Page 2 - Breast Cancer
P. 2
MORNING CALL BREAST CANCER SUNDAY, OCTOBER 19, 2014 GO 9
Continued from GO 8 SURVIVORS DONNA FISHER/THE MORNING CALL tomy. She needed to go back into surgery
again.
“The only way you could see these is on Roni Fabian of Northampton, a breast cancer survivor, is thankful for mammograms:
a mammogram,” Fabian says. “There was ‘There was no lump to be felt. Had I not had the mammogram, I would not have known.’ In August 2013, she returned to work
no lump to be felt. Had I not had the mam- after being out 21 weeks with the surgeries.
mogram, I would not have known.” Fabian says. “It’s better than going through cedure that was complicated by scar tissue This year, she had two post-surgery cos-
this again.” from her hysterectomy. metic procedures.
Her first biopsy was inconclusive. But
after a second more advanced, biopsy, she She had a double mastectomy with And if that wasn’t enough, she later Finally, all is well.
learned she had ductal carcinoma in situ, reconstruction in a 13 1⁄2-hour-long pro- developed an infection from the hysterec- “Thank God,” Fabian says “It’s a major
the most common type of non-invasive relief. It means I’m finally getting back to
breast cancer. normal.”
She walked in the 2013 Women’s 5K
Around the same time, Fabian began to Classic and was happy with her time, 56
have abdominal pain. She learned she had minutes. This year she was shooting for a
a fibroid growing on her cervix that would time of 45 minutes.
require a hysterectomy. For Flynn, working with the 5K commit-
tee is a way to help spread the word about
She had that surgery, and within a early detection.
month also had a lumpectomy. “I’d rather put the [breast cancer] be-
hind me and not think about it,” Flynn says.
After having 33 radiation treatments, “But I think it’s helpful to others to know of
Fabian thought she was on the road to survivors, to give them hope and to know
recovery. of those who lost the battle so they stay
aware of prevention and detection and take
At the end of June 2013, she went for action when needed.”
another mammogram.
jsheehan@mcall.com
“I knew something was up,” Fabian says. twitter @jenwsheehan
Cancer had reared its ugly head again. 610-820-6628
She needed to have a mastectomy. And she
wondered if, with the cancer coming back,
it would be better to have both breasts
removed.
“My husband and I decided to do both,”
BREAST CANCER EVENTS AND RESOURCES
EVENTS breast cancer survivors. All are trained and Pike, Hanover Township, Northampton County Where: 1240 S. Cedar Crest Blvd., Salisbury
certified. Info: 610-861-7555, www.cancersupportglv.org Township
■ 100.7 WLEV’s Little Pink Dress Party When: Seven days a week, 24 hours a day. ■ Doylestown Hospital Info: 610-402-2273
What: 21-and-older event featuring music, What: “Road to Recovery” provides limited What: Breast Cancer Support Group Pocono Medical Center
games, food and more. Advanced tickets: $15 at financial assistance for transportation as well When: 7 p.m. the second Tuesday of every What: Breast Cancer Support Group
www.wlevradio.com. A $20 donation to the as transportation for cancer-related appoint- month When: 7-8:30 p.m. Nov. 6, the first Thursday of
Women’s 5K Classic is requested at the door. ments. Where: Doylestown Hospital, Conference every month
When: 7-10 p.m. Oct. 23 What: “Look Good, Feel Better” programs offer Room A Where: American Cancer Society, 2158 W. Main
Where: Melt Level 3 at the Promenade Shops, free, two-hour workshop that teaches women Info: 215-345-2022 St., Stroudsburg
Center Valley with cancer how to understand and care for the ■ Easton Hospital Info: Honi Gruenberg, 570-620-0336
Info: www.wlevradio.com changes in their skin that can occur during What: Breast Cancer Survivors Support Group
■ Making Strides Against Breast Cancer of treatment. Each participant receives a free When: 7-8:30 p.m. fourth Tuesday of every EARLY DETECTION
the Lehigh Valley 5K makeup kit. month
What: 3.1-mile family-friendly walk in down- Where: At various locations, including Lehigh Where: Rehabilitation conference room, sec- ■ Allentown Health Bureau
town Bethlehem Valley Health Network-Muhlenberg, Easton ond floor, Easton Hospital What: Offers free mammograms for uninsured
When: 10 a.m. Oct. 25 Hospital, St. Luke’s Allentown Hospital, Lehigh Info: 610-250-4027 women 40 and older. Services offered at Breast
Where: Main and Lehigh streets, Bethlehem Valley Health Network-Cedar Crest, St. Luke’s- ■ Encore Breast Cancer Support Group Health Services of Lehigh Valley Hospital, Sa-
Info: 717-909-9747, makingstrideswalk.org. Anderson Campus and Cancer Support Com- What: Free support group that incorporates cred Heart Hospital’s Lanshe Women’s Center
■ Pink Tea & Fashion Show munity of the Greater Lehigh Valley. exercise in its meetings. and St. Luke’s Women Imaging Center.
What: Pa. Breast Cancer Coalition and Head to Info: 800-227-2345 When: Meets weekly; 6:30-8 p.m. Tuesdays and Health Bureau hours: 8 a.m.-4:30 p.m. Mon-
Toe Boutique offer luncheon and fashion show. What: “Breast Friends of Pennsylvania” offers 9:15-10:45 a.m. Fridays days through Fridays
When: 11 a.m. Oct. 25 support through one-on-one contact in phone Where: Allentown YMCA and YWCA, 425 S. Where: 245 N. Sixth St., Allentown
Where: All Saints Episcopal Church, 310 Elm conversations as well as in person. 15th St. Info: 610-437-7513, www.allentownpa.gov/
Ave., Hershey Info: 321-236-3721, pennsylvania@breast- Info: Dona Obal, 610-434-9333, ext. 313 health
Info: Alisha Kase, 717-802-2397 friends.org ■ Grand View Hospital ■ Sacred Heart Hospital Parish Nursing
■ Blue Mountain Health System What: Breast Cancer Support Group Department
RESOURCES What: Breast Cancer Support Group When: 10-11:30 a.m. first Wednesday of every What: Education, screening, mammograms
When: 3:30 p.m. third Tuesday of every month month and follow-up free of charge for uninsured
■ Susan G. Komen Breast Cancer Where: Ground floor community room, Gnaden Where: First floor Grand View Hospital Radia- women at Sacred Heart Hospital.
Foundation, ww5.komen.org Huetten campus, Blue Mountain Health System tion Oncology waiting room, 700 Lawn Ave., Info: Deb Gilbert, 610-871-5888
■ American Cancer Society Info: Liz, 610-377-7029 Sellersville ■ YWCA of Bethlehem
www.cancer.org ■ Cancer Support Community–Greater Info: 215-453-3223 What: “Neighbor to Neighbor” provides info
■ National Breast Cancer Foundation Lehigh Valley ■ Lehigh Valley Health Network–Cedar about mammograms and discusses fears and
www.nationalbreastcancer.org What: Breast Cancer Support Group Crest concerns about breast cancer and tests. Wom-
When: 11 a.m.-12:30 p.m. first Monday of every What: “Support of Survivors,” a 24-hour tele- en can schedule a free mammogram.
SUPPORT SERVICES month phone answering machine. Calls returned by Where: 3893 Adler Place, Building B, Suite 180,
Where: Anneliese B. Vollrath House, 3400 Bath breast cancer survivors. Bethlehem
■ American Cancer Society Info: 610-867-4669, www.ywcabethlehem.org
What: “Reach to Recovery” provides free
one-on-one support and information from
Gene tests promising, but ...
New technologies STEPHANIE DOWELL/FOR TRIBUNE NEWSPAPERS “It’s going to take a national, or
international, effort to learn how
don’t always Twins Kristen Maurer, left, and Kelly McCarthy of Crown Point, Ind., were diagnosed with breast cancer. to interpret variants that are rare,
Though genetic testing showed no BRCA mutation, both women opted for double mastectomies. or found only in individual fami-
clarify risk of lies,” said Peshkin.
study showing that certain muta- herself had up to an 87 percent healthy women say only those
breast cancer tions in a gene called PALB2 chance of getting the disease. with a family history should be Such efforts are already under-
were associated with a lifetime referred for genetic counseling way. A number of labs and medi-
By Judy Peres risk of between 33 percent (for Some breast cancer experts and testing.) cal centers, including George-
carriers with no family history of noted that the “Angelina Jolie town, the University of Chicago
Special to Tribune Newspapers breast cancer) and 58 percent effect” — the dramatic upsurge in But King added that women and Memorial Sloan Kettering in
(for those with a strong family testing for breast cancer genes should be told only about muta- New York, recently launched a
New technologies, and a little history). That’s similar to the risk that followed her story — was a tions that are associated with registry to collect genetic in-
help from the U.S. Supreme associated with a BRCA2 muta- good thing. It raised awareness of known cancer risk. formation and outcomes data on
Court, have made it possible for tion, but lower than that for a problem about which some- patients who undergo multigene-
large numbers of women to find BRCA1. thing could be done. A study Many of the newer gene muta- panel testing and consent to be
out whether they carry genetic presented in early September at a tions have not been studied in followed.
mutations that increase their risk The average lifetime risk for meeting of the American Society enough carriers for scientists to
of breast cancer — a development an American woman is about 12 of Clinical Oncology found that be able to quantify the risk associ- The registry will focus on the
warmly welcomed by experts in percent. The vast majority of referrals for genetic testing at one ated with them. So learning she kind of genes for which cancer
the field. breast cancer cases are not linked large medical center doubled in has one of those mutations would risk is uncertain and no clinical
to any known hereditary factor. the six months following Jolie’s almost certainly cause a woman management guidelines are cur-
But the availability and rela- announcement. concern and anxiety, but it rently available.
tive affordability of multigene- “Investigators from 14 centers wouldn’t provide enough in-
panel tests can also lead to anxi- around the world pooled data But BRCA1 is a well-studied formation for her to make an Even after the level of risk is
ety and confusion about what from all of their families with gene for which there is good informed decision about how to known, however, good genetic
course of action to choose, be- PALB2 mutations,” said Dr. Jane evidence of the associated risk. proceed. counseling is needed, Churpek
cause the risk associated with Churpek, co-director of the Although there can be many explained, because that estimate
many of those genes remains Comprehensive Cancer Risk and different mutations in that gene, Only by knowing the likelihood may be affected by other things,
unknown. Prevention Program at Univer- and they don’t all confer the same that someone who carries a given including lifestyle factors, other
sity of Chicago Medicine. “So, for risk, researchers have investigat- mutation will actually develop genetic factors, family cancer
“Genetic testing holds a lot of the first time, we had a large ed most of them and have a pretty breast cancer can a doctor help a history and country of residence.
potential and a whole lot of un- enough series to get an estimate good idea how they affect a per- patient decide if it’s appropriate “It’s why those of us who practice
certainty,” said Beth Peshkin, a (of risk) for carriers of mutations son’s chances of getting breast to take certain risk-reduction cancer risk make sure testing is
professor of oncology and senior in this gene. The hope is we’ll see cancer. steps. Those may include: done by someone who knows
genetic counselor at Georgetown similar efforts for each gene on ■ more intensive screening (typi- how to interpret the results,” she
University’s Lombardi Compre- these panels.” “Over a million women have cally, an annual MRI in addition said.
hensive Cancer Center in Wash- been tested for BRCA,” said Pesh- to mammography)
ington. When actress Angelina Jolie kin. “Very few variants (of un- ■ chemoprevention (taking a Churpek stressed that genetic
announced last year that she known significance) remain.” drug that blocks the effect of testing is only one component of
“The more genes we test, the carried a BRCA1 mutation, her estrogen on the breasts) estimating someone’s cancer risk.
more variants we’re likely to choice was relatively straight- Geneticist Mary-Claire King, ■ prophylactic salpingo-oopho- “We take into account personal
find,” explained Peshkin. “A forward. She decided to have a who discovered BRCA1, stirred rectomy (surgical removal of the factors — such as age at first pe-
recent study found that about 40 preventive double mastectomy controversy recently by calling fallopian tubes and ovaries) and riod and first childbirth — as well
percent of people who under- after her mother died of ovarian for all American woman over 30 ■ mastectomy (surgical removal as the family history,” she said. “If
went panel testing had variants, cancer and Jolie learned she to be tested for BRCA1 and of the breasts). genetic testing does not identify a
or genetic changes, that we don’t BRCA2. (Current guidelines for mutation, but there is a strong
know how to interpret.” family history of breast cancer, we
take care of that woman differ-
In 2013 the Supreme Court ently.”
invalidated Myriad Genetics’
patents on the two major genes That was the case for Kelly
that predispose women to breast McCarthy and Kristen Maurer of
and ovarian cancer, ruling that Crown Point, Ind., twin sisters
human genes cannot be pat- who were both diagnosed with
ented. breast cancer at age 32, shortly
before their mother died of colon
Since then, several companies cancer. McCarthy, a nurse, had a
have begun testing for mutations very aggressive tumor; Maurer’s
in those genes, BRCA1 and was less aggressive and less ad-
BRCA2, which are responsible vanced.
for about 80 percent of heredi-
tary breast cancer cases; and the Genetic testing showed no
genes have been incorporated BRCA mutation and no conclu-
into panels that use so-called sive breast cancer risk in any
next-generation sequencing to other gene on the panel. Never-
test for multiple genes simulta- theless, both women opted for
neously. double mastectomies.
The problem arises because “It was a peace-of-mind situa-
some of the mutations detected tion,” said Maurer, now 35, who
in those panels are relatively rare works in enrollment services at
and scientists do not yet know Indiana Wesleyan University and
how much additional risk they has two young daughters. “I
confer, if any. didn’t want it to ever come back.”
In August, the New England
Journal of Medicine published a
Continued from GO 8 SURVIVORS DONNA FISHER/THE MORNING CALL tomy. She needed to go back into surgery
again.
“The only way you could see these is on Roni Fabian of Northampton, a breast cancer survivor, is thankful for mammograms:
a mammogram,” Fabian says. “There was ‘There was no lump to be felt. Had I not had the mammogram, I would not have known.’ In August 2013, she returned to work
no lump to be felt. Had I not had the mam- after being out 21 weeks with the surgeries.
mogram, I would not have known.” Fabian says. “It’s better than going through cedure that was complicated by scar tissue This year, she had two post-surgery cos-
this again.” from her hysterectomy. metic procedures.
Her first biopsy was inconclusive. But
after a second more advanced, biopsy, she She had a double mastectomy with And if that wasn’t enough, she later Finally, all is well.
learned she had ductal carcinoma in situ, reconstruction in a 13 1⁄2-hour-long pro- developed an infection from the hysterec- “Thank God,” Fabian says “It’s a major
the most common type of non-invasive relief. It means I’m finally getting back to
breast cancer. normal.”
She walked in the 2013 Women’s 5K
Around the same time, Fabian began to Classic and was happy with her time, 56
have abdominal pain. She learned she had minutes. This year she was shooting for a
a fibroid growing on her cervix that would time of 45 minutes.
require a hysterectomy. For Flynn, working with the 5K commit-
tee is a way to help spread the word about
She had that surgery, and within a early detection.
month also had a lumpectomy. “I’d rather put the [breast cancer] be-
hind me and not think about it,” Flynn says.
After having 33 radiation treatments, “But I think it’s helpful to others to know of
Fabian thought she was on the road to survivors, to give them hope and to know
recovery. of those who lost the battle so they stay
aware of prevention and detection and take
At the end of June 2013, she went for action when needed.”
another mammogram.
jsheehan@mcall.com
“I knew something was up,” Fabian says. twitter @jenwsheehan
Cancer had reared its ugly head again. 610-820-6628
She needed to have a mastectomy. And she
wondered if, with the cancer coming back,
it would be better to have both breasts
removed.
“My husband and I decided to do both,”
BREAST CANCER EVENTS AND RESOURCES
EVENTS breast cancer survivors. All are trained and Pike, Hanover Township, Northampton County Where: 1240 S. Cedar Crest Blvd., Salisbury
certified. Info: 610-861-7555, www.cancersupportglv.org Township
■ 100.7 WLEV’s Little Pink Dress Party When: Seven days a week, 24 hours a day. ■ Doylestown Hospital Info: 610-402-2273
What: 21-and-older event featuring music, What: “Road to Recovery” provides limited What: Breast Cancer Support Group Pocono Medical Center
games, food and more. Advanced tickets: $15 at financial assistance for transportation as well When: 7 p.m. the second Tuesday of every What: Breast Cancer Support Group
www.wlevradio.com. A $20 donation to the as transportation for cancer-related appoint- month When: 7-8:30 p.m. Nov. 6, the first Thursday of
Women’s 5K Classic is requested at the door. ments. Where: Doylestown Hospital, Conference every month
When: 7-10 p.m. Oct. 23 What: “Look Good, Feel Better” programs offer Room A Where: American Cancer Society, 2158 W. Main
Where: Melt Level 3 at the Promenade Shops, free, two-hour workshop that teaches women Info: 215-345-2022 St., Stroudsburg
Center Valley with cancer how to understand and care for the ■ Easton Hospital Info: Honi Gruenberg, 570-620-0336
Info: www.wlevradio.com changes in their skin that can occur during What: Breast Cancer Survivors Support Group
■ Making Strides Against Breast Cancer of treatment. Each participant receives a free When: 7-8:30 p.m. fourth Tuesday of every EARLY DETECTION
the Lehigh Valley 5K makeup kit. month
What: 3.1-mile family-friendly walk in down- Where: At various locations, including Lehigh Where: Rehabilitation conference room, sec- ■ Allentown Health Bureau
town Bethlehem Valley Health Network-Muhlenberg, Easton ond floor, Easton Hospital What: Offers free mammograms for uninsured
When: 10 a.m. Oct. 25 Hospital, St. Luke’s Allentown Hospital, Lehigh Info: 610-250-4027 women 40 and older. Services offered at Breast
Where: Main and Lehigh streets, Bethlehem Valley Health Network-Cedar Crest, St. Luke’s- ■ Encore Breast Cancer Support Group Health Services of Lehigh Valley Hospital, Sa-
Info: 717-909-9747, makingstrideswalk.org. Anderson Campus and Cancer Support Com- What: Free support group that incorporates cred Heart Hospital’s Lanshe Women’s Center
■ Pink Tea & Fashion Show munity of the Greater Lehigh Valley. exercise in its meetings. and St. Luke’s Women Imaging Center.
What: Pa. Breast Cancer Coalition and Head to Info: 800-227-2345 When: Meets weekly; 6:30-8 p.m. Tuesdays and Health Bureau hours: 8 a.m.-4:30 p.m. Mon-
Toe Boutique offer luncheon and fashion show. What: “Breast Friends of Pennsylvania” offers 9:15-10:45 a.m. Fridays days through Fridays
When: 11 a.m. Oct. 25 support through one-on-one contact in phone Where: Allentown YMCA and YWCA, 425 S. Where: 245 N. Sixth St., Allentown
Where: All Saints Episcopal Church, 310 Elm conversations as well as in person. 15th St. Info: 610-437-7513, www.allentownpa.gov/
Ave., Hershey Info: 321-236-3721, pennsylvania@breast- Info: Dona Obal, 610-434-9333, ext. 313 health
Info: Alisha Kase, 717-802-2397 friends.org ■ Grand View Hospital ■ Sacred Heart Hospital Parish Nursing
■ Blue Mountain Health System What: Breast Cancer Support Group Department
RESOURCES What: Breast Cancer Support Group When: 10-11:30 a.m. first Wednesday of every What: Education, screening, mammograms
When: 3:30 p.m. third Tuesday of every month month and follow-up free of charge for uninsured
■ Susan G. Komen Breast Cancer Where: Ground floor community room, Gnaden Where: First floor Grand View Hospital Radia- women at Sacred Heart Hospital.
Foundation, ww5.komen.org Huetten campus, Blue Mountain Health System tion Oncology waiting room, 700 Lawn Ave., Info: Deb Gilbert, 610-871-5888
■ American Cancer Society Info: Liz, 610-377-7029 Sellersville ■ YWCA of Bethlehem
www.cancer.org ■ Cancer Support Community–Greater Info: 215-453-3223 What: “Neighbor to Neighbor” provides info
■ National Breast Cancer Foundation Lehigh Valley ■ Lehigh Valley Health Network–Cedar about mammograms and discusses fears and
www.nationalbreastcancer.org What: Breast Cancer Support Group Crest concerns about breast cancer and tests. Wom-
When: 11 a.m.-12:30 p.m. first Monday of every What: “Support of Survivors,” a 24-hour tele- en can schedule a free mammogram.
SUPPORT SERVICES month phone answering machine. Calls returned by Where: 3893 Adler Place, Building B, Suite 180,
Where: Anneliese B. Vollrath House, 3400 Bath breast cancer survivors. Bethlehem
■ American Cancer Society Info: 610-867-4669, www.ywcabethlehem.org
What: “Reach to Recovery” provides free
one-on-one support and information from
Gene tests promising, but ...
New technologies STEPHANIE DOWELL/FOR TRIBUNE NEWSPAPERS “It’s going to take a national, or
international, effort to learn how
don’t always Twins Kristen Maurer, left, and Kelly McCarthy of Crown Point, Ind., were diagnosed with breast cancer. to interpret variants that are rare,
Though genetic testing showed no BRCA mutation, both women opted for double mastectomies. or found only in individual fami-
clarify risk of lies,” said Peshkin.
study showing that certain muta- herself had up to an 87 percent healthy women say only those
breast cancer tions in a gene called PALB2 chance of getting the disease. with a family history should be Such efforts are already under-
were associated with a lifetime referred for genetic counseling way. A number of labs and medi-
By Judy Peres risk of between 33 percent (for Some breast cancer experts and testing.) cal centers, including George-
carriers with no family history of noted that the “Angelina Jolie town, the University of Chicago
Special to Tribune Newspapers breast cancer) and 58 percent effect” — the dramatic upsurge in But King added that women and Memorial Sloan Kettering in
(for those with a strong family testing for breast cancer genes should be told only about muta- New York, recently launched a
New technologies, and a little history). That’s similar to the risk that followed her story — was a tions that are associated with registry to collect genetic in-
help from the U.S. Supreme associated with a BRCA2 muta- good thing. It raised awareness of known cancer risk. formation and outcomes data on
Court, have made it possible for tion, but lower than that for a problem about which some- patients who undergo multigene-
large numbers of women to find BRCA1. thing could be done. A study Many of the newer gene muta- panel testing and consent to be
out whether they carry genetic presented in early September at a tions have not been studied in followed.
mutations that increase their risk The average lifetime risk for meeting of the American Society enough carriers for scientists to
of breast cancer — a development an American woman is about 12 of Clinical Oncology found that be able to quantify the risk associ- The registry will focus on the
warmly welcomed by experts in percent. The vast majority of referrals for genetic testing at one ated with them. So learning she kind of genes for which cancer
the field. breast cancer cases are not linked large medical center doubled in has one of those mutations would risk is uncertain and no clinical
to any known hereditary factor. the six months following Jolie’s almost certainly cause a woman management guidelines are cur-
But the availability and rela- announcement. concern and anxiety, but it rently available.
tive affordability of multigene- “Investigators from 14 centers wouldn’t provide enough in-
panel tests can also lead to anxi- around the world pooled data But BRCA1 is a well-studied formation for her to make an Even after the level of risk is
ety and confusion about what from all of their families with gene for which there is good informed decision about how to known, however, good genetic
course of action to choose, be- PALB2 mutations,” said Dr. Jane evidence of the associated risk. proceed. counseling is needed, Churpek
cause the risk associated with Churpek, co-director of the Although there can be many explained, because that estimate
many of those genes remains Comprehensive Cancer Risk and different mutations in that gene, Only by knowing the likelihood may be affected by other things,
unknown. Prevention Program at Univer- and they don’t all confer the same that someone who carries a given including lifestyle factors, other
sity of Chicago Medicine. “So, for risk, researchers have investigat- mutation will actually develop genetic factors, family cancer
“Genetic testing holds a lot of the first time, we had a large ed most of them and have a pretty breast cancer can a doctor help a history and country of residence.
potential and a whole lot of un- enough series to get an estimate good idea how they affect a per- patient decide if it’s appropriate “It’s why those of us who practice
certainty,” said Beth Peshkin, a (of risk) for carriers of mutations son’s chances of getting breast to take certain risk-reduction cancer risk make sure testing is
professor of oncology and senior in this gene. The hope is we’ll see cancer. steps. Those may include: done by someone who knows
genetic counselor at Georgetown similar efforts for each gene on ■ more intensive screening (typi- how to interpret the results,” she
University’s Lombardi Compre- these panels.” “Over a million women have cally, an annual MRI in addition said.
hensive Cancer Center in Wash- been tested for BRCA,” said Pesh- to mammography)
ington. When actress Angelina Jolie kin. “Very few variants (of un- ■ chemoprevention (taking a Churpek stressed that genetic
announced last year that she known significance) remain.” drug that blocks the effect of testing is only one component of
“The more genes we test, the carried a BRCA1 mutation, her estrogen on the breasts) estimating someone’s cancer risk.
more variants we’re likely to choice was relatively straight- Geneticist Mary-Claire King, ■ prophylactic salpingo-oopho- “We take into account personal
find,” explained Peshkin. “A forward. She decided to have a who discovered BRCA1, stirred rectomy (surgical removal of the factors — such as age at first pe-
recent study found that about 40 preventive double mastectomy controversy recently by calling fallopian tubes and ovaries) and riod and first childbirth — as well
percent of people who under- after her mother died of ovarian for all American woman over 30 ■ mastectomy (surgical removal as the family history,” she said. “If
went panel testing had variants, cancer and Jolie learned she to be tested for BRCA1 and of the breasts). genetic testing does not identify a
or genetic changes, that we don’t BRCA2. (Current guidelines for mutation, but there is a strong
know how to interpret.” family history of breast cancer, we
take care of that woman differ-
In 2013 the Supreme Court ently.”
invalidated Myriad Genetics’
patents on the two major genes That was the case for Kelly
that predispose women to breast McCarthy and Kristen Maurer of
and ovarian cancer, ruling that Crown Point, Ind., twin sisters
human genes cannot be pat- who were both diagnosed with
ented. breast cancer at age 32, shortly
before their mother died of colon
Since then, several companies cancer. McCarthy, a nurse, had a
have begun testing for mutations very aggressive tumor; Maurer’s
in those genes, BRCA1 and was less aggressive and less ad-
BRCA2, which are responsible vanced.
for about 80 percent of heredi-
tary breast cancer cases; and the Genetic testing showed no
genes have been incorporated BRCA mutation and no conclu-
into panels that use so-called sive breast cancer risk in any
next-generation sequencing to other gene on the panel. Never-
test for multiple genes simulta- theless, both women opted for
neously. double mastectomies.
The problem arises because “It was a peace-of-mind situa-
some of the mutations detected tion,” said Maurer, now 35, who
in those panels are relatively rare works in enrollment services at
and scientists do not yet know Indiana Wesleyan University and
how much additional risk they has two young daughters. “I
confer, if any. didn’t want it to ever come back.”
In August, the New England
Journal of Medicine published a
