Tải bản đầy đủ - 0 (trang)
11 Cancer Worry: The Pedigree as a Psychosocial Tool

11 Cancer Worry: The Pedigree as a Psychosocial Tool

Tải bản đầy đủ - 0trang



such as mammography reliably identify cancer in relatives? A person who is undergoing cancer risk assessment needs to be able to tell his or her family story (Schneider,

2002). Taking time to listen to worries about developing cancer can help the clinician

understand the patient’s concerns about the effectiveness of cancer screening and


The clinician can also be alerted to significant correlations between the patient’s

feelings and actions and his or her family history. For example, the patient may

seek aggressive prevention strategies such as prophylactic mastectomy or colectomy

because a parent or sibling did not survive their cancer. The patient may be more

anxious about participating in cancer screening as he or she approaches the age at

which a relative developed cancer, or even become more complacent about cancer

screening because he or she has passed the age at which the relative developed

cancer and thus has “escaped” the disease. A woman may fear becoming pregnant

because a relative was diagnosed with cancer in her pregnancy. If multiple relatives

have developed cancer, the patient may feel that cancer is the norm rather than the

exception (Patenaude, 2005).

Almost everyone who has a relative with cancer worries that the cancer in that

person may be inherited, placing them at risk for cancer as well. Overestimation of

cancer risk is common in both people who have a hereditary risk and those for whom

there is little evidence that there is high risk for cancer (Patenaude, 2005). A pedigree

can be used as a tool to educate the patient about cancer risks, as well as relieve

anxieties about risk for cancer in the absence of significant family history factors.




The development of models that factor family history into the likelihood of developing

cancer or the likelihood of having a positive test for a cancer genetic syndrome are

becoming readily available (NCI, 2009). Most of the models factor in the age at cancer

diagnosis of the consultand and in closely related relatives. The models predicting

breast cancer risk or the likelihood of having a BRCA1 or BRCA2 mutation are

more advanced as compared to other cancer syndromes. Each model has it flaws, but

certainly they each can be useful in a clinical setting (Barcenas et al., 2006; Jacobi

et al., 2008; Kang et al., 2006). The Claus model is useful for predicting breast cancer

risk for women with one or two first- or second-degree relatives with breast cancer

(Claus et al., 1994). This model considers the current age of the woman and the ages

at which her first- and second-degree relatives developed cancer. It does not consider

ovarian cancer, male breast cancer, or bilateral breast cancer. Figure 5.1 illustrates

how significantly a younger age at breast cancer diagnosis positively influences a

first- or second-degree relative’s likelihood of developing breast cancer (with the risks

being higher for breast cancer diagnosed before menopause). The Gail model has been

used primarily for postmenopausal women who have a limited family history of breast

cancer. This model does not factor in the age that the relatives developed breast cancer,


Figure 5.1 The empirical risk to develop breast cancer based on the age of onset of breast cancer in a mother and a maternal aunt. Note that if the

consultand’s mother and aunt develop breast cancer between the ages of 70 and 79 years, the consultand’s lifetime risk to develop breast cancer is

similar to the background risk to develop cancer by age 80. Risk figures derived from Claus et al. (1994).



only the number of first-degree relatives with breast cancer. Other personal factors

such as the age of the women, age at first live birth, ethnicity, and breast biopsies

are also factored into the model. This model can underestimate hereditary risk. The

Myriad-Frank model is derived from the family history information regarding the age

and types of cancer in the consultand and his or her first- and second-degree relatives

listed on requisition forms from persons undergoing the commercial test for BRCA1

and BRCA2 through Myriad Genetics Laboratory (www.myriadtests.com), and they

have developed a similar model in relation to persons undergoing genetic testing for

Lynch syndrome.

The National Cancer Institute website (at http://riskfactor.cancer.gov/cancer

risk prediction) is a comprehensive resource with links to summaries of many of the

cancer risk assessment models and related bibliographies. Another essential resource

is the BayesMendel Lab (2009) (http://astor.som.jhmi.edu/BayesMendel/index.html),

which includes references on cancer susceptibility and links to models for predicting who may carry a cancer susceptibility gene (all open source software). Models

such as these are likely to play a growing role in determining which persons are

the best candidates for genetic testing and for whom increased cancer surveillance

is indicated based on family history alone when the available genetic tests do not

identify all of the possible mutations. Although the models’ predicting the likelihood

of identifying a cancer susceptibility mutation or for predicting the risk for cancer

can be useful in aggregate, the models give widely varying predictions (Jacobi et al.,

2008). Therefore, an understanding of the assumptions used in creating each model

and the appropriate clinical application is essential.


The instruments of molecular genetics, in concert with a precise genetic family

history, provide clinicians with powerful investigative tools to identify individuals

with an increased risk to develop various cancers. Corroborating verbal history of

cancer with medical records is key so that accurate cancer risk assessment and a plan

for genetic testing and cancer screening and prevention can be implemented. Verbal

recall of cancer diagnoses is less likely to be accurate on distant relatives and for

female cancers and rare cancers.

For most men and women with a personal or family history of cancer, counseling about cancer screening and prevention will rely on a through assessment of the

family history rather than a genetic test result. With the ever-expanding palette of

commercially available tests that predict cancer susceptibility, medical professionals must be prepared to offer accurate counseling about the meaning of a positive,

negative, or ambiguous test result. Testing, if performed, must be interpreted in the

context of the family history. It is irresponsible to order a cancer genetic test without

taking a medical family history. Such testing, done poorly, can cause more harm

than benefit. Test results have profound reverberations for an individual’s psychological and physical health, insurability, and family and social functioning (Greely,

1997; McKinnon et al., 1997; Patenaude, 2005; Schneider, 2002; Trepanier, 2004).



Cautions Dr. Kenneth Offit (1998), former chair of the American Society of Clinical

Oncology’s Subcommittee on Genetic Testing for Cancer Susceptibility, “A genetic

test of outstanding scientific interest is of little clinical value if the clinician is unable

to interpret it, the patient afraid or unsure how to act on it, and the national health-care

system unable to provide it without penalty or discrimination.”

A dramatic example of the power of pedigree analysis is shown in Figure 5.1. A

healthy 29-year-old woman is concerned about her risk of developing breast cancer

given a history of breast cancer in her mother and maternal aunt, with no other

family history of breast or other cancers. The occurrence of postmenopausal breast

cancer in her aunt and mother does not significantly change her risk to develop breast

cancer from that of other women her age. In contrast, the consultand’s lifetime risk

to develop breast cancer (based on empirical risk figures from the Claus model)

approaches that of an autosomal dominant syndrome if her mother and aunt have

breast cancer diagnosed in their 30s (Claus et al., 1994). For many individuals with

fears about a family history of cancer, careful pedigree analysis can reassure them that

their lifetime risk to develop cancer is not significantly different from other people

their age.


Aguirre D, Nieto K, Lazos M, et al. (2006). Extragonadal germ cell tumors are often associated

with Klinefelter syndrome. Hum Path 37(4):477–480.

Ahmen M, Rahman N. (2006). ATM and breast cancer susceptibility. Oncogene 25:5906–5911.

Aitken JF, Youl P, Green A, et al. (1996). Accuracy of case-reported family history of melanoma

in Queensland, Australia. Melanoma Res 6:313–317.

Airewele G, Adatto P. Cunninham J, et al. (1998). Family history of cancer in patients with

glioma: A validation study of accuracy. J Natl Cancer Inst. 90(7):543–544.

Alam NA, Olpin S, Rowan A, et al. (2005). Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomas and renal cell cancer. J Mol Diagn 7(4):437–443.

Alter BP, Rosenberg PS, Brody LC. (2007). Clinical and molecular features associated with

biallelic mutations in FANCD1/BRCA2. J Med Genet 44:1–9.

Amos CI, Frazier ML, McGarrity TJ. (2007). Peutz-Jeghers Syndrome. May 15, 2007. Available at www.genereviews.org. Accessed January 24, 2009.

Aretz S, Koch A, Uhlhass S, et al. (2006). Should children at risk for familial adenomatous

polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatr Blood Cancer 47:811–818.

Bandipalliam P. (2005). Syndrome of early onset colon cancers, hematologic malignancies

and features of neurofibromatosis in HNPCC families with homozygous mismatch repair

gene mutations. Fam Cancer 4:323–333.

Barcenas CH, Hosain GM, Arun B, et al. (2006). Assessing BRCA carrier probabilities in

extended families. J Clin Oncol 24(3):354–360.

BayesMendel Lab (2009). BayesMendel Lab Home. Available at http://astor.

som.jhmi.edu/BayesMendel/index.html. Accessed November 22, 2009.



Bennett RL, Motulsky AG, Bittles A, et al. (2002). Genetic evaluation of consanguineous couples and their offspring: Recommendation of the National Society of Genetic Counselors.

J Genet Couns 11(2):97–119.

Berliner JL, Fay AM. (2007). Risk assessment and genetic counseling for hereditary breast

ovarian cancer: Recommendations of the National Society of Genetic Counselors. J Genet

Couns 16(3):241–260.

Bertherat J, Gimenez-Roqueplo AP. (2005). New insights in the genetics of adrenocortical

tumors, pheochromocytomas and paragangliomas. Horm Metab Res 37(6):384–390.

Birch JM, Alston RD, McNally RJ, et al. (2001). Relative frequency and morphology of cancers

in carriers of germline TP53 mutations. Oncogene 20:4621–4628.

Boedeker CC, Neumann HP, Maier W, et al., (2007). Malignant head and neck paragangliomas

in SDHB mutation carriers. Otolaryngol Head Neck Surg 137:126–129.

Bonne AC, Bodmer D, Schoenmakers EF, et al. (2004). Chromosome 3 translocations and

familial renal cell cancer. Curr Mol Med. 4:849–854.

Bravi F, Scotti L, Bosetti C, et al. (2008). Food groups and endometrial cancer risk: A case

control study from Italy. Am J Obstet Gynecol (2003; ePub ahead of print).

Brems H, Park C, Maertens O, et al. (2009). Glomus tumors in Neurofibromatosis

type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res


Breuer B, Kash KM, Rosenthal G, et al. (1993). Accuracy of case-reported family history of

melanoma in Queensland, Australia. Melanoma Res 6:313–317.

Brozek I, Ochman K, Debniak J, et al. (2008). Gynecol Oncol 108(2):433–437.

Buxbaum JD, Cai G, Chaste P, et al. (2007). Mutation screening of the PTEN gene in patients

with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr

Genet. 144(4):484–491.

Chetrit A, Hirsh-Yechezkel G, Ben-David Y, et al. (2008). Effect of BRCA1/2 mutations on

long-term survival of patients with invasive ovarian cancer: the national Israeli study of

ovarian cancer. J Clin Oncol 26(1):20–25.

Chhibber V, Dresser K, Mahalingam M. (2008). MSH6: Extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. Mod Pathol 21(2):159–164.

Chodick G, Struewing JP, Ron E, et al. (2008). Similar prevalence of founder BRCA1 and

BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence

from 261 cases in Israel, 1976–1999. Eur J Med Genet 51(2):141–147.

Claus EB, Risch N. Thompson WD. (1994). Autosomal dominant inheritance of early-onset

breast cancer. Implications for risk prediction. Cancer 73:643–651.

Cowgill SM, Muscarella P (2003). Genetics of pancreatic cancer. Am J Surg 186:279–286.

Dahia P. (2006). Evolving concepts in pheochromocytoma and paraganglioma. Curr Opinions

Onc 18:1–8.

Diaz LK, Cryris VL, Symmans WZF, Sneige N. (2007). Triple negative breast carcinoma

and the basal phenotype: From expression profiling to clinical practice. Adv Anat Pathol.


Douglas FS, O’Dair LC, Robinson M, et al. (1999). The accuracy of diagnoses as reported in

families with cancer: a retrospective study. J Med Genet. 36:309–312.

Eeles RA, Easton DF, Ponder BAJ, Eng C, eds. (2004). Genetic Predisposition to Cancer, 2nd

ed. Arnold: London.



Eng C. (2003). Invited mutation update. PTEN: One gene, many syndromes. Hum Mutat


Eng C. (2000). Will the real Cowden syndrome please stand up: Revised diagnostic criteria.

J Med Genet 37:828–830.

Evans DG, Farndon PA. (2008). Nevoid basal cell carcinoma syndrome. January 25, 2008.

Available at www.genereviews.org. Accessed November 20, 2009.

Ferolla P, Falchetti A, Filosso P. et al. (2007). Thymic neuroendocrine carcinoma (carcinoid)

in multiple endocrine neoplasia type 1 syndrome: The Italian series. J Clin Encrinol Metab.


Firth HV, Hurst JA. (2005). Oxford Desk Reference—Clinical Genetics. New York: Oxford

University Press.

Foulkes WD, Thiffault I, Gruber SB, et al. (2002). The founder mutation MSH2* 1906G C is

an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish

population. Am J Hum Genet 71(6):1395–1412.

Freeman HJ. (2008). Proton pump inhibitors and an emerging epidemic of gastric fundic gland

polyposis. World J Gastroenterol 14(9):1318–1320.

Friedman JM. (1997). Genetics and epidemiology, congenital anomalies and cancer. Am J

Hum Genet 60:469–473.

Gallinger S, Aronson M, Shayan K, et al. (2004). Gastrointestinal cancer and neurofibromatosis

type 1 features in children with germline homozygous MLH1 mutation. Gastroenterology


Gonzalez KD, Noltner KA, Buzin CH, et al. (2009). Beyond Li-Fraumeni syndrome: clinical

characteristics of families with p53 germline mutations. J Clin Oncol (2009; ePub ahead

of print).

Goon PK, Stanley MA, Ebmeyer J, et al. (2009). HPV and head and neck cancer: a descriptive

update. Head Neck Oncol 1(1): 1–36.

Gorlin RJ, Cohen MM, Levin LS. (2001). Syndromes of the Head and Neck. New York: Oxford

University Press.

Greely HT. (1997). Genetic testing for cancer susceptibility: Challenges for creators of practice

guidelines. Oncology 11:171–176.

Gronberg H, Issacs SD, Smith JR, et al., (1997). Characteristics of prostate cancer in families

potentially linked to the hereditary prostate cancer 1 (HPC1) locus. JAMA 278:1251–1255.

Hadfield KD, Newman WG, Bowers NL, et al. (2008). Molecular characterisation of SMARCB1

and NF2 in familial and sporadic schwannomatosis. J Med Genet 45(6): 332–339.

Hamataini K, Eguchi H, Ito R, et al. (2008). RET/PTC rearrangements preferentially occurred

in papillary thyroid cancer among atomic bomb survivors. Cancer Res 68(17):7176–7182.

Hampel H, Frankel W, Panescu J, et al. (2006). Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res


Hedge MR, Chong B, Blazo ME, et al. (2005). A homozygous mutation in MSH6 causes

Turcot syndrome. Clin Cancer Res 11:4689–4693.

Herman GE, Henninger N, Ratliff-Schaub K, et al. (2007). Genetic testing in autism: How

much is enough? Genet Med. 9(5):268–274.

Howe JR, Haidle JL, Lal G, et al., (2007). ENG mutations in MADH4/BMPR1A mutation

negative patients with juvenile polyposis. Clinical Genet 71:91–92.



Jacobi CE, De Bock GH, Siegerink B, van Asperen CJ. (2008). Differences and similarities in

breast cancer risk assessment models in clinical practice: which model to choose? Breast

Cancer Res Treat (2008; ePub ahead of print).

Jacoby RF, Schlack S, Sekhon G, Laxova R. (1997). Del (10)(q22.3q24.1) associated with

juvenile polyposis. Am J Med Genet 70:361–364.

Jass JR. (2008). Colorectal polyposis: From phenotype to diagnosis. Pathol Res Pract


Jass JR. (2000). Pathology of hereditary non-polyposis colorectal cancer. Ann N Y Aead Sci


Kang HH, Williams R, Leary J, et al. (2006). Evaluation of models to predict BRCA germline

mutations. Br J Cancer 95:914–920.

Kaurah P, MacMillan A, Boyd N, et al. (2007). Founder and recurrent CDH1 mutation in

families with hereditary diffuse gastric cancer. JAMA 297(21):2360–2372.

Kerber RA, Slattery ML. (1997). Comparison of self-reported and database-linked family

history of cancer data in case-control study. Am J Epidemiol 146:244–248.

Kerr B, Foulkes WD, Cade D et al. (1998). False family history in the family cancer clinic.

Euro J Surg Onc 24:275–279.

King TM, Ton L, Pack RT, et al. (2002). Accuracy of history of cancer as reported by men

with prostate cancer. Urology 59(4):546–550.

Kock M, Gaedke H, Jenkins H. (1989). Family history of ovarian cancer patients: A casecontrol study. Int J Epidemiol 18:275–279.

Kovacs ME, Papp J, Szentirmay Z, et al. (2009). Deletions removing the last exon of

TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum

Mut 30(2):197–203.

Krutilkova V, Trkova M, Fleitz J, et al. (2005). Identification of 5 new families strengthens

link between child choroid plexus carcinoma and germline TP53 mutations. Eur J Canc


Lachlan KL, Lucassen AM, Bunyan D, Temple IK. (2007). Cowden syndrome and Bannayan

Riley Ruvalcaba syndrome represent one condition with variable expression and agerelated penetrance: Results of a clinical study of PTEN mutation carriers. J Med Genet


Lakhani SR, Reis-Filno JS, Fulford L. (2005). Prediction of BRCA1 status in patients

with breast cancer using estrogen receptor and basal phenotype. Clin Canc Res 11:


Landi MT, Bauer J, Pfeiffer RM, et al. (2006). MCIR germline variants confer risk for BRAFmutant melanoma. Science online.

Lebrun C, Olschwan S, Jeannin S, et al. (2007). Turcot syndrome confirmed with molecular

analysis. Eur J Neurol 14(4):470–472.

Lefevre JH, Rodgrigue CM, Mourra N, et al., (2006). Implication of MYH in colorectal

polyposis. Ann Surg 244(6):874–880.

Levy-Lahad E, Friedman E. (2007). Cancer risks among BRCA1 and BRCA2 mutation carriers.

British J Canc 96:11–15.

Liaw D, Marsh DJ, Li J, et al. (1997). Germline mutations of the PTEN gene in

Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet 17:




Lindor M, McMaster ML, Lindor CJ, Greene MH. (2008). Concise Handbook of Familial

Cancer Susceptibility Syndromes. 2nd ed. J Natl Cancer Instit Monogr ( 38): 1–93.

Love R, Evans AM, Josten DM. (1985). The accuracy of patient reports of a family history of

cancer. J Chron Dis 38:289–293.

Lu KH, Schorge JO, Rodabaugh K, et al. (2007). Prospective determination of prevalence of

lynch syndrome in young women with endometrial cancer. J Clin Oncol 25(33):5143–5146.

Lynch ED, Ostermeyer EA, Lee MK, et al. (1997). Inherited mutations that are associated with

breast cancer, Cowden disease, and juvenile polyposis. Am J Hum Genet 61:1254–1260.

Marsh DJ, Dahia PLM, Zheng Z, et al. (1997). Germline mutations in PTEN are present in

Bannayan-Zonana syndrome. Nature Genet 16:333–334.

McKinnon WC, Baty B, Bennett RL, et al. (1997). Predisposition genetic testing for late-onset

disorders in adults: A points to consider document of the National Society of Genetic

Counselors. JAMA 278:1217–1220.

Medeiros F, Muto MG, Lee Y, et al. (2006). The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian caner syndrome. Am J Surg Pathol 3(2):230–236.

Menczer J, Chetrit A, Barda G, et al. (2003). Frequency of BRCA mutations in primary

peritoneal carcinoma in Israeli Jewish women. Gynecol Oncol 88(1):58–61.

Merg A, Howe JR. (2004). Genetic conditions associated with intestinal juvenile polyps

[Seminar]. Am J Med Genet 129C:44–55.

Mizusawa N, Uchino S, Iwata T, et al. (2006). Genetic analyses in patients with familial isolated

hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Encorinol (Oxf)


Moghaddam A, Bicknell R. (1995). The organ preference of metastasis—The journey from

the circulation to secondary site. In: Vile RG, ed., Cancer Metastasis: From Mechanisms

to Therapies. New York: J Wiley, p. 48.

Murff HJ, Spigel DR, Syngal S. (2004). Does this patient have a family history of

cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA


Muscat JE, Huncharek MS. (2008). Perineal talc use and ovarian cancer: A critical review.

Eur J Cancer Prev 17(2):139–146.

Myriad Genetic Laboratories. (2006). Mutation prevalence tables. Spring 2006. Available at

www.myriadtests.com. Accessed February 1, 2009.

National Cancer Institute. (2008). Prevention, genetics, causes. December 4, 2008. Available at

www.cancer. gov/cancertopics/prevention-genetics-causes. Accessed November 20, 2009.

National Cancer Institute (2009b). Cancer risk prediction resources. October 2, 2009. Available

at http://riskfactor. cancer.gov/cancer risk prediction. Accessed November 20, 2009.

National Comprehensive Cancer Network. (2009). NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: Breast and ovarian. May 4, 2009. Available at www.nccn.org/professionals/physician gls/PDF/genetics screening.pdf. Accessed

November 20, 2009.

National Institute for Environment and Health Services, U. S. Department of Health and Human Services. (2003). Cancer and the environment. Available at www.niehs.nih.gov/health/

scied/documents/CancerEnvironment.pdf. August 2003. Accessed February 1,


Offit K. (1998). Clinical Cancer Genetics: Risk Counseling and Management. New York:




OMIM (Online Mendelian Inheritance in Man). Available at http://www.ncbi.

nlm.nih.gov/omim. Accessed November 22, 2009.

Oricco A, Galli L, Orsi A, et al. (2008). Novel PTEN mutations in neurodevelopmental

disorders and microcephaly. Clin Genet (2008; ePub ahead of print).

Parent ME, Ghadirian P, Lacroix A, Perret C. (1997). The reliability of recollections of family

history: Implications for the medical provider. J Cancer Edu 12(2):114–120.

Patenaude AF. (2005). Genetic Testing for Cancer: Psychological Approaches for Helping

Patients and Families. Washington, DC: American Psychological Association.

Pelucchi C, Gallus S, Garavello W, et al. (2006). Cancer risk associated with alcohol and tobacco use: Focus on upper aero-digestive tract and liver. Alcohol Res Health 29(3):193–198.

Pilarski R. (2009). Cowden syndrome: A critical review of the clinical literature. J Genet

Couns 18:13–27.

Poley JW, Wagner A, Hoogmans MM, et al. (2007). Biallelic germline mutations of

mismatch-repair genes: A possible cause for multiple pediatric malignancies. Cancer 207


Preston DL, Ron E, Tokuoka S, et al. (2007). Solid cancer incidence in atomic bomb survivors:

1958–1998. Radiat Res 168(1):1–64.

Rahman N, Scott RH. (2007). Cancer genes associated with phenotypes in monoallelic

and biallelic mutation carriers: new lessons from old players. Hum Molec Genet 16:


Renwick A, Thompson D, Seal S, et al. (2006). ATM mutations that cause ataxia-telangiectasia

are breast cancer susceptibility genes. Nat Genet 38:873–875.

Ribeiro RC, Sandrini F, Figueiredo B, et al. (2001). An inherited p53 mutation contributes

in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci


Richards ML. (2009). Thyroid cancer genetics: multiple endocrine neoplasia type 2, nonmidullary familial thyroid cancer, and familial syndromes associated with thyroid cancer.

Surg Oncol Clin N Am 18(1): 39–52.

Ries LAG, Harkins D, Krapcho M, et al., eds. (2006). SEER cancer statistics review,

1975–2003, Bethesda, MD: National Cancer Institute. Available at http://seer.cancer.gov/

csr/1975 2003. Accessed September 6, 2007.

Risch HA, McLaughoin 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.

Rubenstein WS. (2004). Hereditary breast cancer in Jews. Familial Cancer 3:249–257.

Russell-Swetek A, West AN, Mintern JE, et al. (2008). Identification of a novel TP53 germline

mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroids plexus

carcinoma. J Med Genet 45(9):603–606.

Santiago J, Muszlak M, Samson C, et al. (2008). Malignancy risk and Wiedemann-Beckwith

syndrome: What follow-up to provide? [French]. Arch Pediatr 15(9):1498–1502.

Schindler RS, Hanenberg H, Barker K. (2007). Biallelic mutations in PALB2 cause Fanconi anemia subtype FA–N and predispose to childhood cancer. Nat Genet 39(2):


Schneider KA. (2002). Counseling about Cancer 2nd ed. New York: Wiley-Liss.

Schneider KA, DiGianni LM, Patenaude AF, et al. (2004). Accuracy of cancer family histories:

Comparison of two breast cancer syndromes. Genet Testing 8:222–228.



Seal S, Thompson D, Renwick A, et al. (2006). Truncating mutations in the Fanconi anemia J gene BRIP1 are low penetrance breast cancer susceptibility alleles. Nat Genet


Senter L, Clendenning M, Sotamaa K, et al. (2008). The clinical phenotype of Lynch syndrome

due to germ-line PMS2 mutations. Gastroenterology 135(2):419–428.

Shattuck TM, Văalimăaki S, Obara T, et al. (2003). Somatic and germ-line mutation of the

HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349(18):1722–1729.

Singh RS, Grayson W, Redston M, et al. (2008). Site and tumor type predicts DNA mismatch

repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol 32(6):936–942.

Stratakis CA, Kirschner LS, Carney JA. (2001). Clinical and molecular features of the Carney

complex: Diagnostic criteria and recommendations for patient evaluation. J Clin Endocr

Metabo 86:4041–4046.

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.

Sweet K, Willis J, Zhou XP, et al. (2005). Molecular classification of patients with unexplained

hamartomatous and hyperplastic polyposis. JAMA 294:2498–2500.

Swensen JJ, Keyser J, Coffin CM, et al. (2009). Familial occurrence of schwannomas and malignant rhabdoid tumor associated with a duplication in SMARCB1. J Med Genet 46:68–72.

Tan WH, Baris HN, Burrows PE, et al. (2007). The spectrum of vascular anomalies n patients with PTEN mutations: implications for diagnosis and management. J Med Genet


Theis B, Boyd N, Lockwood G, Tritchler D (1994). Accuracy of family cancer history in breast

cancer patients. Eur J Cancer Prev 3:321–327.

Thorlacius S, Sigurdsson S, Bjarnadottir H, et al. (1997). Study of a single BRCA2 mutation

with high carrier frequency in a small population. Am J Hum Genet 60:1079–1084.

Tomoda C, Miyauchi A, Uruno T, et al. (2004). Cribriform-morular variant of papillary

thyroid carcinoma: Clue to early detection of familial adenomatous polyposis-associated

colon cancer. World J Surg 28(9):886–889.

Trepanier A, Ahrens M, McKinnon W, et al. (2004). Genetic cancer risk assessment and

counseling: recommendations of the National Society of Genetic Counselors. J Genet Couns


Umar A, Boland CR, Terdiman J, et al., (2004). Revised Bethesda guidelines for HNPCC

(Lynch syndrome) and MSI. J Natl Cancer Inst 96:261–267.

van Hattem WA, Brosens LA, deLeng WW, et al. (2008). Large genomic deletions of SMAD4,

BMPR1A and PTEN in juvenile polyposis. Gut 57(5):623–627.

Varley JM. (2003). Germline p53 mutations and Li-Fraumeni syndrome. Hum Mut 21:313–320.

Walsh MD, Cummings MC, Buchanan DD, et al. (2008). Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive lynch syndrome

patients. Clini Cancer 14(6):1692–1700.

Wei M-H, Toure O, Glenn GM, et al. (2006). Novel mutations in FH and expression of the

spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal

cell cancer. J Med Genet 43:18–27.

Weitzel JN, Lagos VI, Cullinane CA, et al. (2007). Limited family structure and BRCA gene

mutation in single cases of breast cancer. JAMA 297(23):2587–2595.



Will O, Carvajal-Carmona LG, Gorman P et al. (2007). Homozygous PMS2 deletion causes

a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Gastroenterology 132:527–530.

Williams TT. (1991). Refuge, An Unnatural History of Family and Place. New York: Vintage


Wimmer K, Etzler J. (2008). Constitutional mismatch repair-deficiency syndrome: Have we

so far seen only the tip of an iceberg? Hum Genet 124(2):105–122.

Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. (2001). Hamartomatous polyposis syndromes: Molecular genetics neoplastic risk and surveillance recommendations. Ann Surg

Oncol 8:319–327.

Young RH. (2005). Sex cord-stromal tumors of the ovary and testis: Their similarities and

differences with consideration of selected problems. Mod Pathol Suppl 2:S81–S98

Young WF, Abooud AL. (2006). Editorial: Paraganglioma—All in the family. J Clin Endocrinol Metab 91:790–792.

Zhou X-P, Woodford-Richens K, Lehtonen R, et al. (2001). 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 69(4):704–711.

Ziogas A, Anton-Culver H. (2003). Validation of family history data in cancer family registries.

Am J Preven Med 24(2):190–198.

Tài liệu bạn tìm kiếm đã sẵn sàng tải về

11 Cancer Worry: The Pedigree as a Psychosocial Tool

Tải bản đầy đủ ngay(0 tr)