    CAS  PubMed  Google Scholar 

  • McGuire V, John EM, Felberg A et al (2006) No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years. Cancer Epidemiol Biomarkers Prev 15:1565–1567

    CAS  PubMed  Google Scholar 

  • Meijers-Heijboer H, van den OA, Klijn J et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55–59

    CAS  PubMed  Google Scholar 

  • Meijers-Heijboer H, Wijnen J, Vasen H et al (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308–1314

    CAS  PubMed  Google Scholar 

  • Metcalfe K, Lynch HT, Ghadirian P et al (2004) Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22:2328–2335

    CAS  PubMed  Google Scholar 

  • Metcalfe KA, Foulkes WD, Kim-Sing C et al (2008) Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation. Clin Genet 73:474–479

    CAS  PubMed  Google Scholar 

  • Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71

    CAS  PubMed  Google Scholar 

  • Monteiro AN (2003) BRCA1: the enigma of tissue-specific tumor development. Trends Genet 19:312–315

    CAS  PubMed  Google Scholar 

  • Mote PA, Leary JA, Avery KA et al (2004) Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A. Genes Chromosomes Cancer 39:236–248

    CAS  PubMed  Google Scholar 

  • Murray PP, Stadel BV, Schlesselman JJ (1989) Oral contraceptive use in women with a family history of breast cancer. Obstet Gynecol 73:977–983

    CAS  PubMed  Google Scholar 

  • Narod SA, Brunet JS, Ghadirian P et al (2000) Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356:1876–1881

    CAS  PubMed  Google Scholar 

  • Narod SA, Dube MP, Klijn J et al (2002) Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 94:1773–1779

    CAS  PubMed  Google Scholar 

  • Narod SA (2006) Modifiers of risk of hereditary breast cancer. Oncogene 25:5832–5836

    CAS  PubMed  Google Scholar 

  • National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology – Breast Cancer. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/PDF/breast.pdf V.2.2008. 2008. www.nccn.org. 3–5–0008.

  • Nelen MR, Padberg GW, Peeters EA et al (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13:114–116

    CAS  PubMed  Google Scholar 

  • Neuhausen S, Gilewski T, Norton L et al (1996) Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 13:126–128

    CAS  PubMed  Google Scholar 

  • Newman B, Austin MA, Lee M, King MC (1988) Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci U S A 85:3044–3048

    CAS  PubMed  Google Scholar 

  • Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279:915–921

    CAS  PubMed  Google Scholar 

  • Nkondjock A, Robidoux A, Paredes Y, Narod SA, Ghadirian P (2006) Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians. Br Cancer Res Treat 98:285–294

    CAS  Google Scholar 

  • Nusbaum R, Isaacs C (2007) Management updates for women with a BRCA1 or BRCA2 mutation. Mol Diagn Ther 11:133–144

    CAS  PubMed  Google Scholar 

  • Oldenburg RA, Kroeze-Jansema K, Kraan J et al (2003) The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 63:8153–8157

    CAS  PubMed  Google Scholar 

  • Oldenburg RA, Meijers-Heijboer H, Cornelisse CJ, Devilee P (2007) Genetic susceptibility for breast cancer: how many more genes to be found?. Crit Rev Oncol Hematol 63:125–149

    CAS  PubMed  Google Scholar 

  • Olsen JH, Hahnemann JM, Borresen-Dale AL et al (2001) Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 93:121–127

    CAS  PubMed  Google Scholar 

  • Ottman R, Pike MC, King M, Casagrande JT, Henderson BE (1986) Familial breast cancer in a population-based series. Am J Epidemiol 123:15–21

    CAS  PubMed  Google Scholar 

  • Ozcelik H, Knight JA, Glendon G et al (2003) Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies. J Med Genet 40:e91

    CAS  PubMed  Google Scholar 

  • Peto J, Collins N, Barfoot R et al (1999) Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943–949

    CAS  PubMed  Google Scholar 

  • Pharoah PD, Guilford P, Caldas C (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348–1353

    CAS  PubMed  Google Scholar 

  • Pharoah PDP, Day NE, Duffy S, Easton DF, Ponder BAJ (1997) Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 71:800–809

    CAS  PubMed  Google Scholar 

  • Pierce LJ, Levin AM, Rebbeck TR et al (2006) Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 24:2437–2443

    PubMed  Google Scholar 

  • Pierce LJ, Strawderman M, Narod SA et al (2000) Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 18:3360–3369

    CAS  PubMed  Google Scholar 

  • Pippard EC, Hall AJ, Barker DJ, Bridges BA (1988) Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 48:2929–2932

    CAS  PubMed  Google Scholar 

  • Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165–167

    CAS  PubMed  Google Scholar 

  • Rebbeck TR, Friebel T, Wagner T et al (2005) Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 23:7804–7810

    CAS  PubMed  Google Scholar 

  • Rebbeck TR, Lynch HT, Neuhausen SL et al (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346:1616–1622

    PubMed  Google Scholar 

  • Reding KW, Malone KE, Langholz B, Begg CB, Bernstein L, Haile RW, Capinau M, Reiner A, Liang X, Lynch CF, Concannon P, Teraoka S, Bertelsen L, Borg A, Bernstein J, The WECARE Study Group (2008) Adjuvant systemic therapy for breast cancer and the risk of contralateral breast cancer in BRCA1 and BRCA 2 mutation carriers.

    Google Scholar 

  • Renwick A, Thompson D, Seal S et al (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873–875

    CAS  PubMed  Google Scholar 

  • Risch HA, McLaughlin JR, Cole DE et al (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A Kin-Cohort study in Ontario, Canada. J Natl Cancer Inst 98:1694–1706

    CAS  PubMed  Google Scholar 

  • Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185–187

    CAS  PubMed  Google Scholar 

  • Robson M, Svahn T, McCormick B et al (2005) Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series. Cancer 103:44–51

    PubMed  Google Scholar 

  • Robson ME (2007) Treatment of hereditary breast cancer. Semin Oncol 34:384–391

    CAS  PubMed  Google Scholar 

  • Roseman DL, Straus AK, Shorey W (1990) A positive family history of breast cancer Does its effect diminish with age?. Arch Intern Med 150:191–194

    CAS  PubMed  Google Scholar 

  • Rosenblatt KA, Thomas DB, McTiernan A et al (1991) Breast cancer in men: Aspects of familial aggregation. J Natl Cancer Inst 83:849–854

    CAS  PubMed  Google Scholar 

  • Russo J, Lynch H, Russo IH (2001) Mammary gland architecture as a determining factor in the susceptibility of the human breast to cancer. Br J 7:278–291

    CAS  Google Scholar 

  • Sakamoto G, Sugano H, Kasumi F (1978) Bilateral breast cancer and familial aggregations. Prev Med 7:225–229

    CAS  PubMed  Google Scholar 

  • Satagopan JM, Offit K, Foulkes W et al (2001) The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 10:467–473

    CAS  PubMed  Google Scholar 

  • Sattin RW, Rubin GL, Webster LA et al (1985) Family history and the risk of breast cancer. JAMA 263:1908–1913

    Google Scholar 

  • Schildkraut JM, Risch N, Thompson WD (1989) Evaluating genetic association among ovarian, breast, and endometrial cancer: Evidence for a breast/ovarian cancer relationship. Am J Hum Genet 45:S21–S29

    Google Scholar 

  • Schwartz AG, King M, Belle SH, Satariano WA, Swanson GM (1985) Risk of breast cancer to relatives of young breast cancer patients. J Natl Cancer Inst 75:665–668

    CAS  PubMed  Google Scholar 

  • Scully R, Chen J, Plug A et al (1997) Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265–275

    CAS  PubMed  Google Scholar 

  • Sellers TA, Kushi LH, Potter JD et al (1992) Effect of family history, body-fat distribution, and reproductive factors on the risk of postmenopausal breast cancer. N Engl J Med 326:1323–1329

    CAS  PubMed  Google Scholar 

  • Shattuck-Eidens D, Oliphant A, McClure M et al (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278:1242–1250

    CAS  PubMed  Google Scholar 

  • Shih HA, Couch FJ, Nathanson KL et al (2002) BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol 20:994–999

    CAS  PubMed  Google Scholar 

  • Sidransky D, Tokino T, Helzlsouer K et al (1992) Inherited p53 gene mutations in breast cancer. Cancer Res 52:2984–2986

    CAS  PubMed  Google Scholar 

  • Simard J, Dumont M, Moisan AM et al (2007) Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet 44:107–121

    CAS  PubMed  Google Scholar 

  • Stratton MR, Rahman N (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40:17–22

    CAS  PubMed  Google Scholar 

  • Struewing JP, Abeliovich D, Peretz T et al (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198–200

    CAS  PubMed  Google Scholar 

  • Struewing JP, Hartge P, Wacholder S et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401–1408

    CAS  PubMed  Google Scholar 

  • Suriano G, Yew S, Ferreira P et al (2005) Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 11:5401–5409

    CAS  PubMed  Google Scholar 

  • Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831–1836

    CAS  PubMed  Google Scholar 

  • Tamimi RM, Hankinson SE, Spiegelman D, Kraft P, Colditz GA, Hunter DJ (2004) Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study. Br Cancer Res 6:R416–R422

    CAS  Google Scholar 

  • Tavtigian SV, Samollow PB (2006) de SD, Thomas A. An analysis of unclassified missense substitutions in human BRCA1. Fam Cancer 5:77–88

    CAS  PubMed  Google Scholar 

  • Thompson WD, Schildkraut JM (1991) Family history of gynaecological cancers: Relationships to the incidence of breast cancer prior to age 55. Int J Epidemiol 20:595–602

    CAS  PubMed  Google Scholar 

  • Tulinius H, Egilsson V, Olafsdottir GH, Sigvaldason H (1992) Risk of prostate, ovarian, and endometrial cancer among relatives of women with breast cancer. Br Med J 305:855–857

    CAS  Google Scholar 

  • UK National Case-Control Study Group (1990) Oral contraceptive use and breast cancer risk in young women: subgroup analyses. UK National Case-Control Study Group. Lancet 335:1507–1509

    Google Scholar 

  • Ursin G, Henderson BE, Haile RW et al (1997) Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women?. Cancer Res 57:3678–3681

    CAS  PubMed  Google Scholar 

  • Vahteristo P, Bartkova J, Eerola H et al (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432–438

    CAS  PubMed  Google Scholar 

  • Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108:171–182

    CAS  PubMed  Google Scholar 

  • Weinberg RA (2007) The biology of cancer. GarlandScience, Taylor & Francis Group, LLC, New York

    Google Scholar 

  • Whittemore AS, Gong G, John EM et al (2004) Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev 13:2078–2083

    CAS  PubMed  Google Scholar 

  • Williams WR, Anderson DE (1984) Genetic epidemiology of breast cancer: segregation analysis of 200 Danish pedigrees. Genet Epidemiol 1:7–20

    CAS  PubMed  Google Scholar 

  • Wohlfahrt J, Olsen JH, Melby M (2002) Breast cancer risk after childbirth in young women with family history (Denmark). Cancer Causes Control 13:169–174

    PubMed  Google Scholar 

  • Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene – BRCA2. Nature 378:789–792

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Kathleen E. Malone .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Malone, K.E., Reding, K.W. (2010). Inherited Predisposition: Familial Aggregation and High Risk Genes. In: Li, C. (eds) Breast Cancer Epidemiology. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-0685-4_13

Download citation

Publish with us

Policies and ethics