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Breast cancer survivor was the tenth member of her family to test positive for the BRCA2 gene mutation

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Breast cancer survivor was the tenth member of her family to test positive for the BRCA2 gene mutation
News

News

Breast cancer survivor was the tenth member of her family to test positive for the BRCA2 gene mutation

2019-08-21 17:27 Last Updated At:17:27

When Sam went for a family history check after testing positive for BRCA 2 she couldn’t believe what happened next.

A businesswoman given the bombshell news that she was the 10th woman in her family with the BRCA 2 gene mutation – increasing the risk of developing breast or ovarian cancer by 85 per cent – has told how doctors then  revealed that, like six female relatives before her, she also had breast cancer.

When Sam Marsden, 46, went for a family history check soon after testing positive for BRCA 2, she was so sure it would just be a routine appointment that she took her partner’s sister along – planning to enjoy a girly lunch together afterwards.

Instead a nurse was concerned about puckered skin on her left breast –  which turned out to be cancer –  and while Sam, of Sheffield, South Yorkshire, had an initial meltdown, she soon became determined to live life to the full, and now tells other women: “Get up, put your lipstick and eyes on and thank God you have another day to live.’”

After several relatives on her maternal side had tested positive for BRCA 2 and gone on to develop breast cancer, Sam admits she put off having the test until her mum, Jackie Callaghan, 65, was found to have the gene mutation in April last year.

“I knew I’d got the gene,” said Sam, who found out she had stage two breast cancer a few months after her BRCA 2 results.

“Everyone else in my family seemed to have it, so it would have been some kind of miracle if I didn’t have it, but you still hope you don’t.”

Booking in for the genetic test in May 2018, she broke down in tears when she was told she had the mutation.

But it was after a family history check a few months later that Sam, whose partner, Mario Rivas-Aguilar, 49, is an IT technician, was first alerted to the fact she probably had breast cancer.

“I had gone to the family history appointment with Mario’s sister, Maria Vasquez, 43, and we’d been planning on going out for lunch afterwards,” she recalled.

“Instead, I saw the nurse’s face fall when she examined my breasts and said, ‘I’m not happy with that left side,’ where she could see the breast tissue was puckered.”

Sam had noticed the puckering herself six months earlier, but had assumed it was simply excess skin caused by dieting, as she had dropped from 14st to 12st in just two months.

She was particularly shocked as a mammogram she had at a private Wellwoman check-up the year before had not revealed anything and a subsequent trip to the GP, when she showed the doctor her puckered skin, had not raised any concerns.

“When I was told I did have breast cancer on September 5 last year at Sheffield’s Royal Hallamshire Hospital, I started to cry and was shaking badly,” said Sam.

“The doctor said, ‘Let’s not get ahead of ourselves,’ but all I could see was my Aunty Fay, my mum’s younger sister, who had tested positively three years earlier, had developed cancer and lost all her hair through chemotherapy.

“When you first hear those words, you think cancer is a death sentence and I was wondering if I’d ever see my daughter, Isabella, who’s 11 now, start secondary school, or whether I’d even live long enough to put a Christmas tree up.

“I asked the doctor outright, ‘Am I going to die?’ and he said ‘No, it’s operable.’

“I told him I wanted both breasts off and both ovaries out there and then, but he said,  ‘That’s a massive operation, let’s start with the biggest threat to you,’ by which he meant the cancer in my left breast.”

Sam, who runs an educational teaching supply agency, took the doctor’s advice and had most of her left breast and a 4cm mildly aggressive cancer tumour surgically removed on October 19, 2018 at the same hospital.

She then had six rounds of punishing chemotherapy, because the surgeon had detected a minuscule amount of cancer in the lymph tissue under her arm.

Sam, who said she and Mario had already told their daughter Isabella about her diagnosis, continued: “She’s a very bright girl and we didn’t want to lie to her, as that’s no basis for a good parent and child relationship.

“I said, ‘Look, we’ve got this gene roaming around the family and although not everyone who has it will get breast cancer, you will need to be tested when you’re 18.'”

And, when Sam went on to be diagnosed with cancer, as well as BRCA2, rather than asking if her mummy would die, Isabella just wanted to know if her hair would fall out, which it did.

“I have always had the longest and thickest red hair,” she said. “It was as thick as a rope, but I lost it thanks to the chemotherapy.

“I was so sick I was hospitalised with sepsis at one point. I felt sick all the time and remember Mario looking at me at the start of this year when, physically, I was just a shell of myself and saying, ‘You’re not the same Sam we all know and love.'”

But, determined to give herself something to aim for, even before her chemotherapy treatment started, Sam booked a family holiday to a posh Greek resort to mark the end of her treatment.

And when they finally jetted back from their sunshine break earlier this month, she felt proud of how she had coped and recovered – having also had her ovaries removed in May this year as a precaution – and decided to buy place in the sun of her own, in Mojácar on Spain’s Costa de Almeria.

“We’ve always spoken about buying a holiday home abroad and I got a decent pay out from my critical illness policy through work and decided to put it towards that,” she said.

She continued: “Now we have somewhere to dip our toes into once a year or so – the dreams become a reality.

“If it wasn’t for the cancer we never would have been able to do it. It’s a reminder that good things can come for bad, it’s very bitter sweet.”

Now in October, Sam has further surgery booked to have her right breast removed, too, at Royal Hallamshire Hospital – again to help prevent the cancer from returning.

Like many women diagnosed with the BRCA2 gene mutation – including her mum who had a double mastectomy despite not having cancer – she has had additional surgery, hoping to reduce the risk of the disease developing.

And while she hopes Isabella will be tested sooner rather than later for BRCA2 and will opt for a preventative mastectomy if she has it, she will respect her right to choose.

She said: “It’s her body and she has a right to decide for herself.”

She continued: “If she asks for my advice, though, I will recommend that she has the operation.

“Having cancer has made me realise how individual we are. Even if you get the same cancer as someone else, the treatment is tailored for you, personally, and may be very different to another woman’s.”

Refusing ever to let cancer rob her of her zest for life, Sam said she now wakes up every morning feeling grateful to see the sky through her bedroom window, knowing she is still alive.

“Life is for living,” she said. “I’ve always been confident and ambitious, but now I understand how much I have to look forward to.

“When something like this happens, you have to get up, put your lipstick and eyes on and thank God you have another day to live.

“You need to get out there and live your life – have that piece of cake, buy that handbag. You can’t take any of it with you – there are no pockets in a shroud, as the old saying goes.”

Sam Marsden is supporting Cancer Research UK’s work to beat cancer right now. To find out more visit cruk.org

BARCELONA, Spain (AP) — Playing with an extra man for more than an hour, Paris Saint-Germain rallied against Barcelona to reach the Champions League semifinals.

Kylian Mbappé scored twice as PSG reversed its first-leg loss at home with a 4-1 win at Barcelona on Tuesday to advance 6-4 on aggregate and keep alive its hopes of a first European title in what is the France star's final season with the club.

Former Barcelona forward Ousmane Dembélé and Vitinha also scored for PSG, which took advantage of a 29th-minute red card to Barcelona defender Ronald Araujo after he fouled Bradley Barcola while trying to stop a breakaway.

“When it was 11 against 11 we were well organized. The sending off changes everything. The match changed completely,” said Barcelona coach Xavi Hernández, who was later sent off himself for complaining. “We would have liked to play PSG 11 against 11. That should not have been a red card.”

Barcelona had gotten off to a good start and opened the scoring with a goal by Raphinha in the 12th, but the visitors took control with the man advantage and didn't let Barcelona get back into the game. Xavi had to replace young forward Lamine Yamal with defender Iñigo Martínez after the red card to Araujo, who was deemed by the referee to be the last defender when he fouled Barcola.

PSG is back in the semifinals after two consecutive eliminations in the round of 16.

“I feel very proud," said PSG coach Luis Enrique, a former Barcelona player and coach. “We showed what we wanted to do here today. We conceded a goal, but we stayed intact mentally. We continued to play, to attack. We did everything we could to be better than Barcelona. My players showed a lot of character, a lot of enthusiasm, a lot of desire.”

The Catalan side, which won the first leg 3-2 in Paris last week, made it to the knockout stage of Europe's top club competition after back-to-back eliminations in the group stage.

In the other quarterfinal on Tuesday, Borussia Dortmund defeated Atletico Madrid 4-2 at home to advance 5-4 on aggregate. PSG and Dortmund will meet in one of the semifinals.

Mbappé scored his goals in the 61st and 89th minutes. The France star is hoping to win what would be a first Champions League title for himself and for PSG before he leaves the club.

Barcelona opened the scoring in its first attack with a fortuitous goal by Raphinha after Lamine Yamal’s low cross from the right side bounced off the shin of the Brazil forward and went into the net.

PSG equalized about 10 minutes after Araujo was sent off, with Dembélé finding the net by the far post after a cross by Barcola. Dembélé, named the man of the match, was loudly jeered by the Barcelona crowd when he was substituted in the final minutes. He had also scored in the first leg in Paris.

“We didn’t give up, we knew we were going to score goals here,” Dembélé said. “A big shift from the whole team. We worked the entire week, tactically, with the coach. His tactics were perfect. Even though we conceded the first goal, we didn’t let our heads drop. We continued to believe.”

PSG took the lead when Vitinha fired a low shot from outside the area in the 54th. The visitors increased their lead when Mbappé converted a penalty kick after Dembélé was brought down by João Cancelo inside the area.

Barcelona had chances to get back into the game, with Ilkay Gündogan hitting the post in the 56th and both Robert Lewandowski and Raphinha squandering chances toward the end of the match.

Mbappé's second goal came from close range in a breakaway in the final minutes. He has now scored at least 40 club goals in all competitions for the third time in four seasons with PSG. He has scored 13 goals in his last 13 Champions League matches.

Xavi was sent off after kicking a cushion protecting a sideline camera in the 56th.

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates at the end of the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates at the end of the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe scores his side's 3rd goal on a penalty kick during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

PSG's Kylian Mbappe scores his side's 3rd goal on a penalty kick during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha, left, celebrates with Barcelona's Lamine Yamal after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha, left, celebrates with Barcelona's Lamine Yamal after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha, left, celebrates with teammates after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha, left, celebrates with teammates after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha celebrates with teammates after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha celebrates with teammates after scoring the opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Raphinha celebrates after scoring his side's opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

Barcelona's Raphinha celebrates after scoring his side's opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe, top, is challenged by Barcelona's Ronald Araujo during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe, top, is challenged by Barcelona's Ronald Araujo during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Ousmane Dembele, right, celebrates after scoring his side's opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Ousmane Dembele, right, celebrates after scoring his side's opening goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

Barcelona's Ronald Araujo, center left, and PSG's Kylian Mbappe go for a header during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Ronald Araujo, center left, and PSG's Kylian Mbappe go for a header during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Ronald Araujo, left, gets a red card by referee Istvan Kovacs during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

Barcelona's Ronald Araujo, left, gets a red card by referee Istvan Kovacs during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

PSG's Kylian Mbappe scores his side's 3rd goal on a penalty kick during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

PSG's Kylian Mbappe scores his side's 3rd goal on a penalty kick during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Joan Monfort)

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe scores his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe scores his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

PSG's Kylian Mbappe celebrates after scoring his side's third goal during the Champions League quarterfinal second leg soccer match between Barcelona and Paris Saint-Germain at the Olimpic Lluis Companys stadium in Barcelona, Spain, Tuesday, April 16, 2024. (AP Photo/Emilio Morenatti)

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