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11 Cancer Worry: The Pedigree as a Psychosocial Tool

11 Cancer Worry: The Pedigree as a Psychosocial Tool

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MODELS FOR PREDICTING THE RISK OF DEVELOPING CANCER OR THE PROBABILITY



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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

treatment.

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.



5.12 MODELS FOR PREDICTING THE RISK OF DEVELOPING

CANCER OR THE PROBABILITY OF TESTING MUTATION-POSITIVE

FOR AN INHERITED CANCER SYNDROME

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,



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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).



SUMMARY



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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.



5.13 SUMMARY

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).



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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.



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