Skip to main content
SpringerLink
Log in

Hereditary Risk for Cancer

  • Chapter
  • First Online:
Fundamentals of Cancer Prevention

  • 684 Accesses

Abstract

Cancer prevention consists of understanding cancer incidence in populations, identifying appropriate risk factors for specific cancers, stratifying individuals according to these risk factors, and applying effective interventions to individuals (and sometimes populations) according to their risk status. Evaluation of hereditary risk of cancer is a vital component of risk stratification. Appropriate assessment of hereditary genetic risk can lead to significant changes in the clinical management of individuals who are found to have a hereditary cancer syndrome; conversely, it can identify individuals who are not at elevated risk despite having a strong familial history of cancer. Through cancer risk evaluation, with or without genetic testing for hereditary cancer syndromes, individuals with inherited genetic changes associated with increased predisposition of cancer can be identified prior to the development or diagnosis of cancer. Determining that an individual has a strong inherited predisposition to cancer provides an opportunity to intervene with prevention and screening strategies documented to reduce cancer incidence, morbidity, or mortality.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
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

  • Aarnio M, Sankila R et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218

    Article  CAS  PubMed  Google Scholar 

  • ACOG (1997) ACOG committee opinion. Breast—ovarian cancer screening. Number 176, October 1996. Committee on Genetics. The American College of Obstetricians and Gynecologists. Int J Gynaecol Obstet 56(1):82–83

    Article  Google Scholar 

  • Ad Hoc Committee on Genetic Counseling (1975) Genetic counseling. Am J Hum Genet 27(2):240–242

    Google Scholar 

  • Ajani JA et al (2017) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Gastric Cancer V.5.2017. © National Comprehensive Cancer Network, Inc. 2017. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org.

  • Amos C, Frazier M, McGarrity T (2007) Peutz-Jeghers syndrome. In: GeneReviews. www.genetests.org, University of Washington. Accessed 27 Mar 2008

  • Antoniou AC, Casadei S et al (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371(6):497–506

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • ASCO (2003) American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21(12):2397–2406

    Article  Google Scholar 

  • ASHG (1994) Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet 55(5):i–iv

    Google Scholar 

  • Baker LH (1982) Breast Cancer Detection Demonstration Project: five-year summary report. CA Cancer J Clin 32(4):194–225

    Article  CAS  PubMed  Google Scholar 

  • Bane AL, Beck JC, Bleiweiss I et al (2007) BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 31:121–128

    Article  PubMed  Google Scholar 

  • Barnes-Kedar IM, Plon SE (2002) Counseling the at risk patient in the BRCA1 and BRCA2 era. Obstet Gynecol Clin N Am 29(2):341–366. vii

    Article  Google Scholar 

  • Berg WA, Bandos AI et al (2015) Ultrasound as the primary screening test for breast cancer: analysis from ACRIN 6666. J Natl Cancer Inst 108(4):djv367

    Article  PubMed  PubMed Central  Google Scholar 

  • Blanco A, de la Hoya M et al (2013) Analysis of PALB2 in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS One 8(7):e67538

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Boardman LA, Thibodeau SN et al (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128(11):896–899

    Article  CAS  PubMed  Google Scholar 

  • Bonadona V et al (2011) Cancer risks associated with germline mutations in MLH1, MSh2, and MSH6 genes in Lynch syndrome. J Am Med Assoc 305(22):2304–2310

    Article  CAS  Google Scholar 

  • Brooks-Wilson AR et al (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41:508–517

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Burke W, Daly M et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277(12):997–1003

    Article  CAS  PubMed  Google Scholar 

  • Burn J, Gerdes AM et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomized clinical trial. Lancet 378:2081–2208

    Article  PubMed  PubMed Central  Google Scholar 

  • Buys SS, Sandbach JF et al (2017) A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 123(10):1721–1730

    Article  CAS  PubMed  Google Scholar 

  • Canto MI, Harinck F et al (2013) International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62(3):339–347

    Article  PubMed  Google Scholar 

  • Casadei S, Norquist BM et al (2011) Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 71(6):2222–2229

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chompret A, Abel A et al (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43–47

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Claus EB, Risch N et al (1994) Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73(3):643–651

    Article  CAS  PubMed  Google Scholar 

  • Couch FJ, Weber BL et al (1996) Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat 8(1):8–18

    Article  CAS  PubMed  Google Scholar 

  • Cybulski C, Wokolorczyk D et al (2011) Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 29(28):3747–3752

    Article  CAS  PubMed  Google Scholar 

  • Daly MB et al (2018) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast and Ovarian V.1.2018. © National Comprehensive Cancer Network, Inc. 2018. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org.

  • Desmond A, Kurian AW et al (2015) Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 1(7):943–951

    Article  PubMed  Google Scholar 

  • Domchek SM, Eisen A et al (2003) Application of breast cancer risk prediction models in clinical practice. J Clin Oncol 21(4):593–601

    Article  PubMed  Google Scholar 

  • Dunlop MG, Farrington SM et al (1997) Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6(1):105–110

    Article  CAS  PubMed  Google Scholar 

  • EGAPP Working Group (2009) Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 11:35–41

    Article  Google Scholar 

  • Eggington JM, Bowles KR et al (2014) A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet 86(3):229–237

    Article  CAS  PubMed  Google Scholar 

  • Eisen A, Lubinski J et al (2008) Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 100:1361–1367

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Eng C (2000) Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37(11):828–830

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Evans DG, Susnerwala I et al (2010) Risk of breast cancer in male BRCA2 carriers. J Med Genet 47(10):710–711

    Article  CAS  PubMed  Google Scholar 

  • Fackenthal JD, Marsh DJ et al (2001) Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 38(3):159–164

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61(5):759–767

    Article  CAS  PubMed  Google Scholar 

  • Fisher B et al (2005) Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study. J Natl Cancer Inst 97:1652–1662

    Article  CAS  PubMed  Google Scholar 

  • Ford D, Easton DF et al (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343(8899):692–695

    Article  CAS  PubMed  Google Scholar 

  • Frank TS, Manley SA et al (1998) Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16(7):2417–2425

    Article  CAS  PubMed  Google Scholar 

  • Franks LM, Teich NM (1997) Introduction to the cellular and molecular biology of cancer. Oxford University Press, London

    Google Scholar 

  • Geller G, Botkin JR et al (1997) Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent. JAMA 277(18):1467–1474

    Article  CAS  PubMed  Google Scholar 

  • Giardiello FM, Brensinger JD et al (1997) The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 336(12):823–827

    Article  CAS  PubMed  Google Scholar 

  • Gonzalez-Angulo AM, Timms KM et al (2011) Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res 17(5):1082–1089

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Goss PE, Ingle JN et al (2011) Exemestane for breast cancer prevention in postmenopausal women. N Engl J Med 364(25):2381–2391

    Article  CAS  PubMed  Google Scholar 

  • Hall JM, Lee MK et al (1990) Linkage of early-onset familial breast cancer to chromosome-17q21. Science 250(4988):1684–1689

    Article  CAS  PubMed  Google Scholar 

  • Hall MJ, Forman AD et al (2014) Gene panel testing for inherited cancer risk. J Natl Compr Cancer Netw 12(9):1339–1346

    Article  Google Scholar 

  • Hampel H, Peltomaki P (2000) Hereditary colorectal cancer: risk assessment and management. Clin Genet 58(2):89–97

    Article  CAS  PubMed  Google Scholar 

  • Hampel H, Bennett RL et al (2015) A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17(1):70–87

    Article  PubMed  Google Scholar 

  • Hartmann LC, Sellers TA et al (1999) Clinical options for women at high risk for breast cancer. Surg Clin North Am 79(5):1189–1206

    Article  CAS  PubMed  Google Scholar 

  • Heemskerk-Gerritsen BA et al (2015) Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer Inst 107(5):djv033

    Article  PubMed  CAS  Google Scholar 

  • Heijnsdijk EA, Warner E et al (2012) Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening—MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomark Prev 21(9):1458–1468

    Article  Google Scholar 

  • Hemminki A (1999) The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 55(5):735–750

    Article  CAS  PubMed  Google Scholar 

  • Hemminki A, Markie D et al (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391(6663):184–187

    Article  CAS  PubMed  Google Scholar 

  • Herrmann LJ, Heinze B et al (2012) TP53 germline mutations in adult patients with adrenocortical carcinoma. J Clin Endocrinol Metab 97(3):E476–E485

    Article  CAS  PubMed  Google Scholar 

  • Howlett NG, Taniguchi T et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297(5581):606–609

    Article  CAS  PubMed  Google Scholar 

  • Izatt L, Greenman J et al (1999) Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer 26(4):286–294

    Article  CAS  PubMed  Google Scholar 

  • Jenkins MA et al (2006) Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population based case–family study. Cancer Epidemiol Biomark Prev 15(2):312–314

    Article  CAS  Google Scholar 

  • Kapoor NS, Curcio LD et al (2015) Multigene panel testing detects equal rates of pathogenic BRCA 1/2 mutations and has a higher diagnostic yield compared to limited BRCA 1/2 analysis alone in patients at risk for hereditary breast cancer. Ann Surg Oncol 22(10):3282–3288

    Article  PubMed  Google Scholar 

  • Kaufman B et al (2014) Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33:244–250

    Article  PubMed  PubMed Central  Google Scholar 

  • Kempers MJ, Kuiper RP et al (2011) Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 12:49–55

    Article  PubMed  Google Scholar 

  • King JE, Dozois RR et al (2000) Care of patients and their families with familial adenomatous polyposis. Mayo Clin Proc 75(1):57–67

    Article  CAS  PubMed  Google Scholar 

  • King MC 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

    Article  CAS  PubMed  Google Scholar 

  • King MC, Marks JH et al (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302(5645):643–646

    Article  CAS  PubMed  Google Scholar 

  • Klitzman R, Chung W et al (2013) Attitudes and practices among internists concerning genetic testing. J Genet Couns 22(1):90–100

    Article  PubMed  Google Scholar 

  • Knudson AG (1971) Mutation and cancer—statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68(4):820–823

    Article  PubMed  PubMed Central  Google Scholar 

  • Kriege M, Brekelmans CT et al (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351(5):427–437

    Article  CAS  PubMed  Google Scholar 

  • LaDuca H, Stuenkel AJ et al (2014) Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med 16(11):830–837

    Article  PubMed  PubMed Central  Google Scholar 

  • Le DT et al (2015) PD-1 blockade I tumors with mismatch repair deficiency. N Engl J Med 372:2509–2520

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Li FP, Fraumeni JF Jr et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362

    CAS  PubMed  Google Scholar 

  • Libe R, Bertherat J (2005) Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 153(4):477–487

    Article  CAS  PubMed  Google Scholar 

  • Loveday CM et al (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43(9):879–882

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Loveday C et al (2012) Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 44(5):475–476

    Article  CAS  PubMed  Google Scholar 

  • Lynch HT, Lynch JF (1998) Genetics of colonic cancer. Digestion 59(5):481–492

    Article  CAS  PubMed  Google Scholar 

  • Lynch HT, Lynch JF (2000) Hereditary nonpolyposis colorectal cancer. Semin Surg Oncol 18(4):305–313

    Article  CAS  PubMed  Google Scholar 

  • Madalinska JBM et al (2007) Predictors of prophylactic bilateral salpingo-oophorectomy compared with gynecologic screening use in BRCA1/2 mutation carriers. J Clin Oncol 25:301–307

    Article  PubMed  Google Scholar 

  • Malander S, Ridderheim M et al (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer 40(3):422–428

    Article  CAS  PubMed  Google Scholar 

  • Marabelli M et al (2016) Penetrance of ATM gene mutations in breast cancer: A meta-analysis of different measures of risk. Genet Epidemiol 40(5):425–431

    Article  PubMed  PubMed Central  Google Scholar 

  • McCuaig JM et al (2012) Routine TP53 testing for breast cancer under age 30: Ready for prime time? Familial Cancer 11(4):607–613

    Article  CAS  PubMed  Google Scholar 

  • Meijers-Heijboer H 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

    Article  CAS  PubMed  Google Scholar 

  • Miki Y, Swensen J et al (1994) Isolation of BRCA1, the 17q-linked breast and ovarian cancer susceptibility gene. Science 266:61–71

    Article  Google Scholar 

  • Moller P et al (2017) Cancer risk and survival in path MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 66(9):1657–1664

    Article  PubMed  CAS  Google Scholar 

  • Narod SA, Risch H et al (1998) Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med 339(7):424–428

    Article  CAS  PubMed  Google Scholar 

  • NCI (1998) Breast cancer risk assessment tool for health care providers. N. C. I. Office of Cancer Communication, Bethesda

    Google Scholar 

  • NCI (2007) Breast cancer risk assessment tool. http://bcra.nci.nih.gov/brc/. Accessed 21 Feb 2018

  • Nelen MR, Padberg GW et al (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13(1):114–116

    Article  CAS  PubMed  Google Scholar 

  • Nelson HD, Huffman LH, Fu R, Harris EL, U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence for review for the US Preventive Services Task Force. Ann Intern Med 143:362–379

    Article  CAS  PubMed  Google Scholar 

  • Nussbaum RL, McInnes RR, Willard HF (2001) Thompson and Thompson genetics in medicine. W.B. Saunders Company, Philadelphia

    Google Scholar 

  • Offit K (1997) Clinical cancer genetics: risk counseling and management. Wiley-Liss, New York

    Google Scholar 

  • Parmigiani G, Wang W (2004) BRCAPRO. B. Lab, http://astor.som.jhmi.edu/BayesMendel/brcapro.html. Accessed 10 Nov 2004

  • Parmigiani G, Berry D et al (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62(1):145–158

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Peelen T, vanVliet M et al (1997) A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 60(5):1041–1049

    CAS  PubMed  PubMed Central  Google Scholar 

  • Peelen T, de Leeuw W et al (2000) 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 88(5):778–782

    Article  CAS  PubMed  Google Scholar 

  • Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113(4):1146–1158

    Article  CAS  PubMed  Google Scholar 

  • Peters JA, Stopfer JE (1996) Role of the genetic counselor in familial cancer. Oncology (Williston Park) 10(2):159–166

    CAS  Google Scholar 

  • Pilarski R et al (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria. J Natl Cancer Inst 105(21):1607–1616

    Article  CAS  PubMed  Google Scholar 

  • Provenzale D, et al (2017) Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2018. © National Comprehensive Cancer Network, Inc. 2018. All rights reserved. Accessed 4 Mar 2018. To view the most recent and complete version of the guideline, go online to NCCN.org

  • Rafnar T et al (2011) Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 43(11):1104–1107

    Article  CAS  PubMed  Google Scholar 

  • Raymond VM et al (2012) Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. J Clin Endocrinol Metab 98(1):E119–E125

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Rebbeck TR, Friebel T et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22(6):1055–1062

    Article  PubMed  Google Scholar 

  • Rebbeck TR, Friebel T et al (2005) Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 carriers: the PROSE Study Group. J Clin Oncol 23(31):7804–7810

    Article  CAS  PubMed  Google Scholar 

  • Reid S et al (2007) Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39(2):162–164

    Article  CAS  PubMed  Google Scholar 

  • Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424

    Article  PubMed  PubMed Central  Google Scholar 

  • Risch HA, McLaughlin JR et al (2001) Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68(3):700–710

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Roberts NJ et al (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41–46

    Article  CAS  PubMed  Google Scholar 

  • Robson ME et al (2015) American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 33:3660–3667

    Article  CAS  PubMed  Google Scholar 

  • Rumilla K, Schowalter KV et al (2011) Frequency of deletions of EPCAM (TACSTD1) in MSH2 associated Lynch syndrome. J Mol Diagn 13:93–99

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Saslow D et al (2007) American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57(2):75–89

    Article  PubMed  Google Scholar 

  • Savitsky K, Sfez S et al (1995) The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 4(11):2025–2032

    Article  CAS  PubMed  Google Scholar 

  • Schmeler KM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354(3):261–269

    Article  CAS  PubMed  Google Scholar 

  • Schmidt MK et al (2007) Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 25:64–69

    Article  CAS  PubMed  Google Scholar 

  • Schneider K (2001) Counseling about cancer: strategies for genetic counseling. Wiley-Liss, New York

    Google Scholar 

  • Schrag D, Kuntz KM et al (1997) Decision analysis—effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 336(20):1465–1471

    Article  CAS  PubMed  Google Scholar 

  • Senter L et al (2008) The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135(2):419–428

    Article  CAS  PubMed  Google Scholar 

  • Shattuck-Eidens D, Oliphant A et al (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278(15):1242–1250

    Article  CAS  PubMed  Google Scholar 

  • Solomon C, Burt RW (2004) Familial adenomatous polyposis. In: GeneReviews. www.genetests.org, University of Washington. Accessed 2 Apr 2004

  • Struewing JP, Hartge P et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336(20):1401–1408

    Article  CAS  PubMed  Google Scholar 

  • Susswein LR et al (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18(8):823–832

    Article  CAS  PubMed  Google Scholar 

  • Swift M, Morrell D et al (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325(26):1831–1836

    Article  CAS  PubMed  Google Scholar 

  • Tabori U et al (2017) Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res 23(1):e32–e37

    Article  PubMed  Google Scholar 

  • Tan MH et al (2012) Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18(2):400–407

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • The Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91(15):1310–1316

    Article  Google Scholar 

  • Thull DL, Vogel VG (2004) Recognition and management of hereditary breast cancer syndromes. Oncologist 9(1):13–24

    Article  PubMed  Google Scholar 

  • Tinat J, Bouregard G et al (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27:e108–e109

    Article  PubMed  Google Scholar 

  • Tirkkonen M, Johannsson O et al (1997) Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res 57(7):1222–1227

    CAS  PubMed  Google Scholar 

  • Tonin P, Weber B et al (1996) Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 2(11):1179–1183

    Article  CAS  PubMed  Google Scholar 

  • Tung N et al (2016) Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34913:1460–1468

    Article  CAS  Google Scholar 

  • Turner NC, Reis-Filho JS (2006) Basal-like breast cancer and the BRCA1 phenotype. Oncogene 25:5846–5853

    Article  CAS  PubMed  Google Scholar 

  • Tyrer J, Duffy SW, Cuzick J (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23(7):1111–1130

    Article  PubMed  Google Scholar 

  • Umar A, Boland CR et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268

    Article  CAS  PubMed  Google Scholar 

  • Varley JM et al (1999) Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65(4):995–1006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vasen HF, van Ballegooijen M et al (1998) A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 82(9):1632–1637

    Article  CAS  PubMed  Google Scholar 

  • Vogel VG, Costantino JP et al (2006) Effects of tamoxifen vs. raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA 295(23):2727–2741

    Article  CAS  PubMed  Google Scholar 

  • Walsh T et al (2006) Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379–1388

    Article  CAS  PubMed  Google Scholar 

  • Walsh T et al (2011) Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 108(44):18032–18037

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Warner E, Plewes DB et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292(11):1317–1325

    Article  CAS  PubMed  Google Scholar 

  • Watanabe T, Wu TT et al (2001) Molecular predictors of survival after adjuvant chemotherapy for colon cancer. N Engl J Med 344(16):1196–1206

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Weber T (1996) Clinical surveillance recommendations adopted for HNPCC. Lancet 348:465

    Article  Google Scholar 

  • Weischer M, Bojesen SE, Tybjaerg-Hansen A, Axelsson CK, Nordestgaard BG (2007) Increased risk of breast cancer associated with CHEK2*1100delC germline mutation. J Clin Oncol 25:64–69

    Google Scholar 

  • Wijnen JT, Vasen HF et al (1998) Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339(8):511–518

    Article  CAS  PubMed  Google Scholar 

  • Wimmer K, Kratz CP (2010) Constitutional mismatch repair-deficiency syndrome. Haematologica 95(5):699–701

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Win AK et al (2014) Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 146:2256–2262

    Article  CAS  Google Scholar 

  • Wooster R, Bignell G et al (1995) Identification of the breast-cancer susceptibility gene BRCA2. Nature 378(6559):789–792

    Article  CAS  PubMed  Google Scholar 

  • Xia B et al (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22(6):719–729

    Article  CAS  PubMed  Google Scholar 

  • Yang S et al (2017) Sources of discordance among germ-line variant classifications in ClinVar. Genet Med 19(10):1118–1126

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

The authors are indebted to Katherine S. Hunt, CGC, and Jessica Ray, CGC, for their work on previous versions of this chapter.

Author information

Authors and Affiliations

  1. Division of Human Genetics, Department of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA

    Kate Shane-Carson & Joanne M. Jeter

  2. Division of Medical Oncology, Department of Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA

    Joanne M. Jeter

Authors
  1. Kate Shane-Carson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Joanne M. Jeter
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Joanne M. Jeter .

Editor information

Editors and Affiliations

  1. University of Arizona Cancer Center, Tucson, AZ, USA

    David S. Alberts

  2. Department of Obstetrics and Gynecology, Indiana University Schools of Medicine and Public Health, Indianapolis, IN, USA

    Lisa M. Hess

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Shane-Carson, K., Jeter, J.M. (2019). Hereditary Risk for Cancer. In: Alberts, D., Hess, L. (eds) Fundamentals of Cancer Prevention. Springer, Cham. https://doi.org/10.1007/978-3-030-15935-1_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-15935-1_6

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-15934-4

  • Online ISBN: 978-3-030-15935-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation