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Title: Wide-Spread Genetic Testing For Breast Cancer Not Warranted, Say Researchers
URL: http://www.pslgroup.com/dg/6433E.htm
Doctor's Guide
March 24, 1998


CHICAGO, IL -- March 24, 1998 -- Wide-spread screening for a gene mutation associated with some breast cancer cases is not warranted, but might be considered for women with ovarian and breast cancer in their family history, according to an article in tomorrow's issue of The Journal of the American Medical Association.

Beth Newman, Ph.D., of the University of North Carolina in Chapel Hill, and colleagues, studied 211 women with breast cancer and 188 control women aged 20 to 74, who took part in the Carolina Breast Cancer Study (CBCS). The researchers also looked at a subset of African American women, with 99 breast cancer cases and 108 controls.

The study determined prevalence of the BRCA1 gene mutation among women who were not selected for family history of breast and ovarian cancer. Previous studies of BRCA1 mutation prevalence have involved high-risk families, such as those with multiple cases of breast cancer.

After adjustment for sampling probabilities, the researchers determined prevalence of inherited disease-related BRCA1 variants was 3.3 percent in white cases, zero percent in black cases and 2.6 percent for the population of breast cancer patients as a whole.

"Testing women from the general population for the entire BRCA1 and BRCA2 sequences is of questionable value, because a large number of women would be tested, expensively, to detect few mutations and the negative results cannot be definitive, except in the context of a family with a known disease-related mutation," the researchers write.

As expected, the study found that inherited mutations were more frequent in high-risk families.

"In white women, prevalence of inherited mutation was 23 percent for cases with family history of ovarian cancer, 13 percent for cases from families with at least four cases of breast cancer with or without ovarian cancer and 33 percent for cases from families with both breast and ovarian cancer and at least four affected relatives," they write.

The researchers also determined that young age at diagnosis does not, in itself, identify breast cancer patients likely to have inherited disease-related BRCA1 variants.

The authors suggest that the complex interaction of age, family history and genetic ancestry should all be taken into account when considering testing for BRCA1 mutation and interpreting results.

"These data suggest that in the general U.S. population, wide-spread screening of BRCA1 is not warranted," they write. "In contrast, BRCA1 mutations are sufficiently frequent in families with both breast and ovarian cancer, or at least four cases of breast cancer [at any age], that genotyping might be considered."Wide-Spread Genetic Testing For Breast Cancer Not Warranted, Say Researchers

CHICAGO, IL – March 24, 1998 -- Wide-spread screening for a gene mutation associated with some breast cancer cases is not warranted, but might be considered for women with ovarian and breast cancer in their family history, according to an article in tomorrow's issue of The Journal of the American Medical Association.

Beth Newman, Ph.D., of the University of North Carolina in Chapel Hill, and colleagues, studied 211 women with breast cancer and 188 control women aged 20 to 74, who took part in the Carolina Breast Cancer Study (CBCS). The researchers also looked at a subset of African American women, with 99 breast cancer cases and 108 controls.

The study determined prevalence of the BRCA1 gene mutation among women who were not selected for family history of breast and ovarian cancer. Previous studies of BRCA1 mutation prevalence have involved high-risk families, such as those with multiple cases of breast cancer.

After adjustment for sampling probabilities, the researchers determined prevalence of inherited disease-related BRCA1 variants was 3.3 percent in white cases, zero percent in black cases and 2.6 percent for the population of breast cancer patients as a whole.

"Testing women from the general population for the entire BRCA1 and BRCA2 sequences is of questionable value, because a large number of women would be tested, expensively, to detect few mutations and the negative results cannot be definitive, except in the context of a family with a known disease-related mutation," the researchers write.

As expected, the study found that inherited mutations were more frequent in high-risk families.

"In white women, prevalence of inherited mutation was 23 percent for cases with family history of ovarian cancer, 13 percent for cases from families with at least four cases of breast cancer with or without ovarian cancer and 33 percent for cases from families with both breast and ovarian cancer and at least four affected relatives," they write.

The researchers also determined that young age at diagnosis does not, in itself, identify breast cancer patients likely to have inherited disease-related BRCA1 variants.

The authors suggest that the complex interaction of age, family history and genetic ancestry should all be taken into account when considering testing for BRCA1 mutation and interpreting results.

"These data suggest that in the general U.S. population, wide-spread screening of BRCA1 is not warranted," they write. "In contrast, BRCA1 mutations are sufficiently frequent in families with both breast and ovarian cancer, or at least four cases of breast cancer [at any age], that genotyping might be considered."Wide-Spread Genetic Testing For Breast Cancer Not Warranted, Say Researchers

CHICAGO, IL – March 24, 1998 -- Wide-spread screening for a gene mutation associated with some breast cancer cases is not warranted, but might be considered for women with ovarian and breast cancer in their family history, according to an article in tomorrow's issue of The Journal of the American Medical Association.

Beth Newman, Ph.D., of the University of North Carolina in Chapel Hill, and colleagues, studied 211 women with breast cancer and 188 control women aged 20 to 74, who took part in the Carolina Breast Cancer Study (CBCS). The researchers also looked at a subset of African American women, with 99 breast cancer cases and 108 controls.

The study determined prevalence of the BRCA1 gene mutation among women who were not selected for family history of breast and ovarian cancer. Previous studies of BRCA1 mutation prevalence have involved high-risk families, such as those with multiple cases of breast cancer.

After adjustment for sampling probabilities, the researchers determined prevalence of inherited disease-related BRCA1 variants was 3.3 percent in white cases, zero percent in black cases and 2.6 percent for the population of breast cancer patients as a whole.

"Testing women from the general population for the entire BRCA1 and BRCA2 sequences is of questionable value, because a large number of women would be tested, expensively, to detect few mutations and the negative results cannot be definitive, except in the context of a family with a known disease-related mutation," the researchers write.

As expected, the study found that inherited mutations were more frequent in high-risk families.

"In white women, prevalence of inherited mutation was 23 percent for cases with family history of ovarian cancer, 13 percent for cases from families with at least four cases of breast cancer with or without ovarian cancer and 33 percent for cases from families with both breast and ovarian cancer and at least four affected relatives," they write.

The researchers also determined that young age at diagnosis does not, in itself, identify breast cancer patients likely to have inherited disease-related BRCA1 variants.

The authors suggest that the complex interaction of age, family history and genetic ancestry should all be taken into account when considering testing for BRCA1 mutation and interpreting results.

"These data suggest that in the general U.S. population, wide-spread screening of BRCA1 is not warranted," they write. "In contrast, BRCA1 mutations are sufficiently frequent in families with both breast and ovarian cancer, or at least four cases of breast cancer [at any age], that genotyping might be considered."

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